Basic Information

Symbol
SOX9
RNA class
mRNA
Alias
SRY-Box Transcription Factor 9 SRA1 Transcription Factor SOX-9 SRY-Box 9 CMPD1 CMD1 Campomelic Dysplasia, Autosomal Sex-Reversal SRY (Sex-Determining Region Y)-Box 9 Protein SRY (Sex Determining Region Y)-Box 9 SRY (Sex Determining Region Y)-Box9 SRY-Related HMG-Box, Gene 9 SRXY10 ENH13 SRXX2 TESCO TES
Location (GRCh38)
17:72121020-72126416
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Mechanical injury analysis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_000346.4
Sequence length
3931.0 nt
GC content
0.5106

Transcripts

ID Sequence Length GC content
NM_000346.4 NCBI
GGAGAGCCGAAAGCGGAGCUCGAAACUGACUGGAAACUUCAGUGGCGCG… 3931 nt 0.5106
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]

Forensic Context

A study in rats demonstrated that the SOX9 was significantly altered in expression on day 4 following a 20% total body surface area burn injury [Jayaraman et al. DOI:10.1016/j.jss.2007.05.025].