Chromosome 17 (human): Difference between revisions

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__NOTOC__
{{Infobox chromosome
{{CMG}} {{AE}}{{JC}}
| image = Human male karyotpe high resolution - Chromosome 17 cropped.png
{{SI}}
| caption = Human chromosome 17 pair after [[G banding|G-banding]].<br/>One is from mother, one is from father.
| image2 = Human male karyotpe high resolution - Chromosome 17.png
| caption2 = Chromosome 17 pair<br/> in human male [[karyogram]].
| length_bp = 83,257,441 bp<br/>([[GRCh38]])<ref name="National Center for Biotechnology Information 2017">{{cite web | title=Human Genome Assembly GRCh38 - Genome Reference Consortium | website=National Center for Biotechnology Information | date=2013-12-24 | url=https://www.ncbi.nlm.nih.gov/grc/human/data?asm=GRCh38 | language=en | accessdate=2017-03-04}}</ref>
| genes = 1,124 ([[Consensus CDS Project|CCDS]])<ref name="CCDS"/>
| type = [[Autosome]]
| centromere_position = [[Centromere#Submetacentric|Submetacentric]]<ref name="StrachanRead2010">{{cite book|author1=Tom Strachan|author2=Andrew Read|title=Human Molecular Genetics|url=https://books.google.com/books?id=dSwWBAAAQBAJ&pg=PA45|date=2 April 2010|publisher=Garland Science|isbn=978-1-136-84407-2|page=45}}</ref><br/>(25.1 Mbp<ref name="850bphs">Genome Decoration Page, NCBI.  [ftp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.</ref>)
| ensembl_id = 17
| entrez_id = 17
| ncbi_id = 17
| ucsc_id = 17
| refseq_id = NC_000017
| genbank_id = CM000679
}}
'''Chromosome 17''' is one of the 23 pairs of [[chromosome]]s in [[human]]s. People normally have two copies of this chromosome. Chromosome 17 spans more than 83 million [[base pair]]s (the building material of [[DNA]]) and represents between 2.5 and 3% of the total DNA in [[cell (biology)|cells]].


==Overview==
Chromosome 17 contains the [[Homeobox]] B gene cluster.
'''Chromosome 17''' is one of the 24 pairs of [[chromosome]]s in [[human]]s. People normally have two copies of this chromosome. Chromosome 17 spans more than 81 million [[base pair]]s (the building material of [[DNA]]) and represents between 2.5 and 3 % of the total DNA in [[cell (biology)|cells]].


Identifying [[gene]]s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 17 likely contains between 1,200 and 1,500 genes.  It also contains the [[Homeobox]] B gene cluster.
==Genes==
{{Category see also|Genes on human chromosome 17}}
The following are some of the gene count estimates of human chromosome 17. Because researchers use different approaches to [[genome annotation]] their predictions of the [[number of genes]] on each chromosome varies (for technical details, see [[gene prediction]]). Among various projects, the collaborative consensus coding sequence project ([[Consensus CDS Project|CCDS]]) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.<ref name="pmid20441615">{{cite journal| author=Pertea M, Salzberg SL| title=Between a chicken and a grape: estimating the number of human genes. | journal=Genome Biol | year= 2010 | volume= 11 | issue= 5 | pages= 206 | pmid=20441615 | doi=10.1186/gb-2010-11-5-206 | pmc=2898077 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20441615  }} </ref>
 
{| class="wikitable" style="text-align:right"
| Estimated by || [[Protein-coding genes]] || [[Non-coding RNA|Non-coding RNA gene]]s || [[Pseudogene]]s || Source || Release date
|-
| [[Consensus CDS Project|CCDS]] || 1,124 || - || -
|style="text-align:center"| <ref name="CCDS">{{cite web | title=Search results - 17&#91;CHR&#93; AND "Homo sapiens"&#91;Organism&#93; AND ("has ccds"&#91;Properties&#93; AND alive&#91;prop&#93;)  - Gene | website= NCBI |version = CCDS Release 20 for ''Homo sapiens'' | url=https://www.ncbi.nlm.nih.gov/gene?term=17%5BChr%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22has%20ccds%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch |date=2016-09-08 | accessdate=2017-05-28}}</ref>
| 2016-09-08
|-
| [[HUGO Gene Nomenclature Committee|HGNC]]|| 1,132 || 325 || 458
|style="text-align:center"| <ref name="HGNC20170512">{{cite web | title=Statistics & Downloads for chromosome 17 | website=HUGO Gene Nomenclature Committee | url=http://www.genenames.org/cgi-bin/statistics?c=17  |date=2017-05-12 | accessdate=2017-05-19}}</ref>
| 2017-05-12
|-
| [[Ensembl genome database project|Ensembl]] || 1,184 || 1,199 || 535
|style="text-align:center"| <ref name="Ensembl Release 88">{{cite web | title=Chromosome 17: Chromosome summary - Homo sapiens | website= Ensembl Release 88 | url=http://mar2017.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=17 |date=2017-03-29 | accessdate=2017-05-19}}</ref>
| 2017-03-29
|-
| [[National Center for Biotechnology Information|NCBI]] || 1,199 || 757 || 566
|style="text-align:center"| <ref name="NCBI coding">{{cite web | title=Search results - 17&#91;CHR&#93; AND "Homo sapiens"&#91;Organism&#93; AND ("genetype protein coding"&#91;Properties&#93; AND alive&#91;prop&#93;)  - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=17%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | accessdate=2017-05-20}}</ref><ref name="NCBI noncoding">{{cite web | title=Search results - 9&#91;CHR&#93; AND "Homo sapiens"&#91;Organism&#93; AND ( ("genetype miscrna"&#91;Properties&#93; OR "genetype ncrna"&#91;Properties&#93; OR "genetype rrna"&#91;Properties&#93; OR "genetype trna"&#91;Properties&#93; OR "genetype scrna"&#91;Properties&#93; OR "genetype snrna"&#91;Properties&#93; OR "genetype snorna"&#91;Properties&#93;) NOT "genetype protein coding"&#91;Properties&#93; AND alive&#91;prop&#93;) - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=17%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%28%22genetype%20miscrna%22%5BProperties%5D%20OR%20%22genetype%20ncrna%22%5BProperties%5D%20OR%20%22genetype%20rrna%22%5BProperties%5D%20OR%20%22genetype%20trna%22%5BProperties%5D%20OR%20%22genetype%20scrna%22%5BProperties%5D%20OR%20%22genetype%20snrna%22%5BProperties%5D%20OR%20%22genetype%20snorna%22%5BProperties%5D%29%20NOT%20%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | accessdate=2017-05-20}}</ref><ref name="NCBI pseudo">{{cite web | title=Search results - 17&#91;CHR&#93; AND "Homo sapiens"&#91;Organism&#93; AND ("genetype pseudo"&#91;Properties&#93; AND alive&#91;prop&#93;)  - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=17%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20pseudo%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | accessdate=2017-05-20}}</ref>
| 2017-05-19
|}
 
* [[2700099C18Rik]]: encoding [[protein]] NDC80 homolog, kinetochore complex component pseudogene
* [[ABI3]]: encoding [[protein]] ABI gene family member 3
* [[ARHGAP44]]: encoding [[protein]] Rho GTPase activating protein 44
* [[AZI1]]: encoding [[protein]] 5-azacytidine-induced protein 1
* [[Breast cancer-related regulator of tp53|BCPR]] encoding [[protein]] Breast cancer-related regulator of TP53
* [[C17orf47]]: encoding [[protein]] Uncharacterized protein C17orf47
* [[C1QL1]]: encoding [[protein]] complement component 1, q subcomponent-like 1
* [[CCDC144A]]: encoding [[protein]] Coiled-coil domain-containing protein 144A
* [[CCDC40 (gene)|CCDC40]]: encoding [[protein]] Coiled-coil domain containing 40
* [[CCDC47]]: encoding [[protein]] CCDC47
* [[CCDC57]]: encoding [[protein]] Coiled-coil domain-containing protein 57
* [[CLUH]]: encoding [[protein]] Clustered mitochondria (cluA/CLU1) homolog
* [[CTDNEP1]]: encoding [[protein]] CTD nuclear envelope phosphatase 1
* [[DEL17P13.1]] encoding [[protein]] Chromosome 17p13.1 deletion syndrome
* [[DPH1]] encoding [[protein]] Diphthamide biosynthesis protein 1
* [[DUP17Q12]]: encoding [[protein]] Chromosome 17q12 duplication syndrome
* [[FAM20A]]: encoding [[protein]] FAM20A
* [[GGT6 (gene)|GGT6]]: encoding [[protein]] Gamma-glutamyltransferase 6
* [[HN1 (gene)|HN1]]: encoding [[protein]] Hematological and neurological expressed 1 protein
* [[Inflammatory bowel disease-22|IBD22]] encoding [[protein]] Inflammatory bowel disease-22
* [[LINC00511]]: encoding [[protein]] Long intergenic non-protein coding RNA 511
* [[LINC00674]] encoding [[protein]] Long intergenic non-protein coding RNA 674
* [[LRRC37A]] encoding [[protein]] Leucine rich repeat containing 37A
* [[LRRC48]]: encoding [[protein]] Leucine-rich repeat-containing protein 48
* [[MGAT5B]]: encoding [[enzyme]] Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
* [[Microrna 4521|MIR4521]]: encoding [[protein]] MicroRNA 4521
* [[Musashi rna binding protein 2|MSI2]]: encoding [[protein]] Musashi RNA binding protein 2
* [[MYBBP1A]]: encoding [[protein]] Myb-binding protein 1A
* [[Neuropeptide B|NBP]]: encoding [[peptide]] Neuropeptide B
* [[NME1-NME2]]:
* [[NXPH3]]: encoding [[protein]] Neurexophilin-3
* [[OMG (gene)|OMG]]: encoding [[protein]] Oligodendrocyte-myelin glycoprotein
* [[Ormdl sphingolipid biosynthesis regulator 3]]: encoding [[protein]] ORMDL sphingolipid biosynthesis regulator 3
* [[PLXDC1]]: encoding [[protein]] Plexin domain-containing protein 1
* [[PNPO]]: encoding [[enzyme]] Pyridoxine-5'-phosphate oxidase
* [[PPP1R27]]: encoding [[protein]] Protein phosphatase 1, regulatory subunit 27
* [[PRCD]]: encoding [[protein]] Progressive rod-cone degeneration
* [[PRPSAP2]]: encoding [[protein]] Phosphoribosyl pyrophosphate synthetase-associated protein 2
* [[QRICH2]]: encoding [[protein]] Glutamine-rich protein 2
* [[RAP1GAP2]]: encoding [[protein]] RAP1 GTPase activating protein 2
* [[RFFL]]: encoding [[enzyme]] E3 ubiquitin-protein ligase rififylin
* [[RNMTL1]]: encoding [[enzyme]] RNA methyltransferase-like protein 1
* [[RPAIN]]: encoding [[protein]] RPA-interacting protein
* [[60S ribosomal protein L23a|RPL23A]]: encoding [[protein]] 60S ribosomal protein L23a
* [[SC65]]: encoding [[protein]] Synaptonemal complex protein SC65
* [[SCPEP1]]: encoding [[enzyme]] Retinoid-inducible serine carboxypeptidase
* [[Sebox homeobox|SEBOX]]: encoding [[protein]] SEBOX homeobox
* [[SECTM1]]: encoding [[protein]] Secreted and transmembrane protein 1
* [[SKA2]]: encoding [[protein]] Spindle and Kinetochore Associated
* [[SLFN11]]: encoding [[protein]] Schlafen family member 11
* [[SLFN12]]: encoding [[protein]] Schlafen family member 12
* [[SNF8]]: encoding [[protein]] Vacuolar-sorting protein SNF8
* [[SPACA3]]: Sperm acrosome membrane-associated [[protein]] 3
* [[Sperm-associated antigen 5|SPAG5]]: encoding [[protein]] Sperm-associated antigen 5
* [[ST6GALNAC1]]: encoding [[enzyme]] Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1
* [[ST6GALNAC2]]: encoding [[enzyme]] Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2
* [[STH (gene)|STH]]: encoding [[protein]] Saitohin
* [[Suz12 polycomb repressive complex 2 subunit pseudogene 1|SUZ12P1]] encoding [[protein]] SUZ12 polycomb repressive complex 2 subunit pseudogene 1
* [[TAC4]]: encoding [[protein]] Tachykinin-4
* [[TBC1D3]]: encoding [[protein]] TBC1 domain family member 3E/3F
* [[TMEM106A]]: encoding [[protein]] transmembrane protein 106A
* [[TMEM98]]: encoding [[protein]] Transmembrane protein 98
* [[TNFSF12-TNFSF13]]:
* [[TOM1L1]]: encoding [[protein]] TOM1-like protein 1
* [[TOM1L2]]: encoding [[protein]] TOM1-like protein 2
* [[Tripartite motif containing 65|TRIM65]]: encoding [[protein]] Tripartite motif containing 65
* [[TSEN54 (gene)|TSEN54]]: encoding [[protein]] TRNA splicing endonuclease subunit 54
* [[Tweety family member 2|TTYH2]]: encoding [[protein]] Tweety family member 2
* [[VAT1]]: encoding [[protein]] Synaptic vesicle membrane protein VAT-1 homolog
* [[VPS25]]: encoding [[protein]] Vacuolar protein-sorting-associated protein 25
* [[VPS53]]: encoding [[protein]] Vacuolar protein sorting 53 homolog (S. cerevisiae)
* [[YBX2]]: encoding [[protein]] Y-box-binding protein 2
* [[ZNF207]]: encoding [[protein]] Zinc finger protein 207
 
