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Sox9
Gene Detail
Symbol

Name
ID
Sox9
SRY (sex determining region Y)-box 9
MGI:98371
Synonyms
2010306G03Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 11
77.27 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr11:112782224-112787760 bp, + strand
From VEGA annotation of GRCm38

  5537 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:294  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SOX9
Gene Tree: Sox9

Human
homologs
SOX9, SRY (sex determining region Y)-box 9
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 6662
neXtProt AC: NX_P48436

Human Synonyms: CMD1, CMPD1, SRA1, SRXX2, SRXY10

Human Chr (Location): 17q24.3; chr17:72121020-72126420 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human SOX9

Mutations,
alleles, and
phenotypes
All mutations/alleles(19) : Chemically induced (ENU)(1) Targeted(18)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Null mutant heterozygotes and conditional knockout mutants display perinatal lethality with cleft palate, hypoplasia and distortion of numerous cartilage-derived skeletal structures, and premature mineralization in many bones. Specific conditional knockout mutations are sex-reversed.
 
Human Diseases Modeled in Mice Using Sox9 (1)    Mutations Annotated to Human Diseases (4)    Phenotype Images(7)
Interactions
Sox9 interacts with 298 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (225 annotations)
Process astrocyte fate commitment, bronchus cartilage development, ...
Component intracellular, nuclear transcription factor complex, ...
Function beta-catenin binding, bHLH transcription factor binding, ...
External Resources: FuncBase
Expression
Literature Summary: (798 records)
Data Summary: Results (1460)    Tissues (725)    Images (404)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 181
RNA in situ 1050
In situ reporter (knock in) 33
Northern blot 9
RT-PCR 184
RNase protection 3
cDNA source data(114)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: GEISHA SOX9 ; Xenbase sox9 ; ZFIN sox9a, sox9b    NEW 
Molecular
reagents
All nucleic(166) Genomic(2) cDNA(117) Primer pair(21) Other(26)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000003313 (Evidence)
Ensembl Gene Model ENSMUSG00000000567 (Evidence)
Entrez Gene 20682 (Evidence)
UniGene 286407
DFCI TC1574097
DoTS DT.524924, DT.94207385
NIA Mouse Gene Index U013510
Consensus CDS Project CCDS25595.1
International Mouse Phenotyping Consortium Status Sox9
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003313 VEGA Gene Model | MGI Sequence Detail 5537 C57BL/6J ±  kb
transcript OTTMUST00000006937 VEGA | MGI Sequence Detail 4135 Not Applicable 
polypeptide OTTMUSP00000003300 VEGA | MGI Sequence Detail 507 Not Applicable 

For the selected sequences
All sequences(70) RefSeq(2) UniProt(22)
Polymorphisms
All PCR and RFLP(4) : PCR(2) RFLP(2) SNPs within 2kb(45 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009071 High mobility group (HMG) box domain
InterPro IPR022151 Sox developmental protein N-terminal
Protein Ontology PR:000015435 transcription factor SOX-9
References
(Earliest) J:4011 Wright EM, et al., Seven new members of the Sox gene family expressed during mouse development. Nucleic Acids Res. 1993 Feb 11;21(3):744
(Latest) J:223062 Palmer K, et al., Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. Dev Biol. 2015 Jul 30;
All references(930)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-14510, MGI:1917265, MGI:2144464

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory