SOX9
Sign in to saveAlso 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.
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
Molecular function
Pathways
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
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
via Wikidata · CC0
~6 min read
Encyclopedic overview
10 sectionsContents
- 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.