 
* Several [[chemokines#CC chemokines|CC chemokines]]: [[CCL1]], [[CCL2]], [[CCL3]], [[CCL4]], [[CCL5]], [[CCL7]], [[CCL8]], [[CCL11]], [[CCL13]], [[CCL14]], [[CCL15]], [[CCL16]], [[CCL18]], and [[CCL23]]
 
The following are some of the genes and their corresponding Cytogenetic location on chromosome 17:


==Genes==
===q-arm=== <!--ORGANIZE BY LOCATION, then alphabetical-->
The following are some of the genes located on chromosome 17:
* [[CCDC55]]: Coiled-coil domain-containing protein 55 (17q11.2)
* [[ACADVL]]: acyl-coenzyme A dehydrogenase, very long chain
* [[FLOT2]]: flotillin 2 (17q11.2)
* [[ACTG1]]: actin, gamma 1
* [[Neurofibromin 1|NF1]]: neurofibromin 1 ([[neurofibromatosis]], von Recklinghausen disease, Watson disease) (17q11.2)
* [[ASPA (gene)|ASPA]]: aspartoacylase (Canavan disease)
* [[SLC6A4]]: [[Serotonin transporter]] linked to [[Obsessive Compulsive Disorder]] (OCD) <ref>{{cite web|title=Obsessive Compulsive Disorder|url=http://omim.org/entry/164230|website=An Online Catalog of Human Genes and Genetic Disorders}}</ref> (17q11.2)
* [[BRCA1]]: breast cancer 1, early onset
* [[CCL4L1]]: C-C motif chemokine ligand 4 like 1 (17q12)
* [[CBX1]]: chromobox homolog 1
* [[DDX52]]: DExD-box helicase 52 (17q12)
* [[COL1A1]]: collagen, type I, alpha 1
* [[ERBB2]] loca leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (17q12)
* ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
* [[GRB7]]: Growth factor Receptor-Bound protein 7 (17q12)
* FLCN: folliculin
* [[BRCA1]]: breast cancer 1, early onset (17q21)
* GALK1: galactokinase 1
* [[GFAP (gene)|GFAP]]: glial fibrillary acidic protein (17q21)
* [[GFAP]]: glial fibrillary acidic protein
* RARA or [[RAR-alpha]]: [[Retinoic acid receptor]] Alpha (involved in t(15,17) with PML) (17q21)
* [[KCNJ2]]: potassium inwardly-rectifying channel, subfamily J, member 2
* [[MAPT]] gene coding for encoding [[tau protein]] (17q21.1)
* MYO15A: myosin XVA
* [[NAGLU]]: N-acetyl glucosaminidase, Sanfilippo B syndrome (17q21.2)
* [[Neurofibromatosis type I|NF1]]: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
* [[SLC4A1]]: Band 3 anion transporter protein. Solute carrier family 4, member 1 (17q21.31)
* PMP22: peripheral myelin protein 22
* [[CBX1]]: chromobox homolog 1 (17q21.32)
* [[SHBG]]: Sex hormone binding globulin
* [[COL1A1]]: collagen, type I, alpha 1 (17q21.33)
* [[TP53]]: tumor protein p53 (Li-Fraumeni syndrome)
* [[LUC7L3]]: LUC7 like 3 pre-mRNA splicing factor (17q21.33)
* [[USH1G]]: Usher syndrome 1G (autosomal recessive)
* [[NOG (gene)|NOG]]: Noggin protein (17q22)
* [[RAI1]]: retinoic acid induced 1
* [[RPS6KB1]] or [[P70-S6 Kinase 1|S6K]]: Ribosomal protein S6-kinase (17q23.1)
* RARalpha: Retenoic Acid Receptor Alpha (involved in t(15,17) with PML)
* [[FTSJ3]]: FtsJ homolog 3 (17q23.3)
* [[GRB7]]: Growth factor Receptor-Bound protein 7
* [[SCN4A]]: Voltage-Gated Sodium Channel Subunit Alpha Nav1.4 (17q23.3)
* Several [[chemokines#CC chemokines|CC chemokines]]: [[CCL1]], [[CCL2]], [[CCL3]], [[CCL4]], [[CCL5]], [[CCL7]], [[CCL8]], [[CCL11]], [[CCL13]], [[CCL14]], [[CCL15]], [[CCL16]], [[CCL18]], and [[CCL23]].
* [[GALK1]]: galactokinase 1 (17q24)
* [[KCNJ2]]: potassium inwardly-rectifying channel, subfamily J, member 2 (17q24.3)
* [[ACTG1]]: actin, gamma 1 (17q25)
* [[CDC42EP4]]: CDC42 effector protein 4 (17q25.1)
* [[USH1G]]: Usher syndrome 1G (autosomal recessive) (17q25.1)
* [[CANT1]]: Calcium-activated nucleotidase 1 (17q25.3)
* [[BIRC5]]: Survivin (17q25.3)
* [[CHMP6]]: Charged multivesicular body protein 6 (17q25.3)
* [[ENPP7]]: ectonucleotide pyrophosphatase/phosphodiesterase 7 (17q25.3)
* [[EPR1]]: Effector cell peptidase receptor 1 (17q25.3
* [[RHBDF2]]: Rhomboid family member 2 (17q25.3)
* [[TMC6]] and [[TMC8]]: Transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis) (17q25.3)
 
===p-arm===
* [[FLCN]]: folliculin (17p11.2)
* [[MYO15A]]: myosin XVA (17p11.2)
* [[RAI1]]: retinoic acid induced 1 (17p11.2)
* [[PMP22]]: peripheral myelin protein 22 (17p12)
* [[CTNS (gene)|CTNS]]: cystinosin, the lysosomal cystine transporter (17p13)
* [[USP6]]: Ubiquitin carboxyl-terminal hydrolase 6 linked to [[Aneurysmal bone cyst]] (17p13)
* [[ACADVL]]: acyl-coenzyme A dehydrogenase, very long chain (17p13.1)
* [[SHBG]]: Sex hormone binding globulin (17p13.1)
* [[TP53]]: tumor suppressor protein p53 (Li-Fraumeni syndrome), [[tumor suppressor gene]] (17p13.1)
* [[ASPA (gene)|ASPA]]: aspartoacylase ([[Canavan disease]]) (17p13.3)
* [[GLOD4]]: glyoxalase domain containing 4 (17p13.3)


