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SOX8 SRY-box transcription factor 8 [ Homo sapiens (human) ]

Gene ID: 30812, updated on 11-Jun-2021

Summary

Official Symbol
SOX8provided by HGNC
Official Full Name
SRY-box transcription factor 8provided by HGNC
Primary source
HGNC:HGNC:11203
See related
Ensembl:ENSG00000005513 MIM:605923
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Biased expression in brain (RPKM 44.7) and salivary gland (RPKM 3.1) See more
Orthologs
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Genomic context

See SOX8 in Genome Data Viewer
Location:
16p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (981770..986979)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1031770..1036979)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene lipase maturation factor 1 Neighboring gene LMF1 antisense RNA 1 Neighboring gene uncharacterized LOC107984898 Neighboring gene cytoplasmic endogenous regulator of oxidative phosphorylation 1 Neighboring gene SSTR5 antisense RNA 1 Neighboring gene somatostatin receptor 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-02-22)

ClinGen Genome Curation Page
Haploinsufficency

No evidence available (Last evaluated 2012-02-22)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC24837

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Sertoli cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in adipose tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in astrocyte fate commitment IEA
Inferred from Electronic Annotation
more info
 
involved_in cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell maturation IEA
Inferred from Electronic Annotation
more info
 
involved_in enteric nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in enteric nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in male gonad development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in metanephric nephron tubule formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in morphogenesis of a branching epithelium ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in morphogenesis of an epithelium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of photoreceptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neural crest cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neural crest cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in peripheral nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in peripheral nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of branching involved in ureteric bud morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gliogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of osteoblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of hormone levels ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in renal vesicle induction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in retina development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in retinal rod cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ureter morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IC
Inferred by Curator
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transcription factor SOX-8
Names
SRY (sex determining region Y)-box 8
SRY-box 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009933.2 RefSeqGene

    Range
    4963..10172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014587.5NP_055402.2  transcription factor SOX-8

    See identical proteins and their annotated locations for NP_055402.2

    Status: REVIEWED

    Source sequence(s)
    AC009041, BC031797, KF456143
    Consensus CDS
    CCDS10428.1
    UniProtKB/Swiss-Prot
    P57073
    Related
    ENSP00000293894.3, ENST00000293894.4
    Conserved Domains (2) summary
    cd01388
    Location:101171
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam12444
    Location:1889
    Sox_N; Sox developmental protein N terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    981770..986979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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