SOX4

Protein identityUniProt · HPA

UniProt accession

Q06945

Gene

SOX4

Ensembl

ENSG00000124766

Chromosome

6

Canonical length

474 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Mitochondria

OverviewNCBI Gene

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. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

474 residues, UniProt reviewed canonical sequence.

>Q06945|SOX4
     1  MVQQTNNAEN TEALLAGESS DSGAGLELGI ASSPTPGSTA STGGKADDPS WCKTPSGHIK
    61  RPMNAFMVWS QIERRKIMEQ SPDMHNAEIS KRLGKRWKLL KDSDKIPFIR EAERLRLKHM
   121  ADYPDYKYRP RKKVKSGNAN SSSSAAASSK PGEKGDKVGG SGGGGHGGGG GGGSSNAGGG
   181  GGGASGGGAN SKPAQKKSCG SKVAGGAGGG VSKPHAKLIL AGGGGGGKAA AAAAASFAAE
   241  QAGAAALLPL GAAADHHSLY KARTPSASAS ASSAASASAA LAAPGKHLAE KKVKRVYLFG
   301  GLGTSSSPVG GVGAGADPSD PLGLYEEEGA GCSPDAPSLS GRSSAASSPA AGRSPADHRG
   361  YASLRAASPA PSSAPSHASS SASSHSSSSS SSGSSSSDDE FEDDLLDLNP SSNFESMSLG
   421  SFSSSSALDR DLDFNFEPGS GSHFEFPDYC TPEVSEMISG DWLESSISNL VFTY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOX4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.66

Highest tissue expression

68 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOX4.

Disease | AllUniProt

Conditions SOX4 is implicated in, by any mechanism.

• Intellectual developmental disorder with speech delay and dysmorphic facies (IDDSDF) MIM:618506

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 273 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Coffin-Siris syndrome 10
• Developmental delay
• Intellectual disability
• Mild facial and digital morphological abnormalities
• SOX4-related disorder

Disease | ImmuneIEDB

Conditions an epitope on SOX4 was assayed in.

• narcolepsy B cell
• multiple sclerosis B cell
• peripheral nervous system disease B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.36

gnomAD pLI

0.93

gnomAD missense Z

1.17

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• ascending aorta morphogenesis
• atrial septum primum morphogenesis
• brain development
• camera-type eye morphogenesis
• cardiac right ventricle morphogenesis
• cellular response to glucose stimulus
• endocrine pancreas development
• gene expression
• glial cell development
• glial cell proliferation
• glucose homeostasis
• heart development
• hematopoietic stem cell homeostasis
• kidney morphogenesis
• mesenchyme development
• mitral valve morphogenesis
• negative regulation of myoblast differentiation
• negative regulation of transcription by RNA polymerase II
• nervous system development
• neuroepithelial cell differentiation
• neuron differentiation
• noradrenergic neuron differentiation
• positive regulation of apoptotic process
• positive regulation of canonical Wnt signaling pathway
• positive regulation of cell population proliferation
• positive regulation of DNA-templated transcription
• positive regulation of gamma-delta T cell differentiation
• positive regulation of insulin secretion
• positive regulation of myoblast differentiation
• positive regulation of transcription by RNA polymerase II
• pro-B cell differentiation
• protein stabilization
• regulation of DNA damage response, signal transduction by p53 class mediator
• regulation of DNA-templated transcription
• somatic stem cell population maintenance
• spinal cord development
• sympathetic nervous system development
• T cell differentiation
• ventricular septum morphogenesis

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• miRNA binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• transcription cis-regulatory region binding

Cellular components

• chromatin
• cytoplasm
• mitochondrion
• nucleoplasm
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• High mobility group box domain
• Transcription factor SOX-12/11/4
• High mobility group box domain superfamily
• SRY-related HMG-box transcription factor-like
• HMG (high mobility group) box

KeywordsUniProt

• Acetylation
• Activator
• DNA-binding
• Intellectual disability
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of SOX4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HDAC1
• UBE2I
• TP53