==Diseases & disorders==
==Diseases and disorders==
The following diseases are some of those related to genes on chromosome 17:
[[File:World's 4th a Tree Man.jpg|thumb|Inactivating PH mutation in either the [[EVER1]] or [[EVER2]] genes, which are located adjacent to one another on chromosome 17 causes [[Epidermodysplasia verruciformis]].]]
The following diseases are related to genes on chromosome 17:
{{div col |3}}
* [[17Q21.31 Microdeletion Syndrome]]
* [[Alexander disease]]
* [[Alexander disease]]
* [[Andersen-Tawil syndrome]]
* [[Andersen-Tawil syndrome]]
* [[Birt-Hogg-Dubé syndrome]]
* [[Birt-Hogg-Dubé syndrome]]
* [[bladder cancer]]
* [[Bladder cancer]]
* [[breast cancer]]
* [[Breast cancer]]
* [[Bruck syndrome]]
* [[Camptomelic dysplasia]]
* [[Camptomelic dysplasia]]
* [[Canavan disease]]
* [[Canavan disease]]
* [[Cerebroretinal microangiopathy with calcifications and cysts]]
* [[Charcot-Marie-Tooth disease]]
* [[Charcot-Marie-Tooth disease]]
* [[Charcot-Marie-Tooth disease, type 1]]
* [[Corticobasal degeneration]]
* [[Cystinosis]]
* [[Depression (mood)|Depression]]
* [[Ehlers-Danlos syndrome]]
* [[Ehlers-Danlos syndrome]]
* Ehlers-Danlos syndrome, arthrochalasia type
* [[Epidermodysplasia verruciformis]]
* Ehlers-Danlos syndrome, classical type
* [[Galactosemia]]
* [[galactosemia]]
* [[Glycogen storage disease type II]] ([[Johann Pompe|Pompe]] disease)
* hereditary neuropathy with liability to pressure palsies
* [[Hereditary neuropathy with liability to pressure palsies]]
* [[Howel–Evans syndrome]]
* [[Li-Fraumeni syndrome]]
* [[Li-Fraumeni syndrome]]
* [[maturity onset diabetes of the young]] type 5
* [[Maturity onset diabetes of the young]] type 5
* [[neurofibromatosis type I]]
* [[Miller-Dieker syndrome]]
* [[nonsyndromic deafness]]
* [[Multiple synostoses syndrome]]
* [[nonsyndromic deafness, autosomal dominant]]
* [[Neurofibromatosis type I]]
* nonsyndromic deafness, autosomal recessive
* [[Nonsyndromic deafness]]
* [[osteogenesis imperfecta]]
* [[Osteogenesis imperfecta]]
* osteogenesis imperfecta, type I
* [[Potocki-Lupski syndrome]]
* osteogenesis imperfecta, type II
* [[Proximal symphalangism]]
* osteogenesis imperfecta, type III
* osteogenesis imperfecta, type IV
* [[Smith-Magenis syndrome]]
* [[Smith-Magenis syndrome]]
* [[Usher syndrome]]
* [[Usher syndrome]]
* Usher syndrome type I
* [[Very long-chain acyl-coenzyme A dehydrogenase deficiency]]
* [[very long-chain acyl-coenzyme A dehydrogenase deficiency]]
* [[Aneurysmal bone cyst]]
* [[Obsessive Compulsive Disorder]]
{{div col end}}
 
