SOX9 SRY-box transcription factor 9 [ Homo sapiens (human) ]

Gene ID: 6662, updated on 11-Jun-2025

Summary

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Official Symbol: SOX9provided by HGNC
Official Full Name: SRY-box transcription factor 9provided by HGNC
Primary source: HGNC:HGNC:11204
See related: Ensembl:ENSG00000125398 MIM:608160; AllianceGenome:HGNC:11204
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: TES; CMD1; SRA1; CMPD1; ENH13; SRXX2; TESCO; SRXY10
Summary: The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
Expression: Broad expression in testis (RPKM 26.5), brain (RPKM 25.2) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

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See SOX9 in Genome Data Viewer

Location:: 17q24.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (72121020..72126416)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (72994224..72999619)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (70117161..70122557)

Chromosome 17 - NC_000017.11 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

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SOX9 Promotes Collagen VI Secretion by Upregulating PCOLCE in Neurofibroma.
Title: SOX9 Promotes Collagen VI Secretion by Upregulating PCOLCE in Neurofibroma.
SOX9 immunosuppression in primary colorectal cancer tumors with lymph node metastasis.
Title: SOX9 immunosuppression in primary colorectal cancer tumors with lymph node metastasis.
LT and SOX9 expression are associated with gene sets that distinguish Merkel cell polyomavirus (MCPyV)-positive and MCPyV-negative Merkel cell carcinoma.
Title: LT and SOX9 expression are associated with gene sets that distinguish Merkel cell polyomavirus (MCPyV)-positive and MCPyV-negative Merkel cell carcinoma.
SOX9 switch links regeneration to fibrosis at the single-cell level in mammalian kidneys.
Title: SOX9 switch links regeneration to fibrosis at the single-cell level in mammalian kidneys.
SOX9 is regulated by AURKA in response to Helicobacter pylori infection via EIF4E-mediated cap-dependent translation.
Title: SOX9 is regulated by AURKA in response to Helicobacter pylori infection via EIF4E-mediated cap-dependent translation.
E3 ubiquitin ligase BCA2 promotes breast cancer stemness by up-regulation of SOX9 by LPS.
Title: E3 ubiquitin ligase BCA2 promotes breast cancer stemness by up-regulation of SOX9 by LPS.
[Research progress of SOX9 in the evolution of prostate cancer].
Title: [Research progress of SOX9 in the evolution of prostate cancer].
SOX9 promotes stemness in the CAL27 cell line of tongue squamous cell carcinoma.
Title: SOX9 promotes stemness in the CAL27 cell line of tongue squamous cell carcinoma.
Sox9 downregulation in non-obstructive azoospermia by UTF1 and mediator role of POU5F1.
Title: Sox9 downregulation in non-obstructive azoospermia by UTF1 and mediator role of POU5F1.
SOX9 Induces Orbital Fibroblast Activation in Thyroid Eye Disease Via MAPK/ERK1/2 Pathway.
Title: SOX9 Induces Orbital Fibroblast Activation in Thyroid Eye Disease Via MAPK/ERK1/2 Pathway.

Submit: New GeneRIF Correction See all GeneRIFs (488)

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
46,XX sex reversal 2 MedGen: C2749215 OMIM: 278850 GeneReviews: Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development	Compare labs
46,XY sex reversal 10 MedGen: C4225331 OMIM: 616425 GeneReviews: Not available	Compare labs
Camptomelic dysplasia MedGen: C1861922 OMIM: 114290 GeneReviews: Campomelic Dysplasia	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-05-10) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-05-10) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of coronary artery calcification among African Americans, a meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of lung function decline in adults with and without asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3. 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

