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

    Gene ID: 30812, updated on 17-Oct-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)

    NEW Try the new Transcript table

    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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