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

Gene ID: 6664, updated on 3-Sep-2017
Official Symbol
SOX11provided by HGNC
Official Full Name
SRY-box 11provided by HGNC
Primary source
HGNC:HGNC:11191
See related
Ensembl:ENSG00000176887 MIM:600898; Vega:OTTHUMG00000090333
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
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
Location:
2p25.2
Exon count:
1
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (5692667..5701385)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (5832799..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 long intergenic non-protein coding RNA 1810 Neighboring gene long intergenic non-protein coding RNA 1105 Neighboring gene microRNA 7158

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Mental retardation, autosomal dominant 27
MedGen: C4014528 OMIM: 615866 GeneReviews: Not available
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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

NHGRI GWAS Catalog

Description
A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.
NHGRI GWA Catalog
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • Preimplantation Embryo, organism-specific biosystem (from WikiPathways)
    Preimplantation Embryo, organism-specific biosystemThe source of this pathway is RNA-Seq data from single-cell pre-implantation embryos (Supplemental Table 1): http://www.nature.com/nsmb/journal/v20/n9/full/nsmb.2660.html Analysis options for runnin...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cardiac ventricle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
closure of optic fissure ISS
Inferred from Sequence or Structural Similarity
more info
 
cornea development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic digestive tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic skeletal system morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
eyelid development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
glial cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
glial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
hard palate development ISS
Inferred from Sequence or Structural Similarity
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
lens morphogenesis in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
limb bud formation ISS
Inferred from Sequence or Structural Similarity
more info
 
lung morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell death ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of glial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of lymphocyte proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription regulatory region DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
neural crest cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
neural tube formation ISS
Inferred from Sequence or Structural Similarity
more info
 
neuroepithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
noradrenergic neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
oligodendrocyte development IEA
Inferred from Electronic Annotation
more info
 
outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of hippo signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of hormone secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of lens epithelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ossification IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transforming growth factor beta receptor signaling pathway IEP
Inferred from Expression Pattern
more info
PubMed 
signal transduction involved in cell cycle checkpoint IEP
Inferred from Expression Pattern
more info
PubMed 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
soft palate development ISS
Inferred from Sequence or Structural Similarity
more info
 
somite development ISS
Inferred from Sequence or Structural Similarity
more info
 
spinal cord development ISS
Inferred from Sequence or Structural Similarity
more info
 
sympathetic nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
translation IEA
Inferred from Electronic Annotation
more info
 
ventricular septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
transcription factor SOX-11
Names
SRY (sex-determining region Y)-box 11
SRY-related HMG-box gene 11

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
    5001..13719
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003108.3NP_003099.1  transcription factor SOX-11

    See identical proteins and their annotated locations for NP_003099.1

    Status: REVIEWED

    Source sequence(s)
    AB028641
    Consensus CDS
    CCDS1654.1
    UniProtKB/Swiss-Prot
    P35716
    Related
    ENSP00000322568.3, OTTHUMP00000115385, ENST00000322002.4, OTTHUMT00000206698
    Conserved Domains (1) summary
    cd01388
    Location:48119
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

    Range
    5692667..5701385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    5762093..5770810
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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