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Sox9 Gene Detail
Summary
  • Symbol
    Sox9
  • Name
    SRY (sex determining region Y)-box 9
  • Synonyms
    2010306G03Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:98371
    NCBI Gene: 20682
  • Gene Overview
    MyGene.info: SOX9
Location & Maps
more
  • Sequence Map
    Chr11:112782224-112787760 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      5537 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 77.27 cM
  • Mapping Data
    11 experiments
Homology
more
  • Human Ortholog
    SOX9, SRY-box 9
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SOX9, SRY-box 9
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMD1, CMPD1, SRA1, SRXX2, SRXY10
  • Links
    NCBI Gene ID: 6662
    neXtProt AC: NX_P48436

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

  • HomoloGene
    Vertebrate Homology Class 294
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: SOX9
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Sox9 mouse models; 2 with human SOX9 associations

Human Disease Mouse Models
       Campomelic Dysplasia   OMIM: 114290 View 8 models
       46,xy Sex Reversal 10; SRXY10   OMIM: 616425
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    184 phenotypes from 16 alleles in 28 genetic backgrounds
    76 phenotypes from multigenic genotypes
    7 images
    142 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    31
  • Chemically induced (ENU)
    1
  • Targeted
    18
  • Transgenic
    12
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    45 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    22 Sequences
  • Protein Ontology
    PR:000015435 transcription factor SOX-9
  • PDB
  • InterPro Domains
    IPR009071 High mobility group box domain
    IPR022151 Sox developmental protein N-terminal
    IPR029548 Transcription factor SOX-9
Molecular
Reagents
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  • All nucleic 172
    Genomic 2
    cDNA 119
    Primer pair 21
    Other 30

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-14510, MGI:1917265, MGI:2144464
References
more
  • Summaries
    All 1004
    Developmental Gene Expression 861
    Diseases 5
    Gene Ontology 76
    Phenotypes 142
  • 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:234264 Shwartz Y, et al., Joint Development Involves a Continuous Influx of Gdf5-Positive Cells. Cell Rep. 2016 Jun 21;15(12):2577-87

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
09/27/2016
MGI 6.05
The Jackson Laboratory