SHGC-35378 (e-PCR)
- UniSTS:46085

PMC34415P1 (e-PCR)
- UniSTS:273201

Sox9 (e-PCR), detects polymorphism
- UniSTS:516415

PMC351321P1 (e-PCR)
- UniSTS:273242

PMC123659P4 (e-PCR)
- UniSTS:270452

SOX9 (e-PCR)
- UniSTS:254072

GDB:580585 (e-PCR)
- UniSTS:157834

Sox9 (e-PCR), detects polymorphism
- UniSTS:502689

RH91806 (e-PCR)
- UniSTS:91811

RH79827 (e-PCR)
- UniSTS:86458

MARC_71570-71571:1249593890:3 (e-PCR)
- UniSTS:528379

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation 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 RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables bHLH transcription factor binding	IEA Inferred from Electronic Annotation more info
enables beta-catenin binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables pre-mRNA intronic binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A catalytic subunit binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables transcription cis-regulatory region binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within Harderian gland development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within Notch signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within Sertoli cell development	IEA Inferred from Electronic Annotation more info
involved_in Sertoli cell development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within Sertoli cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in Sertoli cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within anterior head development	IEA Inferred from Electronic Annotation more info
involved_in aortic valve morphogenesis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within astrocyte fate commitment	IEA Inferred from Electronic Annotation more info
acts_upstream_of bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in branching involved in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within bronchus cartilage development	IEA Inferred from Electronic Annotation more info
acts_upstream_of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cartilage condensation	IEA Inferred from Electronic Annotation more info
involved_in cartilage condensation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of cartilage development	IEA Inferred from Electronic Annotation more info
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in cartilage development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in cell fate specification	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of cell population proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of cell proliferation involved in heart morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to BMP stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to epidermal growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to epidermal growth factor stimulus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cellular response to heparin	IEA Inferred from Electronic Annotation more info
involved_in cellular response to heparin	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cellular response to interleukin-1	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to mechanical stimulus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in cellular response to retinoic acid	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to transforming growth factor beta stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chondrocyte development	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in chondrocyte differentiation involved in endochondral bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chondrocyte hypertrophy	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte hypertrophy	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cochlea morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cochlea morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cytoskeleton organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endocardial cushion morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in endocardial cushion morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within endochondral bone morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endocrine pancreas development	IEA Inferred from Electronic Annotation more info
involved_in epidermal growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in epidermal growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within epithelial cell proliferation involved in prostatic bud elongation	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell proliferation involved in prostatic bud elongation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within epithelial to mesenchymal transition	IEA Inferred from Electronic Annotation more info
involved_in epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within epithelial tube branching involved in lung morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of extracellular matrix assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
acts_upstream_of glandular epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within glial cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in growth plate cartilage chondrocyte growth	IEA Inferred from Electronic Annotation more info
involved_in growth plate cartilage chondrocyte growth	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within hair follicle development	IEA Inferred from Electronic Annotation more info
involved_in hair follicle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart development	IEA Inferred from Electronic Annotation more info
involved_in heart valve development	IEA Inferred from Electronic Annotation more info
involved_in heart valve development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within heart valve formation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within heart valve morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in heart valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within homeostasis of number of cells within a tissue	IEA Inferred from Electronic Annotation more info
acts_upstream_of intestinal epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intestinal epithelial structure maintenance	IEA Inferred from Electronic Annotation more info
involved_in intestinal epithelial structure maintenance	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within intrahepatic bile duct development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lacrimal gland development	IEA Inferred from Electronic Annotation more info
involved_in limb bud formation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lung epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lung smooth muscle development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within male germ-line sex determination	IEA Inferred from Electronic Annotation more info
involved_in male germ-line sex determination	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within male gonad development	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEP Inferred from Expression Pattern more info	PubMed
involved_in male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male sex determination	IEA Inferred from Electronic Annotation more info
involved_in mammary gland development	IEA Inferred from Electronic Annotation more info
acts_upstream_of mesenchymal cell apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within metanephric nephron tubule formation	IEA Inferred from Electronic Annotation more info
involved_in metanephric nephron tubule formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in metanephric tubule development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within morphogenesis of a branching epithelium	IEA Inferred from Electronic Annotation more info
involved_in morphogenesis of a branching epithelium	ISS Inferred from Sequence or Structural Similarity more info
involved_in morphogenesis of an epithelium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of beta-catenin-TCF complex assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of biomineral tissue development	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of biomineral tissue development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of biomineral tissue development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of bone mineralization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of fatty acid oxidation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fatty acid oxidation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of immune system process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of immune system process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of mesenchymal cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of miRNA transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of myoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of myoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of ossification	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ossification	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ossification	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of photoreceptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of photoreceptor cell 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 negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural crest cell development	IEA Inferred from Electronic Annotation more info
involved_in neural crest cell fate specification	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within neuron fate specification	IEA Inferred from Electronic Annotation more info
involved_in notochord development	IEA Inferred from Electronic Annotation more info
involved_in nucleosome assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in oligodendrocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in otic vesicle development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within otic vesicle formation	IEA Inferred from Electronic Annotation more info
involved_in otic vesicle formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of branching involved in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of branching involved in ureteric bud morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cartilage development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cartilage development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cell proliferation involved in heart morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of chondrocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of chondrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of chondrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of chondrocyte proliferation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of epithelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell proliferation	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of epithelial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of extracellular matrix assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of kidney development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of kidney development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of male gonad development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mesenchymal cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of mesenchymal stem cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of protein catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in prostate gland development	IEA Inferred from Electronic Annotation more info
involved_in prostate gland development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within prostate gland morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein localization to nucleus	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of branching involved in lung morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of cell proliferation involved in tissue homeostasis	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell proliferation involved in tissue homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of epithelial cell proliferation involved in lung morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of gene expression	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in renal vesicle induction	IEA Inferred from Electronic Annotation more info
involved_in renal vesicle induction	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to fatty acid	IEA Inferred from Electronic Annotation more info
involved_in response to fatty acid	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within retina development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in retina development in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of retinal rod cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in retinal rod cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somatic stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in somatic stem cell population maintenance	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within spermatogenesis	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in tissue homeostasis	IEA Inferred from Electronic Annotation more info
involved_in tissue homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within trachea cartilage development	IEA Inferred from Electronic Annotation more info
acts_upstream_of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
acts_upstream_of type I pneumocyte differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within ureter development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within ureter morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within ureter smooth muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in ureter urothelium development	IEA Inferred from Electronic Annotation 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 nucleoplasm	TAS Traceable Author Statement 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 nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transcription factor SOX-9

Names: SRY (sex determining region Y)-box9; SRY (sex-determining region Y)-box 9 protein; SRY-box 9; SRY-related HMG-box, gene 9

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_012490.1 RefSeqGene

Range

5001..10397

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000346.4 → NP_000337.1 transcription factor SOX-9

See identical proteins and their annotated locations for NP_000337.1

Status: REVIEWED

Source sequence(s)

AC007461, BC007951, BC018276, Z46629

Consensus CDS

CCDS11689.1

UniProtKB/Swiss-Prot

P48436, Q53Y80

UniProtKB/TrEMBL

B4DI77

Related

ENSP00000245479.2, ENST00000245479.3

Conserved Domains (2) summary

cd01388
Location:104 → 174

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 ...

pfam12444
Location:22 → 94

Sox_N; Sox developmental protein N terminal