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    SOX3 SRY-box transcription factor 3 [ Homo sapiens (human) ]

    Gene ID: 6658, updated on 16-Jul-2024

    Summary

    Official Symbol
    SOX3provided by HGNC
    Official Full Name
    SRY-box transcription factor 3provided by HGNC
    Primary source
    HGNC:HGNC:11199
    See related
    Ensembl:ENSG00000134595 MIM:313430; AllianceGenome:HGNC:11199
    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
    Also known as
    PHP; GHDX; MRGH; PHPX; SOXB
    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 regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked cognitive disability with growth hormone deficiency. [provided by RefSeq, Jul 2008]
    Orthologs
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    Genomic context

    See SOX3 in Genome Data Viewer
    Location:
    Xq27.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (140502985..140505069, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (138814872..138816956, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (139585150..139587234, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene U7 small nuclear RNA Neighboring gene ribosomal protein S17 pseudogene 17 Neighboring gene SOX3 promoter region Neighboring gene uncharacterized LOC105373344 Neighboring gene NANOG hESC enhancer GRCh37_chrX:139608152-139608653 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:139655621-139655814 Neighboring gene uncharacterized LOC101928833

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual disability, X-linked, with panhypopituitarism
    MedGen: C2678223 OMIM: 300123 GeneReviews: Not available
    Compare labs
    Panhypopituitarism, X-linked
    MedGen: C0342376 OMIM: 312000 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    Some evidence for dosage pathogenicity (Last evaluated 2023-01-10)

    ClinGen Genome Curation PagePubMed
    Haploinsufficency

    No evidence available (Last evaluated 2023-01-10)

    ClinGen Genome Curation Page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in face development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hypothalamus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in pituitary gland development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sensory organ development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sex determination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    transcription factor SOX-3
    Names
    SRY (sex determining region Y)-box 3
    SRY-box 3

    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_009387.1 RefSeqGene

      Range
      4992..7076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005634.3NP_005625.2  transcription factor SOX-3

      See identical proteins and their annotated locations for NP_005625.2

      Status: REVIEWED

      Source sequence(s)
      AL121875
      Consensus CDS
      CCDS14669.1
      UniProtKB/Swiss-Prot
      P35714, P41225, Q5JWI3, Q9NP49
      Related
      ENSP00000359567.2, ENST00000370536.5
      Conserved Domains (2) summary
      cd01388
      Location:138209
      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 ...
      pfam12336
      Location:208302
      SOXp; SOX transcription factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      140502985..140505069 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      138814872..138816956 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)