SOX14

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]

Description

SRY-box transcription factor 14

Tissue specificity

Tissue enriched (brain)

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Transcription factors

Chromosome

3 (137764315 - 137766334)

Ensembl ID

ENSG00000168875  (ver. 103.38)

Orthologs

Mouse Sox14: ENSMUSG00000053747

UniProt

O95416

neXtProt

NX_O95416

Human splice variants
Mouse splice variants

Protein structure