WHSC1 Products

Description

WHSC1 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]

Bioinformatics

Entrez	7468 Human
Uniprot	NP_015627 Human NP_579877.1 Human NP_579889.1 Human O96028 Human
Product By Gene ID	7468
Alternate Names	EC 2.1.1.43 FLJ23286 IL5 promoter REII region-binding protein KIAA1090 MGC176638 MMSETNSD2Multiple myeloma SET domain-containing protein multiple myeloma SET domain containing protein type III nuclear receptor binding SET domain protein 2 Nuclear SET domain-containing protein 2 probable histone-lysine N-methyltransferase NSD2 Protein trithorax-5 REIIBP trithorax/ash1-related protein 5 TRX5 WHS Wolf-Hirschhorn syndrome candidate 1 protein Wolf-Hirschhorn syndrome candidate 1