==Cytogenetic band==
{{multiple image
| header = G-banding ideograms of human chromosome 17
| total_width = 400
| image1 = Human chromosome 17 ideogram vertical.svg
| width1 = 216
| height1= 1125
| caption1 = G-banding ideogram of human chromosome 17 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. [[Ensembl]], [[UCSC Genome Browser]]).
| image2 = Human chromosome 17 - 400 550 850 bphs.png
| width2 = 1003
| height2= 2801
| caption2 = G-banding patterns of human chromosome 17 in three different resolutions (400,<ref name="400bphs">Genome Decoration Page, NCBI. [ftp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_400_V1 Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3)]. Last update 2014-03-04. Retrieved 2017-04-26.</ref> 550<ref name="550bphs">Genome Decoration Page, NCBI.  [ftp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_550_V1 Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3)]. Last update 2015-08-11. Retrieved 2017-04-26.</ref> and 850<ref name="850bphs">Genome Decoration Page, NCBI.  [ftp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.</ref>). Band length in this diagram is based on the ideograms from ISCN (2013).<ref name="Nomenclature2013">{{cite book|author=International Standing Committee on Human Cytogenetic Nomenclature|title=ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013)|url=https://books.google.com/books?id=lGCLrh0DIwEC|year=2013|publisher=Karger Medical and Scientific Publishers|isbn=978-3-318-02253-7}}</ref> This type of ideogram represents actual relative band length observed under a microscope at the different moments during the [[Mitosis|mitotic process]].<ref name="SethakulvichaiManitpornsut2012">{{cite journal|last1=Sethakulvichai|first1=W.|last2=Manitpornsut|first2=S.|last3=Wiboonrat|first3=M.|last4=Lilakiatsakun|first4=W.|last5=Assawamakin|first5=A.|last6=Tongsima|first6=S.|title=Estimation of band level resolutions of human chromosome images|year=2012|pages=276–282|journal=In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on|doi=10.1109/JCSSE.2012.6261965|url=https://www.researchgate.net/profile/Anunchai_Assawamakin/publication/261304470_Estimation_of_band_level_resolutions_of_human_chromosome_images/links/5459f7ff0cf2cf516483fffd/Estimation-of-band-level-resolutions-of-human-chromosome-images.pdf}}</ref>
}}
{| class="wikitable" style="text-align:right"
|+ [[G banding|G-band]]s of human chromosome 17 in resolution 850 bphs<ref>Genome Decoration Page, NCBI.  [ftp://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.</ref>
! Chr.
! Arm<ref>"'''p'''": Short arm; "'''q'''": Long arm.</ref>
! Band<ref>For cytogenetic banding nomenclature, see article [[Locus (genetics)|locus]].</ref>
! ISCN<br/>start<ref name="ISCN">These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). [[Arbitrary unit]].</ref>
! ISCN<br/>stop<ref name="ISCN"/>
! Basepair<br/>start
! Basepair<br/>stop
! Stain<ref>'''gpos''': Region which is positively stained by [[G banding]], generally [[GC-content|AT-rich]] and gene poor; '''gneg''': Region which is negatively stained by G banding, generally [[GC-content|CG-rich]] and gene rich; '''acen''' [[Centromere]]. '''var''': Variable region; '''stalk''': Stalk.</ref>
! Density
|-
| 17 || p
|style="text-align:left"| 13.3 || 0 || 385 || {{val|1|fmt=commas}} || {{val|3400000|fmt=commas}}
| style="background:white"| gneg ||
|-
| 17 || p
|style="text-align:left"| 13.2 || 385 || 550 || {{val|3400001|fmt=commas}} || {{val|6500000|fmt=commas}}
|style="background:#979797"| gpos || 50
|-
| 17 || p
