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

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: mouse all
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Genomic context

Location:: 2p25.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (5692384..5701385)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (5713811..5722812)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (5832516..5841517)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epigenetic activation of SOX11 is associated with recurrence and progression of ductal carcinoma in situ to invasive breast cancer.
Title: Epigenetic activation of SOX11 is associated with recurrence and progression of ductal carcinoma in situ to invasive breast cancer.
SOX11 expression is restricted to EBV-negative Burkitt lymphoma and is associated with molecular genetic features.
Title: SOX11 expression is restricted to EBV-negative Burkitt lymphoma and is associated with molecular genetic features.
SOX11 is a novel binding partner and endogenous inhibitor of SAMHD1 ara-CTPase activity in mantle cell lymphoma.
Title: SOX11 is a novel binding partner and endogenous inhibitor of SAMHD1 ara-CTPase activity in mantle cell lymphoma.
SOX11/PRDX2 axis modulates redox homeostasis and chemoresistance in aggressive mantle cell lymphoma.
Title: SOX11/PRDX2 axis modulates redox homeostasis and chemoresistance in aggressive mantle cell lymphoma.
Impaired communication ability in SOX11 syndrome.
Title: Impaired communication ability in SOX11 syndrome.
SOX11 Is an Effective Discriminatory Marker, When Used in Conjunction With CK20 and TTF1, for Merkel Cell Carcinoma: Comparative Analysis of SOX11, CK20, PAX5, and TTF1 Expression in Merkel Cell Carcinoma and Pulmonary Small Cell Carcinoma.
Title: SOX11 Is an Effective Discriminatory Marker, When Used in Conjunction With CK20 and TTF1, for Merkel Cell Carcinoma: Comparative Analysis of SOX11, CK20, PAX5, and TTF1 Expression in Merkel Cell Carcinoma and Pulmonary Small Cell Carcinoma.
A Positive Loop Formed by SOX11 and Periostin Upregulates TGF-beta Signals Leading to Skin Fibrosis.
Title: A Positive Loop Formed by SOX11 and Periostin Upregulates TGF-β Signals Leading to Skin Fibrosis.
SOX11 regulates SWI/SNF complex components as member of the adrenergic neuroblastoma core regulatory circuitry.
Title: SOX11 regulates SWI/SNF complex components as member of the adrenergic neuroblastoma core regulatory circuitry.
Silencing SOX11 Alleviates Allergic Rhinitis by Inhibiting Epithelial-Derived Cytokines.
Title: Silencing SOX11 Alleviates Allergic Rhinitis by Inhibiting Epithelial-Derived Cytokines.
Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss.
Title: Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss.

Submit: New GeneRIF Correction See all GeneRIFs (123)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 2024-11-21) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-11-21) 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 EBI GWAS CatalogPubMed
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH15937 (e-PCR)
- UniSTS:35

NoName (e-PCR)
- UniSTS:547149

Sox11 (e-PCR), detects polymorphism
- UniSTS:547149

Sox11 (e-PCR), detects polymorphism
- UniSTS:507238

A007J15 (e-PCR)
- UniSTS:60539

RH91652 (e-PCR)
- UniSTS:84364

RH76305 (e-PCR)
- UniSTS:87735

SOX11_863.2 (e-PCR)
- UniSTS:471769

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

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
located_in 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

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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

NG_050751.1 RefSeqGene

Range

4718..13719

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003108.4 → NP_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:48 → 119

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 ...