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{{Infobox_gene}}
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'''Probable histone-lysine N-methyltransferase NSD2''' is an [[enzyme]] that in humans is encoded by the ''WHSC1'' [[gene]].<ref name="pmid9618163">{{cite journal | vauthors = Stec I, Wright TJ, van Ommen GJ, de Boer PA, van Haeringen A, Moorman AF, Altherr MR, den Dunnen JT | title = WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma | journal = Hum Mol Genet | volume = 7 | issue = 7 | pages = 1071–82 |date=Jan 1999 | pmid = 9618163 | pmc =  | doi =10.1093/hmg/7.7.1071 }}</ref><ref name="pmid9787135">{{cite journal | vauthors = Chesi M, Nardini E, Lim RS, Smith KD, Kuehl WM, Bergsagel PL | title = The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts | journal = Blood | volume = 92 | issue = 9 | pages = 3025–34 |date=Nov 1998 | pmid = 9787135 | pmc =  | doi =  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: WHSC1 Wolf-Hirschhorn syndrome candidate 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7468| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Wolf-Hirschhorn syndrome candidate 1
| HGNCid = 12766
| Symbol = WHSC1
| AltSymbols =; FLJ23286; KIAA1090; MMSET; NSD2; REIIBP; TRX5; WHS
| OMIM = 602952
| ECnumber =
| Homologene = 26175
| MGIid = 1276574
  | GeneAtlas_image1 = PBB_GE_WHSC1_209054_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_WHSC1_209052_s_at_tn.png
  | Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0008168 |text = methyltransferase activity}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}} {{GNF_GO|id=GO:0018024 |text = histone-lysine N-methyltransferase activity}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0009653 |text = anatomical structure morphogenesis}} {{GNF_GO|id=GO:0016568 |text = chromatin modification}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 7468
    | Hs_Ensembl = ENSG00000109685
    | Hs_RefseqProtein = NP_001035889
    | Hs_RefseqmRNA = NM_001042424
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 4
    | Hs_GenLoc_start = 1842995
    | Hs_GenLoc_end = 1953732
    | Hs_Uniprot = O96028
    | Mm_EntrezGene = 107823
    | Mm_Ensembl = ENSMUSG00000057406
    | Mm_RefseqmRNA = XM_132006
    | Mm_RefseqProtein = XP_132006
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 5
    | Mm_GenLoc_start = 34159998
    | Mm_GenLoc_end = 34212569
    | Mm_Uniprot = Q8BVE8
  }}
}}
'''Wolf-Hirschhorn syndrome candidate 1''', also known as '''WHSC1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: WHSC1 Wolf-Hirschhorn syndrome candidate 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7468| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences.<ref name="entrez">{{cite web | title = Entrez Gene: WHSC1 Wolf-Hirschhorn syndrome candidate 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7468| accessdate = }}</ref>
| summary_text = This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences.<ref name="entrez">{{cite web | title = Entrez Gene: WHSC1 Wolf-Hirschhorn syndrome candidate 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7468| accessdate = }}</ref>
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Gutmajster E, Rokicka A |title=[Genetic determination of Wolf-Hirschhorn syndrome ] |journal=Wiad. Lek. |volume=55 |issue= 11-12 |pages= 706-10 |year= 2003 |pmid= 12715353 |doi=  }}
*{{cite journal  | vauthors=Gutmajster E, Rokicka A |title=[Genetic determination of Wolf-Hirschhorn syndrome ] |journal=Wiad. Lek. |volume=55 |issue= 11-12 |pages= 706–10 |year= 2003 |pmid= 12715353 |doi=  }}
*{{cite journal  | author=Bergemann AD, Cole F, Hirschhorn K |title=The etiology of Wolf-Hirschhorn syndrome. |journal=Trends Genet. |volume=21 |issue= 3 |pages= 188-95 |year= 2005 |pmid= 15734578 |doi= 10.1016/j.tig.2005.01.008 }}
*{{cite journal  | vauthors=Bergemann AD, Cole F, Hirschhorn K |title=The etiology of Wolf-Hirschhorn syndrome. |journal=Trends Genet. |volume=21 |issue= 3 |pages= 188–95 |year= 2005 |pmid= 15734578 |doi= 10.1016/j.tig.2005.01.008 }}
*{{cite journal | author=Wright TJ, Ricke DO, Denison K, ''et al.'' |title=A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. |journal=Hum. Mol. Genet. |volume=6 |issue= 2 |pages= 317-24 |year= 1997 |pmid= 9063753 |doi=  }}
*{{cite journal   |vauthors=Wright TJ, Ricke DO, Denison K, etal |title=A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. |journal=Hum. Mol. Genet. |volume=6 |issue= 2 |pages= 317–24 |year= 1997 |pmid= 9063753 |doi=10.1093/hmg/6.2.317 }}
*{{cite journal | author=Chesi M, Nardini E, Brents LA, ''et al.'' |title=Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. |journal=Nat. Genet. |volume=16 |issue= 3 |pages= 260-4 |year= 1997 |pmid= 9207791 |doi= 10.1038/ng0797-260 }}
*{{cite journal   |vauthors=Chesi M, Nardini E, Brents LA, etal |title=Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. |journal=Nat. Genet. |volume=16 |issue= 3 |pages= 260–4 |year= 1997 |pmid= 9207791 |doi= 10.1038/ng0797-260 }}
*{{cite journal | author=Richelda R, Ronchetti D, Baldini L, ''et al.'' |title=A novel chromosomal translocation t(4; 14)(p16.3; q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene. |journal=Blood |volume=90 |issue= 10 |pages= 4062-70 |year= 1997 |pmid= 9354676 |doi=  }}
*{{cite journal   |vauthors=Richelda R, Ronchetti D, Baldini L, etal |title=A novel chromosomal translocation t(4; 14)(p16.3; q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene. |journal=Blood |volume=90 |issue= 10 |pages= 4062–70 |year= 1997 |pmid= 9354676 |doi=  }}
*{{cite journal | author=Stec I, Wright TJ, van Ommen GJ, ''et al.'' |title=WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. |journal=Hum. Mol. Genet. |volume=7 |issue= 7 |pages= 1071-82 |year= 1999 |pmid= 9618163 |doi=  }}
*{{cite journal   |vauthors=Kikuno R, Nagase T, Ishikawa K, etal |title=Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=6 |issue= 3 |pages= 197–205 |year= 1999 |pmid= 10470851 |doi=10.1093/dnares/6.3.197 }}
*{{cite journal  | author=Chesi M, Nardini E, Lim RS, ''et al.'' |title=The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. |journal=Blood |volume=92 |issue= 9 |pages= 3025-34 |year= 1998 |pmid= 9787135 |doi=  }}
*{{cite journal   |vauthors=Malgeri U, Baldini L, Perfetti V, etal |title=Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts. |journal=Cancer Res. |volume=60 |issue= 15 |pages= 4058–61 |year= 2000 |pmid= 10945609 |doi=  }}
*{{cite journal  | author=Kikuno R, Nagase T, Ishikawa K, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=6 |issue= 3 |pages= 197-205 |year= 1999 |pmid= 10470851 |doi=  }}
*{{cite journal   |vauthors=Garlisi CG, Uss AS, Xiao H, etal |title=A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription. |journal=Am. J. Respir. Cell Mol. Biol. |volume=24 |issue= 1 |pages= 90–98 |year= 2001 |pmid= 11152655 |doi=  10.1165/ajrcmb.24.1.4224}}
*{{cite journal | author=Malgeri U, Baldini L, Perfetti V, ''et al.'' |title=Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts. |journal=Cancer Res. |volume=60 |issue= 15 |pages= 4058-61 |year= 2000 |pmid= 10945609 |doi=  }}
*{{cite journal   |vauthors=Rauch A, Schellmoser S, Kraus C, etal |title=First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. |journal=Am. J. Med. Genet. |volume=99 |issue= 4 |pages= 338–42 |year= 2001 |pmid= 11252005 |doi=10.1002/ajmg.1203 }}
*{{cite journal | author=Garlisi CG, Uss AS, Xiao H, ''et al.'' |title=A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription. |journal=Am. J. Respir. Cell Mol. Biol. |volume=24 |issue= 1 |pages= 90-98 |year= 2001 |pmid= 11152655 |doi=  }}
*{{cite journal   |vauthors=Perfetti V, Coluccia AM, Intini D, etal |title=Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis. |journal=Am. J. Pathol. |volume=158 |issue= 5 |pages= 1599–603 |year= 2001 |pmid= 11337357 |doi= 10.1016/S0002-9440(10)64115-6| pmc=1891955 }}
*{{cite journal | author=Rauch A, Schellmoser S, Kraus C, ''et al.'' |title=First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. |journal=Am. J. Med. Genet. |volume=99 |issue= 4 |pages= 338-42 |year= 2001 |pmid= 11252005 |doi=  }}
*{{cite journal   |vauthors=Santra M, Zhan F, Tian E, etal |title=A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript. |journal=Blood |volume=101 |issue= 6 |pages= 2374–6 |year= 2003 |pmid= 12433679 |doi= 10.1182/blood-2002-09-2801 }}
*{{cite journal | author=Perfetti V, Coluccia AM, Intini D, ''et al.'' |title=Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis. |journal=Am. J. Pathol. |volume=158 |issue= 5 |pages= 1599-603 |year= 2001 |pmid= 11337357 |doi=  }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |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 }}
*{{cite journal | author=Santra M, Zhan F, Tian E, ''et al.'' |title=A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript. |journal=Blood |volume=101 |issue= 6 |pages= 2374-6 |year= 2003 |pmid= 12433679 |doi= 10.1182/blood-2002-09-2801 }}
*{{cite journal   |vauthors=Intini D, Fabris S, Storlazzi T, etal |title=Identification of a novel IGH-MMSET fusion transcript in a human myeloma cell line with the t(4;14)(p16.3;q32) chromosomal translocation. |journal=Br. J. Haematol. |volume=126 |issue= 3 |pages= 437–9 |year= 2004 |pmid= 15257719 |doi= 10.1111/j.1365-2141.2004.05048.x }}
*{{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   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Intini D, Fabris S, Storlazzi T, ''et al.'' |title=Identification of a novel IGH-MMSET fusion transcript in a human myeloma cell line with the t(4;14)(p16.3;q32) chromosomal translocation. |journal=Br. J. Haematol. |volume=126 |issue= 3 |pages= 437-9 |year= 2004 |pmid= 15257719 |doi= 10.1111/j.1365-2141.2004.05048.x }}
*{{cite journal   |vauthors=Keats JJ, Maxwell CA, Taylor BJ, etal |title=Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. |journal=Blood |volume=105 |issue= 10 |pages= 4060–9 |year= 2005 |pmid= 15677557 |doi= 10.1182/blood-2004-09-3704 | pmc=1895072 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Hudlebusch HR, Theilgaard-Mönch K, Lodahl M, etal |title=Identification of ID-1 as a potential target gene of MMSET in multiple myeloma. |journal=Br. J. Haematol. |volume=130 |issue= 5 |pages= 700–8 |year= 2005 |pmid= 16115125 |doi= 10.1111/j.1365-2141.2005.05664.x }}
*{{cite journal | author=Keats JJ, Maxwell CA, Taylor BJ, ''et al.'' |title=Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. |journal=Blood |volume=105 |issue= 10 |pages= 4060-9 |year= 2005 |pmid= 15677557 |doi= 10.1182/blood-2004-09-3704 }}
*{{cite journal | author=Hudlebusch HR, Theilgaard-Mönch K, Lodahl M, ''et al.'' |title=Identification of ID-1 as a potential target gene of MMSET in multiple myeloma. |journal=Br. J. Haematol. |volume=130 |issue= 5 |pages= 700-8 |year= 2005 |pmid= 16115125 |doi= 10.1111/j.1365-2141.2005.05664.x }}
}}
}}
{{refend}}
{{refend}}


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Revision as of 22:39, 17 September 2017

VALUE_ERROR (nil)
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
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Wikidata
View/Edit Human

Probable histone-lysine N-methyltransferase NSD2 is an enzyme that in humans is encoded by the WHSC1 gene.[1][2][3]

This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences.[3]

References

  1. ↑ Stec I, Wright TJ, van Ommen GJ, de Boer PA, van Haeringen A, Moorman AF, Altherr MR, den Dunnen JT (Jan 1999). "WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma". Hum Mol Genet. 7 (7): 1071–82. doi:10.1093/hmg/7.7.1071. PMID 9618163.
  2. ↑ Chesi M, Nardini E, Lim RS, Smith KD, Kuehl WM, Bergsagel PL (Nov 1998). "The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts". Blood. 92 (9): 3025–34. PMID 9787135.
  3. ↑ 3.0 3.1 "Entrez Gene: WHSC1 Wolf-Hirschhorn syndrome candidate 1".

Further reading



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