SOX4

Transcription factor SOX-4 is a protein that in humans is encoded by the SOX4 gene.^[5][6][7]

SOX4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3U2B
Identifiers
Aliases	SOX4, EVI16, SRY-box 4, SRY-box transcription factor 4, CSS10
External IDs	OMIM: 184430; MGI: 98366; HomoloGene: 2338; GeneCards: SOX4; OMA:SOX4 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p22.3 Start 21,593,751 bp[1] End 21,598,619 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 A3.1|13 12.87 cM Start 29,132,902 bp[2] End 29,137,696 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone tendon of biceps brachii corpus epididymis beta cell visceral pleura lactiferous duct caput epididymis tibia thymus Top expressed in medial ganglionic eminence Rostral migratory stream vas deferens human fetus Gonadal ridge abdominal wall mandibular prominence maxillary prominence superior cervical ganglion left lung lobe More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding transcription coactivator activity DNA-binding transcription activator activity, RNA polymerase II-specific transcription cis-regulatory region binding core promoter sequence-specific DNA binding protein binding protein heterodimerization activity DNA-binding transcription factor activity DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding Cellular component cytoplasm nucleoplasm mitochondrion nucleus Biological process skeletal system development noradrenergic neuron differentiation DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest cardiac ventricle formation glial cell development regulation of transcription, DNA-templated limb bud formation regulation of protein stability sympathetic nervous system development somatic stem cell population maintenance glucose homeostasis positive regulation of canonical Wnt signaling pathway ventricular septum morphogenesis protein stabilization ascending aorta morphogenesis negative regulation of cell death mitral valve morphogenesis positive regulation of translation transcription, DNA-templated neuroepithelial cell differentiation positive regulation of transcription, DNA-templated positive regulation of Wnt signaling pathway negative regulation of protein ubiquitination heart development pro-B cell differentiation atrial septum primum morphogenesis T cell differentiation kidney morphogenesis positive regulation of cell population proliferation spinal cord development positive regulation of apoptotic process glial cell proliferation canonical Wnt signaling pathway positive regulation of N-terminal peptidyl-lysine acetylation spinal cord motor neuron differentiation cardiac right ventricle morphogenesis neural tube formation cellular response to glucose stimulus endocrine pancreas development negative regulation of cell population proliferation positive regulation of insulin secretion positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6659 20677 Ensembl ENSG00000124766 ENSMUSG00000076431 UniProt Q06945 Q06831 RefSeq (mRNA) NM_003107 NM_009238 RefSeq (protein) NP_003098 NP_033264 Location (UCSC) Chr 6: 21.59 – 21.6 Mb Chr 13: 29.13 – 29.14 Mb PubMed search [3] [4]
Wikidata
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Function

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, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein.^[7]

Sox4 is expressed in lymphocytes (B and T) and is required for B lymphocyte development.^[8]

Clinical significance

A genomic region close to the SOX4 gene has been associated with endometrial cancer development.^[9][10]

Interactions

SOX4 has been shown to interact with SDCBP.^[11]

See also

• SOX gene family