Symbol: Name: ID: |
WHSC1 Wolf-Hirschhorn syndrome candidate 1 GFS:2526 |
Gene name: | WHSC1 |
Chromosome: | 4p16.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | MMSET, NSD2 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1276574 | Rat Genome Database ID: | RGD:1307955 |
HGNC ID: | HGNC:12766 | RefSeq IDs: | NM_001042424 |
Entrez Gene ID: | 7468 | Ensembl Gene ID: | ENSG00000109685 |
VEGA IDs: | OTTHUMG00000121147 | UniProt ID: | O96028 |
UCSC ID: | uc003gdz.3 | OMIM ID: | 602952 |
Pubmed: | PMID9618163 PMID 9787135 | ||
CCDS IDs: | CCDSCCDS3356.1 CCDS CCDS33940.1 CCDS CCDS46999.1 |
Probable histone-lysine N-methyltransferase NSD2 is an enzyme that in humans is encoded by the WHSC1 gene.
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. [provided by RefSeq].
Function: Probable histone methyltransferase (By similarity). May act as a transcription regulator that binds DNA and suppresses IL5 transcription.
Products for WHSC1 gene
Catalog | Product Name | Application | Company |
GFS:E02526 | Wolf-Hirschhorn syndrome candidate 1; ELISA kit | ELISA | n/a |
GFS:A02526 | Wolf-Hirschhorn syndrome candidate 1; Anti | ANTIBODIES | n/a |
GFS:P02526 | Wolf-Hirschhorn syndrome candidate 1; Protien | Protien | n/a |