|style="text-align:left"| 13.1 || 550 || 784 || {{val|6500001|fmt=commas}} || {{val|10800000|fmt=commas}}
| style="background:white"| gneg ||
|-
| 17 || p
|style="text-align:left"| 12 || 784 || 990 || {{val|10800001|fmt=commas}} || {{val|16100000|fmt=commas}}
|style="background:#636363; color:white;"| gpos || 75
|-
| 17 || p
|style="text-align:left"| 11.2 || 990 || 1499 || {{val|16100001|fmt=commas}} || {{val|22700000|fmt=commas}}
| style="background:white"| gneg ||
|-
| 17 || p
|style="text-align:left"| 11.1 || 1499 || 1664 || {{val|22700001|fmt=commas}} || {{val|25100000|fmt=commas}}
|style="background:#6e7f8f; color:white;"| acen ||
|-
| 17 || q
|style="text-align:left"| 11.1 || 1664 || 1815 || {{val|25100001|fmt=commas}} || {{val|27400000|fmt=commas}}
|style="background:#6e7f8f; color:white;"| acen ||
|-
| 17 || q
|style="text-align:left"| 11.2 || 1815 || 2104 || {{val|27400001|fmt=commas}} || {{val|33500000|fmt=commas}}
| style="background:white"| gneg ||
|-
| 17 || q
|style="text-align:left"| 12 || 2104 || 2255 || {{val|33500001|fmt=commas}} || {{val|39800000|fmt=commas}}
|style="background:#979797"| gpos || 50
|-
| 17 || q
|style="text-align:left"| 21.1 || 2255 || 2461 || {{val|39800001|fmt=commas}} || {{val|40200000|fmt=commas}}
| style="background:white"| gneg ||
|-
| 17 || q
|style="text-align:left"| 21.2 || 2461 || 2599 || {{val|40200001|fmt=commas}} || {{val|42800000|fmt=commas}}
|style="background:#d9d9d9"| gpos || 25
|-
| 17 || q
|style="text-align:left"| 21.31 || 2599 || 2874 || {{val|42800001|fmt=commas}} || {{val|46800000|fmt=commas}}
| style="background:white"| gneg ||
|-
| 17 || q
|style="text-align:left"| 21.32 || 2874 || 3025 || {{val|46800001|fmt=commas}} || {{val|49300000|fmt=commas}}
|style="background:#d9d9d9"| gpos || 25
|-
| 17 || q
|style="text-align:left"| 21.33 || 3025 || 3176 || {{val|49300001|fmt=commas}} || {{val|52100000|fmt=commas}}
| style="background:white"| gneg ||
|-
| 17 || q
|style="text-align:left"| 22 || 3176 || 3383 || {{val|52100001|fmt=commas}} || {{val|59500000|fmt=commas}}
|style="background:#636363; color:white;"| gpos || 75
|-
| 17 || q
|style="text-align:left"| 23.1 || 3383 || 3451 || {{val|59500001|fmt=commas}} || {{val|60200000|fmt=commas}}
| style="background:white"| gneg ||
|-
| 17 || q
|style="text-align:left"| 23.2 || 3451 || 3658 || {{val|60200001|fmt=commas}} || {{val|63100000|fmt=commas}}
|style="background:#636363; color:white;"| gpos || 75
|-
| 17 || q
|style="text-align:left"| 23.3 || 3658 || 3781 || {{val|63100001|fmt=commas}} || {{val|64600000|fmt=commas}}
| style="background:white"| gneg ||
|-
| 17 || q
|style="text-align:left"| 24.1 || 3781 || 3850 || {{val|64600001|fmt=commas}} || {{val|66200000|fmt=commas}}
|style="background:#979797"| gpos || 50
|-
| 17 || q
|style="text-align:left"| 24.2 || 3850 || 4001 || {{val|66200001|fmt=commas}} || {{val|69100000|fmt=commas}}
| style="background:white"| gneg ||
|-
| 17 || q
|style="text-align:left"| 24.3 || 4001 || 4166 || {{val|69100001|fmt=commas}} || {{val|72900000|fmt=commas}}
|style="background:#636363; color:white;"| gpos || 75
|-
| 17 || q
|style="text-align:left"| 25.1 || 4166 || 4400 || {{val|72900001|fmt=commas}} || {{val|76800000|fmt=commas}}
| style="background:white"| gneg ||
|-
| 17 || q
|style="text-align:left"| 25.2 || 4400 || 4510 || {{val|76800001|fmt=commas}} || {{val|77200000|fmt=commas}}
|style="background:#d9d9d9"| gpos || 25
|-
| 17 || q
|style="text-align:left"| 25.3 || 4510 || 4950 || {{val|77200001|fmt=commas}} || {{val|83257441|fmt=commas}}
| style="background:white"| gneg ||
|}


