Human Gene SOX9 (ENST00000245479.3) from GENCODE V44
Description: Homo sapiens SRY-box transcription factor 9 (SOX9), mRNA. (from RefSeq NM_000346) RefSeq Summary (NM_000346): 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]. Gencode Transcript: ENST00000245479.3 Gencode Gene: ENSG00000125398.8 Transcript (Including UTRs) Position: hg38 chr17:72,121,020-72,126,416 Size: 5,397 Total Exon Count: 3 Strand: + Coding Region Position: hg38 chr17:72,121,392-72,124,387 Size: 2,996 Coding Exon Count: 3
ID:SOX9_HUMAN DESCRIPTION: RecName: Full=Transcription factor SOX-9; FUNCTION: Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes. SUBCELLULAR LOCATION: Nucleus (Potential). DISEASE: Defects in SOX9 are the cause of campomelic dysplasia (CMD1) [MIM:114290]. CMD1 is a rare, often lethal, dominantly inherited, congenital osteochondrodysplasia, associated with male- to-female autosomal sex reversal in two-thirds of the affected karyotypic males. A disease of the newborn characterized by congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate, micrognatia, flat face and hypertelorism are common. Various defects of the ear are often evident, affecting the cochlea, malleus incus, stapes and tympanum. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. DISEASE: Defects in SOX9 are the cause of 46,XX sex reversal type 2 (SRXX2) [MIM:278850]. SRXX2 is a condition in which male gonads develop in a genetic female (female to male sex reversal). SIMILARITY: Contains 1 HMG box DNA-binding domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOX9";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P48436
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
GeneReviews article(s) related to gene SOX9: campo-dysp (Campomelic Dysplasia) gonad-dys-46xy (Nonsyndromic Disorders of Testicular Development Overview) xxms (Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development)
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