ALS2: Difference between revisions

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{{Infobox_gene}}
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'''Alsin''' is a [[protein]] that in humans is encoded by the ''ALS2'' [[gene]].<ref name="pmid11586298">{{cite journal |vauthors=Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, ((Brown RH Jr)), Scherer SW, Rouleau GA, Hayden MR, Ikeda JE | title = A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 | journal = Nat Genet | volume = 29 | issue = 2 | pages = 166–73 |date=Oct 2001 | pmid = 11586298 | pmc =  | doi = 10.1038/ng1001-166 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57679| accessdate = }}</ref> ''ALS2'' [[orthologs]] <ref name="OrthoMaM">{{cite web | title = OrthoMaM phylogenetic marker: ALS2 coding sequence | url = http://www.orthomam.univ-montp2.fr/orthomam/data/cds/detailMarkers/ENSG00000003393_ALS2.xml }}</ref> have been identified in all [[mammals]] for which complete genome data are available.
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==See also==
{{GNF_Protein_box
* [[Juvenile primary lateral sclerosis]]
| image =
* [[Amyotrophic lateral sclerosis]]
| image_source =
| PDB =
| Name = Amyotrophic lateral sclerosis 2 (juvenile)
| HGNCid = 443
| Symbol = ALS2
| AltSymbols =; ALS2CR6; ALSJ; FLJ31851; IAHSP; KIAA1563; MGC87187; PLSJ
| OMIM = 606352
| ECnumber = 
| Homologene = 23264
| MGIid = 1921268
| GeneAtlas_image1 = PBB_GE_ALS2_gnf1h00370_at_tn.png
| Function = {{GNF_GO|id=GO:0005085 |text = guanyl-nucleotide exchange factor activity}} {{GNF_GO|id=GO:0005087 |text = Ran guanyl-nucleotide exchange factor activity}} {{GNF_GO|id=GO:0005089 |text = Rho guanyl-nucleotide exchange factor activity}} {{GNF_GO|id=GO:0017112 |text = Rab guanyl-nucleotide exchange factor activity}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005769 |text = early endosome}} {{GNF_GO|id=GO:0005829 |text = cytosol}} {{GNF_GO|id=GO:0042598 |text = vesicular fraction}}
| Process = {{GNF_GO|id=GO:0001662 |text = behavioral fear response}} {{GNF_GO|id=GO:0006979 |text = response to oxidative stress}} {{GNF_GO|id=GO:0007032 |text = endosome organization and biogenesis}} {{GNF_GO|id=GO:0007626 |text = locomotory behavior}} {{GNF_GO|id=GO:0035023 |text = regulation of Rho protein signal transduction}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 57679
    | Hs_Ensembl = ENSG00000003393
    | Hs_RefseqProtein = NP_065970
    | Hs_RefseqmRNA = NM_020919
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 202273522
    | Hs_GenLoc_end = 202353983
    | Hs_Uniprot = Q96Q42
    | Mm_EntrezGene = 74018
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = NM_028717
    | Mm_RefseqProtein = NP_082993
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Amyotrophic lateral sclerosis 2 (juvenile)''', also known as '''ALS2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57679| accessdate = }}</ref>


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==References==
{{PBB_Summary
{{reflist}}
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| summary_text =
}}


==References==
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  | author=Hadano S |title=[Causative genes for familial amyotrophic lateral sclerosis] |journal=Seikagaku |volume=74 |issue= 6 |pages= 483–9 |year= 2002 |pmid= 12138710 |doi=  }}
| citations =
*{{cite journal  | author=Nakajima D |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=10.1093/dnares/9.3.99 | name-list-format=vanc | author2=Okazaki N  | author3=Yamakawa H  | display-authors=3  | last4=Kikuno  | first4=R  | last5=Ohara  | first5=O  | last6=Nagase  | first6=T  }}
*{{cite journal  | author=Hadano S |title=[Causative genes for familial amyotrophic lateral sclerosis] |journal=Seikagaku |volume=74 |issue= 6 |pages= 483-9 |year= 2002 |pmid= 12138710 |doi=  }}
*{{cite journal  | author=Hadano S |title=A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34 |journal=Genomics |volume=55 |issue= 1 |pages= 106–12 |year= 1999 |pmid= 9889004 |doi= 10.1006/geno.1998.5637 | name-list-format=vanc | author2=Nichol K  | author3=Brinkman RR  | display-authors=3  | last4=Nasir  | first4=J  | last5=Martindale  | first5=D  | last6=Koop  | first6=BF | last7=Nicholson | first7=DW  | last8=Scherer  | first8=SW  | last9=Ikeda  | first9=JE }}
*{{cite journal  | author=Nakajima D, Okazaki N, Yamakawa H, ''et al.'' |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. |journal=DNA Res. |volume=9 |issue= 3 |pages= 99-106 |year= 2003 |pmid= 12168954 |doi=  }}
*{{cite journal  | author=Hosler BA |title=Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33 |journal=Neurogenetics |volume=2 |issue= 1 |pages= 34–42 |year= 2000 |pmid= 9933298 |doi=10.1007/s100480050049 | name-list-format=vanc | author2=Sapp PC  | author3=Berger R  | display-authors=3  | last4=O'Neill  | first4=Gilmore  | last5=Bejaoui  | first5=Khemissa  | last6=Hamida  | first6=Mongi Ben  | last7=Hentati | first7=Faycal  | last8=Chin  | first8=Wendy  | last9=McKenna-Yasek  | first9=Diane  }}
*{{cite journal  | author=Hadano S, Nichol K, Brinkman RR, ''et al.'' |title=A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34. |journal=Genomics |volume=55 |issue= 1 |pages= 106-12 |year= 1999 |pmid= 9889004 |doi= 10.1006/geno.1998.5637 }}
*{{cite journal  | author=Nagase T |title=Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro |journal=DNA Res. |volume=7 |issue= 4 |pages= 273–81 |year= 2001 |pmid= 10997877 |doi= 10.1093/dnares/7.4.271| name-list-format=vanc | author2=Kikuno R  | author3=Nakayama M  | display-authors=3  | last4=Hirosawa  | first4=M  | last5=Ohara  | first5=O }}
*{{cite journal  | author=Hosler BA, Sapp PC, Berger R, ''et al.'' |title=Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33. |journal=Neurogenetics |volume=2 |issue= 1 |pages= 34-42 |year= 2000 |pmid= 9933298 |doi=  }}
*{{cite journal  | author=Yang Y |title=The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis |journal=Nat. Genet. |volume=29 |issue= 2 |pages= 160–5 |year= 2001 |pmid= 11586297 |doi= 10.1038/ng1001-160 | name-list-format=vanc | author2=Hentati A  | author3=Deng HX  | display-authors=3  | last4=Dabbagh  | first4=Omar  | last5=Sasaki  | first5=Toru  | last6=Hirano  | first6=Makito  | last7=Hung | first7=Wu-Yen  | last8=Ouahchi  | first8=Karim  | last9=Yan  | first9=Jianhua }}
*{{cite journal | author=Nagase T, Kikuno R, Nakayama M, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=7 |issue= 4 |pages= 273-81 |year= 2001 |pmid= 10997877 |doi=  }}
*{{cite journal  | author=Birkenhäger R |title=Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 310–4 |year= 2001 |pmid= 11687798 |doi= 10.1038/ng752  | name-list-format=vanc | author2=Otto E  | author3=Schürmann MJ  | display-authors=3  | last4=Vollmer | first4=Martin | last5=Ruf  | first5=Eva-Maria  | last6=Maier-Lutz  | first6=Irina  | last7=Beekmann  | first7=Frank  | last8=Fekete  | first8=Andrea  | last9=Omran  | first9=Heymut }}
*{{cite journal  | author=Yang Y, Hentati A, Deng HX, ''et al.'' |title=The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. |journal=Nat. Genet. |volume=29 |issue= 2 |pages= 160-5 |year= 2001 |pmid= 11586297 |doi= 10.1038/ng1001-160 }}
*{{cite journal  | author=Eymard-Pierre E |title=Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene |journal=Am. J. Hum. Genet. |volume=71 |issue= 3 |pages= 518–27 |year= 2002 |pmid= 12145748 |doi=10.1086/342359 | pmc=379189 | name-list-format=vanc | author2=Lesca G  | author3=Dollet S  | display-authors=3  | last4=Santorelli  | first4=Filippo Maria  | last5=Di Capua  | first5=Matteo  | last6=Bertini  | first6=Enrico  | last7=Boespflug-Tanguy  | first7=Odile  }}
*{{cite journal | author=Hadano S, Hand CK, Osuga H, ''et al.'' |title=A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. |journal=Nat. Genet. |volume=29 |issue= 2 |pages= 166-73 |year= 2001 |pmid= 11586298 |doi= 10.1038/ng1001-166 }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241  | name-list-format=vanc | author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal | author=Birkenhäger R, Otto E, Schürmann MJ, ''et al.'' |title=Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 310-4 |year= 2001 |pmid= 11687798 |doi= 10.1038/ng752 }}
*{{cite journal  | author=Lesca G |title=Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families |journal=Neurology |volume=60 |issue= 4 |pages= 674–82 |year= 2004 |pmid= 12601111 |doi= 10.1212/01.wnl.0000048207.28790.25| name-list-format=vanc | author2=Eymard-Pierre E  | author3=Santorelli FM  | display-authors=3  | last4=Cusmai  | first4=R  | last5=Di Capua  | first5=M  | last6=Valente  | first6=EM  | last7=Attia-Sobol  | first7=J  | last8=Plauchu  | first8=H  | last9=Leuzzi  | first9=V  }}
*{{cite journal | author=Eymard-Pierre E, Lesca G, Dollet S, ''et al.'' |title=Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. |journal=Am. J. Hum. Genet. |volume=71 |issue= 3 |pages= 518-27 |year= 2002 |pmid= 12145748 |doi=  }}
*{{cite journal  | author=Otomo A |title=ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1671–87 |year= 2003 |pmid= 12837691 |doi=10.1093/hmg/ddg184  | name-list-format=vanc | author2=Hadano S  | author3=Okada T  | display-authors=3  | last4=Mizumura  | first4=H  | last5=Kunita  | first5=R  | last6=Nishijima  | first6=H  | last7=Showguchi-Miyata  | first7=J  | last8=Yanagisawa  | first8=Y  | last9=Kohiki  | first9=E  }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Nagano I |title=Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis |journal=Neurol. Res. |volume=25 |issue= 5 |pages= 505–9 |year= 2003 |pmid= 12866199 |doi=10.1179/016164103101201733  | name-list-format=vanc | author2=Murakami T  | author3=Shiote M  | display-authors=3  | last4=Manabe  | first4=Yasuhiro  | last5=Hadano  | first5=Shinji  | last6=Yanagisawa  | first6=Yoshiko  | last7=Ikeda  | first7=Joh-E  | last8=Abe  | first8=Koji  }}
*{{cite journal | author=Lesca G, Eymard-Pierre E, Santorelli FM, ''et al.'' |title=Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. |journal=Neurology |volume=60 |issue= 4 |pages= 674-82 |year= 2004 |pmid= 12601111 |doi=  }}
*{{cite journal  | author=Devon RS |title=The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings |journal=Clin. Genet. |volume=64 |issue= 3 |pages= 210–5 |year= 2004 |pmid= 12919135 |doi=10.1034/j.1399-0004.2003.00138.x  | name-list-format=vanc | author2=Helm JR  | author3=Rouleau GA  | display-authors=3  | last4=Leitner  | first4=Y  | last5=Lerman-Sagie  | first5=T  | last6=Lev  | first6=D  | last7=Hayden  | first7=MR  }}
*{{cite journal  | author=Otomo A, Hadano S, Okada T, ''et al.'' |title=ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1671-87 |year= 2003 |pmid= 12837691 |doi=  }}
*{{cite journal  | author=Yamanaka K |title=Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 26 |pages= 16041–6 |year= 2004 |pmid= 14668431 |doi= 10.1073/pnas.2635267100  | pmc=307689  | name-list-format=vanc | author2=Vande Velde C  | author3=Eymard-Pierre E  | display-authors=3  | last4=Bertini  | first4=E  | last5=Boespflug-Tanguy  | first5=O  | last6=Cleveland  | first6=DW }}
*{{cite journal | author=Nagano I, Murakami T, Shiote M, ''et al.'' |title=Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis. |journal=Neurol. Res. |volume=25 |issue= 5 |pages= 505-9 |year= 2003 |pmid= 12866199 |doi= }}
*{{cite journal  | author=Hand CK |title=Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis |journal=Arch. Neurol. |volume=60 |issue= 12 |pages= 1768–71 |year= 2004 |pmid= 14676054 |doi= 10.1001/archneur.60.12.1768  | name-list-format=vanc | author2=Devon RS  | author3=Gros-Louis F  | display-authors=3  | last4=Rochefort  | first4=D  | last5=Khoris  | first5=J  | last6=Meininger  | first6=V  | last7=Bouchard  | first7=JP  | last8=Camu  | first8=W  | last9=Hayden  | first9=MR }}
*{{cite journal  | author=Devon RS, Helm JR, Rouleau GA, ''et al.'' |title=The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. |journal=Clin. Genet. |volume=64 |issue= 3 |pages= 210-5 |year= 2004 |pmid= 12919135 |doi=  }}
*{{cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285  | name-list-format=vanc | author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
*{{cite journal | author=Yamanaka K, Vande Velde C, Eymard-Pierre E, ''et al.'' |title=Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 26 |pages= 16041-6 |year= 2004 |pmid= 14668431 |doi= 10.1073/pnas.2635267100 }}
*{{cite journal  | author=Kanekura K |title=Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants |journal=J. Biol. Chem. |volume=279 |issue= 18 |pages= 19247–56 |year= 2004 |pmid= 14970233 |doi= 10.1074/jbc.M313236200  | name-list-format=vanc | author2=Hashimoto Y  | author3=Niikura T  | display-authors=3  | last4=Aiso  | first4=S  | last5=Matsuoka  | first5=M  | last6=Nishimoto  | first6=I }}
*{{cite journal  | author=Hand CK, Devon RS, Gros-Louis F, ''et al.'' |title=Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis. |journal=Arch. Neurol. |volume=60 |issue= 12 |pages= 1768-71 |year= 2004 |pmid= 14676054 |doi= 10.1001/archneur.60.12.1768 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Kanekura K, Hashimoto Y, Niikura T, ''et al.'' |title=Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants. |journal=J. Biol. Chem. |volume=279 |issue= 18 |pages= 19247-56 |year= 2004 |pmid= 14970233 |doi= 10.1074/jbc.M313236200 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
{{WikiDoc Sources}}
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=iahsp  GeneReviews/NCBI/NIH/UW entry on ALS2-Related Disorders]
* [https://www.ncbi.nlm.nih.gov/omim/205100,606352,606353,607225,205100,606352,606353,607225  OMIM entries on ALS2-Related Disorders]
*[http://ghr.nlm.nih.gov/gene/ALS2  Genetics Home Reference- US National Library of Medicine®]
* {{UCSC gene info|ALS2}}
 
{{gene-2-stub}}
{{GTP-binding protein regulators}}

Latest revision as of 17:58, 29 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Alsin is a protein that in humans is encoded by the ALS2 gene.[1][2] ALS2 orthologs [3] have been identified in all mammals for which complete genome data are available.

See also

References

  1. ↑ Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE (Oct 2001). "A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2". Nat Genet. 29 (2): 166–73. doi:10.1038/ng1001-166. PMID 11586298.
  2. ↑ "Entrez Gene: ALS2 amyotrophic lateral sclerosis 2 (juvenile)".
  3. ↑ "OrthoMaM phylogenetic marker: ALS2 coding sequence".

Further reading

External links

Retrieved from "https://www.wikidoc.org/index.php?title=ALS2&oldid=1412119"