==References==
==References==
* {{cite journal | author=Gilbert F | title=Disease genes and chromosomes: disease maps of the human genome. Chromosome 17 | journal=Genet Test | year=1998 | pages=357-81 | volume=2 | issue=4  | id=PMID 10464617}}
{{Reflist}}
 
* {{cite journal | author=Gilbert F | title=Disease genes and chromosomes: disease maps of the human genome. Chromosome 17 | journal=Genet Test | year=1998 | pages=357–81 | volume=2 | issue=4  | pmid=10464617 | doi=10.1089/gte.1998.2.357}}
{{genetics-stub}}
* Gene Card Website http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCN4A


{{Template:Chromosomes}}
==External links==
{{Commons category|Human chromosome 17}}
* {{cite web | author= National Institutes of Health  | title= Chromosome 17| work= Genetics Home Reference | url= http://ghr.nlm.nih.gov/chromosome=17| accessdate=2017-05-06}}
* {{Cite web|url=http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo17.shtml|title=Chromosome 17|website=Human Genome Project Information Archive 1990–2003|access-date=2017-05-06}}


[[Category:Chromosomes]]
{{Chromosomes}}
{{Chromosome genetics}}


[[ca:Cromosoma 17]]
{{DEFAULTSORT:Chromosome 17 (Human)}}
[[es:Cromosoma 17]]
[[Category:Chromosomes (human)]]
[[fr:Chromosome 17 humain]]
[[Category:Genes on human chromosome 17|*]]
[[it:Cromosoma 17 (umano)]]
[[hu:Humán 17-es kromoszóma]]
[[no:Kromosom 17]]
[[pl:Chromosom 17]]
[[pt:Cromossoma 17 (humano)]]
[[sr:Хромозом 17 (човек)]]
[[tr:Kromozom 17]]
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Latest revision as of 13:07, 29 November 2017

Chromosome 17 (human)
File:Human male karyotpe high resolution - Chromosome 17 cropped.png
Human chromosome 17 pair after G-banding.
One is from mother, one is from father.
File:Human male karyotpe high resolution - Chromosome 17.png
Chromosome 17 pair
in human male karyogram.
Features
Length (bp)83,257,441 bp
(GRCh38)[1]
No. of genes1,124 (CCDS)[2]
TypeAutosome
Centromere positionSubmetacentric[3]
(25.1 Mbp[4])
Complete gene lists
CCDS?
HGNC?
UniProt?
NCBI?
External map viewers
EnsemblChromosome 17
EntrezChromosome 17
NCBIChromosome 17
UCSCChromosome 17
Full DNA sequences
RefSeqNC_000017 (FASTA)
GenBankCM000679 (FASTA)

Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 83 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total DNA in cells.

Chromosome 17 contains the Homeobox B gene cluster.

Genes

See also: Category:Genes on human chromosome 17.

The following are some of the gene count estimates of human chromosome 17. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[5]

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
CCDS 1,124 - - [2] 2016-09-08
HGNC 1,132 325 458 [6] 2017-05-12
Ensembl 1,184 1,199 535 [7] 2017-03-29
NCBI 1,199 757 566 [8][9][10] 2017-05-19


The following are some of the genes and their corresponding Cytogenetic location on chromosome 17:

q-arm

  • CCDC55: Coiled-coil domain-containing protein 55 (17q11.2)
  • FLOT2: flotillin 2 (17q11.2)
  • NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) (17q11.2)
  • SLC6A4: Serotonin transporter linked to Obsessive Compulsive Disorder (OCD) [11] (17q11.2)
  • CCL4L1: C-C motif chemokine ligand 4 like 1 (17q12)
  • DDX52: DExD-box helicase 52 (17q12)
  • ERBB2 loca leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (17q12)
  • GRB7: Growth factor Receptor-Bound protein 7 (17q12)
  • BRCA1: breast cancer 1, early onset (17q21)
  • GFAP: glial fibrillary acidic protein (17q21)
  • RARA or RAR-alpha: Retinoic acid receptor Alpha (involved in t(15,17) with PML) (17q21)
  • MAPT gene coding for encoding tau protein (17q21.1)
  • NAGLU: N-acetyl glucosaminidase, Sanfilippo B syndrome (17q21.2)
  • SLC4A1: Band 3 anion transporter protein. Solute carrier family 4, member 1 (17q21.31)
  • CBX1: chromobox homolog 1 (17q21.32)
  • COL1A1: collagen, type I, alpha 1 (17q21.33)
  • LUC7L3: LUC7 like 3 pre-mRNA splicing factor (17q21.33)
  • NOG: Noggin protein (17q22)
  • RPS6KB1 or S6K: Ribosomal protein S6-kinase (17q23.1)
  • FTSJ3: FtsJ homolog 3 (17q23.3)
  • SCN4A: Voltage-Gated Sodium Channel Subunit Alpha Nav1.4 (17q23.3)
  • GALK1: galactokinase 1 (17q24)
  • KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2 (17q24.3)
  • ACTG1: actin, gamma 1 (17q25)
  • CDC42EP4: CDC42 effector protein 4 (17q25.1)
  • USH1G: Usher syndrome 1G (autosomal recessive) (17q25.1)
  • CANT1: Calcium-activated nucleotidase 1 (17q25.3)
  • BIRC5: Survivin (17q25.3)
  • CHMP6: Charged multivesicular body protein 6 (17q25.3)
  • ENPP7: ectonucleotide pyrophosphatase/phosphodiesterase 7 (17q25.3)
  • EPR1: Effector cell peptidase receptor 1 (17q25.3
  • RHBDF2: Rhomboid family member 2 (17q25.3)
  • TMC6 and TMC8: Transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis) (17q25.3)

