MSX2

This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008]

Description

msh homeobox 2

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Peptideatlas), Transcription factors

Chromosome

5:q35.2 (174724582 - 174730896)

Ensembl ID

ENSG00000120149  (ver. 99.38)

Orthologs

Mouse Msx2: ENSMUSG00000021469

UniProt

P35548

neXtProt

NX_P35548

Human splice variants
Mouse splice variants