WHSC1
Wolf-Hirschhorn syndrome candidate 1
Synonyms:
MMSET, NSD2, REIIBP, TRX5, WHS
Species:
Human WHSC1 (7468), Mouse Whsc1 (107823), Rat Whsc1 (680537), Horse WHSC1 (100051090), domestic guinea pig Whsc1 (100713660), cow WHSC1 (540769), domestic cat WHSC1 (101083169), naked mole-rat Whsc1 (101709487), chicken WHSC1 (422897), dog WHSC1 (479077) ...More
UniProtKB ID:
Gene ID:
- Human(7468) Summary: 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, Jul 2008]
- Mouse(107823) Wolf-Hirschhorn syndrome candidate 1 (human)
- Rat(680537) Wolf-Hirschhorn syndrome candidate 1
- Horse(100051090) Wolf-Hirschhorn syndrome candidate 1
- domestic guinea pig(100713660) Wolf-Hirschhorn syndrome candidate 1
- cow(540769) Wolf-Hirschhorn syndrome candidate 1
- domestic cat(101083169) Wolf-Hirschhorn syndrome candidate 1
- naked mole-rat(101709487) Wolf-Hirschhorn syndrome candidate 1
- chicken(422897) Wolf-Hirschhorn syndrome candidate 1
- dog(479077) Wolf-Hirschhorn syndrome candidate 1
- Zebrafish(100000709) Wolf-Hirschhorn syndrome candidate 1
- sheep(101103648) Wolf-Hirschhorn syndrome candidate 1
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