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Gene

sox9a

ID
ZDB-GENE-001103-1
Name
SRY-box transcription factor 9a
Symbol
sox9a Nomenclature History
Previous Names
  • jef (1)
  • jellyfish
  • wu:fj17b12
  • zgc:111921
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Enables chromatin binding activity. Acts upstream of or within cartilage morphogenesis; embryonic morphogenesis; and glial cell differentiation. Located in cytoplasm. Is expressed in several structures, including brain; ectoderm; head; reproductive system; and skeletal system. Human ortholog(s) of this gene implicated in 46,XX sex reversal 2; 46,XY sex reversal 10; and campomelic dysplasia. Orthologous to human SOX9 (SRY-box transcription factor 9).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
180 figures from 138 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
18 figures from 11 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With sox9a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
campomelic dysplasia Alliance Acampomelic campomelic dysplasia 114290
campomelic dysplasia Alliance Campomelic dysplasia 114290
campomelic dysplasia Alliance Campomelic dysplasia with autosomal sex reversal 114290
Associated With sox9a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR009071 High mobility group box domain
Domain IPR022151 Sox developmental protein N-terminal
Family IPR029548 Transcription factor SOX-9
Homologous_superfamily IPR036910 High mobility group box domain superfamily
Domain Details Per Protein
Protein Length High mobility group box domain High mobility group box domain superfamily Sox developmental protein N-terminal Transcription factor SOX-9
UniProtKB:Q567L2 247
UniProtKB:Q8AY39 146
UniProtKB:F1Q8I8 247
UniProtKB:Q9DFH2 462
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-sox9 monoclonal IgG2a , k Mouse
  • IHC
Abcam plc
4
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations