SOX8
Transcription factor SOX-8
Also known as: SOX8_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P57073
- Gene
- SOX8
- Ensembl
- ENSG00000005513
- Chromosome
- 16
- Canonical length
- 446 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This 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 activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the cognitive disability found in an alpha-thalassemia-related syndrome (ART-16). This protein is also highly expressed in the majority of human hepatocellular carcinomas and promotes cellular proliferation and enhanced tumor growth. [provided by RefSeq, Jul 2017]
Canonical amino-acid sequenceUniProt
446 residues, UniProt reviewed canonical sequence.
>P57073|SOX8
1 MLDMSEARSQ PPCSPSGTAS SMSHVEDSDS DAPPSPAGSE GLGRAGVAVG GARGDPAEAA
61 DERFPACIRD AVSQVLKGYD WSLVPMPVRG GGGGALKAKP HVKRPMNAFM VWAQAARRKL
121 ADQYPHLHNA ELSKTLGKLW RLLSESEKRP FVEEAERLRV QHKKDHPDYK YQPRRRKSAK
181 AGHSDSDSGA ELGPHPGGGA VYKAEAGLGD GHHHGDHTGQ THGPPTPPTT PKTELQQAGA
241 KPELKLEGRR PVDSGRQNID FSNVDISELS SEVMGTMDAF DVHEFDQYLP LGGPAPPEPG
301 QAYGGAYFHA GASPVWAHKS APSASASPTE TGPPRPHIKT EQPSPGHYGD QPRGSPDYGS
361 CSGQSSATPA APAGPFAGSQ GDYGDLQASS YYGAYPGYAP GLYQYPCFHS PRRPYASPLL
421 NGLALPPAHS PTSHWDQPVY TTLTRPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SOX8 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)
- 0.64
- Highest tissue expression
- 93 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 93 nTPM
- midbrain: 76 nTPM
- hippocampal formation: 72 nTPM
- basal ganglia: 63 nTPM
- amygdala: 58 nTPM
- cerebral cortex: 58 nTPM
Single-cell type
- oligodendrocyte progenitor cells: 162 nCPM
- müller glia: 157 nCPM
- oligodendrocytes: 112 nCPM
- schwann cells: 28 nCPM
- bergmann glia: 19 nCPM
- myosatellite cells: 18 nCPM
Immune cell
- naive CD4 T-cell: 0.3 nTPM
- naive CD8 T-cell: 0.2 nTPM
- memory CD4 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
Brain region
- white matter: 217 nTPM
- basal ganglia: 147 nTPM
- midbrain: 125 nTPM
- medulla oblongata: 114 nTPM
- cerebral cortex: 113 nTPM
- thalamus: 106 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SOX8.
Disease | ImmuneIEDB
Conditions an epitope on SOX8 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)
- 0.51
- gnomAD pLI
- 0.67
- gnomAD missense Z
- 0.89
- DepMap mean gene effect
- 0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adipose tissue development
- astrocyte fate commitment
- cell fate commitment
- cell maturation
- enteric nervous system development
- fat cell differentiation
- in utero embryonic development
- male gonad development
- metanephric nephron tubule formation
- morphogenesis of a branching epithelium
- morphogenesis of an epithelium
- negative regulation of apoptotic process
- negative regulation of DNA-templated transcription
- negative regulation of myoblast differentiation
- negative regulation of photoreceptor cell differentiation
- negative regulation of transcription by RNA polymerase II
- neural crest cell development
- neural crest cell migration
- oligodendrocyte differentiation
- osteoblast differentiation
- peripheral nervous system development
- positive regulation of branching involved in ureteric bud morphogenesis
- positive regulation of DNA-templated transcription
- positive regulation of gene expression
- positive regulation of gliogenesis
- positive regulation of kidney development
- positive regulation of osteoblast proliferation
- positive regulation of transcription by RNA polymerase II
- regulation of hormone levels
- renal vesicle induction
- retina development in camera-type eye
- retinal rod cell differentiation
- Sertoli cell development
- signal transduction
- skeletal muscle cell differentiation
- spermatogenesis
- ureter morphogenesis
Molecular functions
- DNA binding
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription factor binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SOX8 as an antibody target. Whether an autoantibody or antibody against SOX8 could matter depends on whether native SOX8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SOX8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SOX8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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