SOX14

Protein identityUniProt · HPA

UniProt accession

O95416

Gene

SOX14

Ensembl

ENSG00000168875

Chromosome

3

Canonical length

240 aa

Protein class

Predicted intracellular proteins, Transcription factors

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. 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]

Canonical amino-acid sequenceUniProt

240 residues, UniProt reviewed canonical sequence.

>O95416|SOX14
     1  MSKPSDHIKR PMNAFMVWSR GQRRKMAQEN PKMHNSEISK RLGAEWKLLS EAEKRPYIDE
    61  AKRLRAQHMK EHPDYKYRPR RKPKNLLKKD RYVFPLPYLG DTDPLKAAGL PVGASDGLLS
   121  APEKARAFLP PASAPYSLLD PAQFSSSAIQ KMGEVPHTLA TGALPYASTL GYQNGAFGSL
   181  SCPSQHTHTH PSPTNPGYVV PCNCTAWSAS TLQPPVAYIL FPGMTKTGID PYSSAHATAM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOX14 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)

0.62

Highest tissue expression

1.7 nTPM

Expression across tissuesHPA

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)

0.47

gnomAD pLI

0.86

gnomAD missense Z

1.14

DepMap mean gene effect

0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• brain development
• entrainment of circadian clock
• negative regulation of DNA-templated transcription
• negative regulation of transcription by RNA polymerase II
• nervous system development
• neuron differentiation
• positive regulation of transcription by RNA polymerase II
• regulation of neuron migration
• visual perception

Molecular functions

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

Cellular components

• chromatin
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

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

KeywordsUniProt

• DNA-binding
• Nucleus
• Repressor
• Transcription
• Transcription regulation