Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6662
Gene name Gene Name - the full gene name approved by the HGNC.
SRY-box transcription factor 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOX9
Synonyms (NCBI Gene) Gene synonyms aliases
CMD1, CMPD1, ENH13, SRA1, SRXX2, SRXY10, TES, TESCO
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMD1, SRXX2, SRXY10
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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-Muelleria
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2229989 C>G,T Pathogenic, benign, uncertain-significance Coding sequence variant, synonymous variant, missense variant
rs80338688 C>A,G,T Benign-likely-benign, pathogenic Stop gained, coding sequence variant, synonymous variant
rs104894647 A>G Pathogenic Missense variant, coding sequence variant
rs144824678 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant
rs370951695 C>T Conflicting-interpretations-of-pathogenicity Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005049 hsa-let-7b-5p Microarray 17699775
MIRT006193 hsa-miR-199a-5p qRT-PCR 22441842
MIRT006193 hsa-miR-199a-5p qRT-PCR 22441842
MIRT006193 hsa-miR-199a-5p qRT-PCR 22441842
MIRT006193 hsa-miR-199a-5p qRT-PCR 22441842
Transcription factors
Transcription factor Regulation Reference
CEBPZ Unknown 15908194
CREB1 Unknown 17289023
GLI1 Unknown 17409199
SF1 Unknown 21412441
SP1 Activation 17289023
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 29503843
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 20530484
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608160 11204 ENSG00000125398
Protein
UniProt ID P48436
Protein name Transcription factor SOX-9
Protein function Transcription factor that plays a key role in chondrocytes differentiation and skeletal development (PubMed:24038782). Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes import
PDB 4EUW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12444 Sox_N 21 94 Sox developmental protein N terminal Family
PF00505 HMG_box 105 173 HMG (high mobility group) box Domain
Sequence
MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDL
KKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVR
VNGSSKNKPHVKRPMNAFMVWAQAAR
RKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAERLRVQHKKDHPDYK
YQPRRRK
SVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPGEHSGQSQGPPTPPTT
PKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPP
NGHPGVPATHGQVTYTGSYGISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPP
QPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKTEQLSPSHYSEQQQHSPQQIAY
SPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPI
ADTSGVPSIPQTHSPQHWEQPVYTQLTRP
Sequence length 509
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  cAMP signaling pathway   Deactivation of the beta-catenin transactivating complex
Transcriptional regulation by RUNX2
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
46, xx gonadal sex reversal 46,XX testicular disorder of sex development, 46, XX Testicular Disorders of Sex Development rs104894119 24140641
46, xy partial gonadal dysgenesis 46,XY partial gonadal dysgenesis rs193922688 22051515
Acampomelic campomelic dysplasia Acampomelic Campomelic Dysplasia rs104894647, rs28940282, rs137853128
Anonychia ANONYCHIA rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150 19639023
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Mental depression Unipolar Depression, Major Depressive Disorder 25880836 ClinVar
Pierre-Robin Syndrome isolated Pierre-Robin syndrome GenCC
46, XX Gonadal Sex Reversal 46,XX sex reversal 1 GenCC
Associations from Text Mining
Disease Name Relationship Type References
46 XX Disorders of Sex Development Associate 25351776, 25900885, 31476840, 34050715
46 XX Testicular Disorders of Sex Development Associate 17185244, 25900885, 28085555, 29371155, 34050715, 7485151, 8880588, 9002675
46 XY female Associate 34112222
Achondrogenesis type 2 Stimulate 32790806
Acne Vulgaris Associate 29771405
Adenocarcinoma Associate 29522538, 35328735
Adenocarcinoma of Lung Associate 37919693
Adenoma Associate 26317775, 29575536
Ankylosis Associate 34826571
Anophthalmia with pulmonary hypoplasia Associate 26578390