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GeneQ18031654· pop 11· linked from 861 articles

SOX9

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Also known as CMD1, CMPD1, SRA1, SRXX2, SRXY10, SRY-box 9, SRY-box transcription factor 9

Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.

In the Vinony graph

Vinony's link graph records 861 inbound references to SOX9, and connects out to Sex determining region Y, PubMed and homeobox.

It sits within the topics Genes on human chromosome 17 and Transcription factors.

Vinony links it to 11 Wikipedia language editions.

Gene data

SOX9

Name: SRY-box transcription factor 9
Type: protein-coding
Position: 72,121,013–72,126,416 (+)
Aliases: CMD1, CMPD1, ENH13, SRA1, SRXX2, SRXY10, TESCO
Ensembl: ENSG00000125398
RefSeq RNA: NM_000346.4
RefSeq protein: NP_000337.1

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].

Gene Ontology

Biological process

negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II skeletal system development cartilage condensation ossification branching involved in ureteric bud morphogenesis cell fate specification

Molecular function

transcription cis-regulatory region binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific

Cellular component

chromatin nucleus nucleus nucleus nucleus nucleoplasm nucleoplasm transcription regulator complex

Pathways

cAMP signaling pathway - Homo sapiens (human)Developmental Biology Developmental Biology Signal Transduction Signaling by WNT TCF dependent signaling in response to WNT Generic Transcription Pathway Deactivation of the beta-catenin transactivating complex RNA Polymerase II Transcription Gene expression (Transcription)

via MyGene.info

Gene · Ensembl

SRY-box transcription factor 9

Symbol: SOX9
Biotype: Protein coding
Organism: Homo sapiens
Location: 17:72,121,013-72,126,416
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene
Image: Protein SOX9 PDB 1S9M.png

Show 8 more facts

HomoloGene ID: 294
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/6662
genomic end: 70122561
genomic start: 70117161
chromosome: human chromosome 17
cytogenetic location: 17q24.3
expressed in: pylorus

Sources (5)

via Wikidata · CC0

~6 min read

Encyclopedic overview

10 sections

Contents

Function
Clinical significance
SOX9 localization and dynamics
Role in Sexual Differentiation
Interactions
Knock out models
See also
Further reading
References
External links

Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.

== Function ==

Excerpted from Wikipedia’s “SOX9” article, available under the CC BY-SA 4.0 licence.

Available in 11 languages

via Wikidata sitelinks · CC0

Categories

Genes on human chromosome 17 Transcription factors