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

Gene ID: 6664, updated on 2-Aug-2021

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
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
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
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Genomic context

See SOX11 in Genome Data Viewer
Location:
2p25.2
Exon count:
1
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (5692384..5701385)
105.20201022 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 uncharacterized LOC112268411 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
A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
GeneReviews: Not available
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
GeneReviews: Not available
Mental retardation, autosomal dominant 27
MedGen: C4014528 OMIM: 615866 GeneReviews: Not available
Compare labs
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cardiac ventricle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 development 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 limb bud formation 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 cell death 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
PubMed 
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 neural crest cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neural tube formation 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
PubMed 
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 cell population proliferation 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
PubMed 
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 positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
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 skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in soft palate development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in somite 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
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
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)

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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_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
    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: 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_000002.12 Reference GRCh38.p13 Primary Assembly

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