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    SOX11 SRY-box transcription factor 11 [ Homo sapiens (human) ]

    Gene ID: 6664, updated on 23-Nov-2023

    Summary

    Official Symbol
    SOX11provided by HGNC
    Official Full Name
    SRY-box transcription factor 11provided by HGNC
    Primary source
    HGNC:HGNC:11191
    See related
    Ensembl:ENSG00000176887 MIM:600898; AllianceGenome:HGNC:11191
    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
    CSS9; MRD27; IDDMOH
    Summary
    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. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]
    Orthologs
    NEW
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    Genomic context

    See SOX11 in Genome Data Viewer
    Location:
    2p25.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (5692384..5701385)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (5713811..5722812)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (5832516..5841517)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985843 Neighboring gene long intergenic non-protein coding RNA 1248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:5795791-5796292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:5796293-5796792 Neighboring gene uncharacterized LOC124908052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11118 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11119 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:5865940-5866895 Neighboring gene uncharacterized LOC112268411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:5881029-5881529 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:5937560-5938759 Neighboring gene long intergenic non-protein coding RNA 1810

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual disability, autosomal dominant 27
    MedGen: C4014528 OMIM: 615866 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2017-03-15)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2017-03-15)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
    EBI GWAS Catalog
    Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    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 camera-type eye morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in closure of optic fissure ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cornea development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic digestive tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic skeletal system morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in eyelid development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in hard palate development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lens morphogenesis in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lung morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of glial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of lymphocyte proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription regulatory region DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuroepithelial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in noradrenergic neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in oligodendrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of BMP signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of hippo signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of hormone secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of lens epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of stem cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    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 by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of transforming growth factor beta receptor signaling pathway IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in soft palate development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spinal cord development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sympathetic nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    transcription factor SOX-11
    Names
    SRY (sex-determining region Y)-box 11
    SRY-box 11
    SRY-related HMG-box gene 11

    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_050751.1 RefSeqGene

      Range
      4718..13719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003108.4NP_003099.1  transcription factor SOX-11

      See identical proteins and their annotated locations for NP_003099.1

      Status: REVIEWED

      Source sequence(s)
      AC108025
      Consensus CDS
      CCDS1654.1
      UniProtKB/Swiss-Prot
      P35716, Q4ZFV8
      Related
      ENSP00000322568.3, ENST00000322002.5
      Conserved Domains (1) summary
      cd01388
      Location:48119
      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 vertebrates, and ...

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      5692384..5701385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      5713811..5722812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)