p-arm

  • FLCN: folliculin (17p11.2)
  • MYO15A: myosin XVA (17p11.2)
  • RAI1: retinoic acid induced 1 (17p11.2)
  • PMP22: peripheral myelin protein 22 (17p12)
  • CTNS: cystinosin, the lysosomal cystine transporter (17p13)
  • USP6: Ubiquitin carboxyl-terminal hydrolase 6 linked to Aneurysmal bone cyst (17p13)
  • ACADVL: acyl-coenzyme A dehydrogenase, very long chain (17p13.1)
  • SHBG: Sex hormone binding globulin (17p13.1)
  • TP53: tumor suppressor protein p53 (Li-Fraumeni syndrome), tumor suppressor gene (17p13.1)
  • ASPA: aspartoacylase (Canavan disease) (17p13.3)
  • GLOD4: glyoxalase domain containing 4 (17p13.3)

Diseases and disorders

File:World's 4th a Tree Man.jpg
Inactivating PH mutation in either the EVER1 or EVER2 genes, which are located adjacent to one another on chromosome 17 causes Epidermodysplasia verruciformis.

The following diseases are related to genes on chromosome 17:

Cytogenetic band

G-banding ideograms of human chromosome 17
File:Human chromosome 17 ideogram vertical.svg
G-banding ideogram of human chromosome 17 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. Ensembl, UCSC Genome Browser).
File:Human chromosome 17 - 400 550 850 bphs.png
G-banding patterns of human chromosome 17 in three different resolutions (400,[12] 550[13] and 850[4]). Band length in this diagram is based on the ideograms from ISCN (2013).[14] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[15]
G-bands of human chromosome 17 in resolution 850 bphs[16]
Chr. Arm[17] Band[18] ISCN
start[19] 		ISCN
stop[19] 		Basepair
start 		Basepair
stop 		Stain[20] Density
17 p 13.3 0 385 1 3,400,000 gneg
17 p 13.2 385 550 3,400,001 6,500,000 gpos 50
17 p 13.1 550 784 6,500,001 10,800,000 gneg
17 p 12 784 990 10,800,001 16,100,000 gpos 75
17 p 11.2 990 1499 16,100,001 22,700,000 gneg
17 p 11.1 1499 1664 22,700,001 25,100,000 acen
17 q 11.1 1664 1815 25,100,001 27,400,000 acen
17 q 11.2 1815 2104 27,400,001 33,500,000 gneg
17 q 12 2104 2255 33,500,001 39,800,000 gpos 50
17 q 21.1 2255 2461 39,800,001 40,200,000 gneg
17 q 21.2 2461 2599 40,200,001 42,800,000 gpos 25
17 q 21.31 2599 2874 42,800,001 46,800,000 gneg
17 q 21.32 2874 3025 46,800,001 49,300,000 gpos 25
17 q 21.33 3025 3176 49,300,001 52,100,000 gneg
17 q 22 3176 3383 52,100,001 59,500,000 gpos 75
17 q 23.1 3383 3451 59,500,001 60,200,000 gneg
17 q 23.2 3451 3658 60,200,001 63,100,000 gpos 75
17 q 23.3 3658 3781 63,100,001 64,600,000 gneg
17 q 24.1 3781 3850 64,600,001 66,200,000 gpos 50
17 q 24.2 3850 4001 66,200,001 69,100,000 gneg
17 q 24.3 4001 4166 69,100,001 72,900,000 gpos 75
17 q 25.1 4166 4400 72,900,001 76,800,000 gneg
17 q 25.2 4400 4510 76,800,001 77,200,000 gpos 25
17 q 25.3 4510 4950 77,200,001 83,257,441 gneg

References

  1. ↑ "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for Biotechnology Information. 2013-12-24. Retrieved 2017-03-04.
  2. ↑ 2.0 2.1 "Search results - 17[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Retrieved 2017-05-28.
  3. ↑ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.
  4. ↑ 4.0 4.1 Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  5. ↑ Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes". Genome Biol. 11 (5): 206. doi:10.1186/gb-2010-11-5-206. PMC 2898077. PMID 20441615.
  6. ↑ "Statistics & Downloads for chromosome 17". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.
  7. ↑ "Chromosome 17: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.
  8. ↑ "Search results - 17[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  9. ↑ "Search results - 9[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  10. ↑ "Search results - 17[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
  11. ↑ "Obsessive Compulsive Disorder". An Online Catalog of Human Genes and Genetic Disorders.
  12. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
  13. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
  14. ↑ International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.
  15. ↑ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images" (PDF). In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965.
  16. ↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  17. ↑ "p": Short arm; "q": Long arm.
  18. ↑ For cytogenetic banding nomenclature, see article locus.
  19. ↑ 19.0 19.1 These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
  20. ↑ gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.

External links

  • National Institutes of Health. "Chromosome 17". Genetics Home Reference. Retrieved 2017-05-06.
  • "Chromosome 17". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.
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