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. Used to study campomelic dysplasia. Human ortholog(s) of this gene implicated in 46,XX sex reversal 2; 46,XY sex reversal 10; campomelic dysplasia; lung cancer; and lung carcinoma. Orthologous to human SOX9 (SRY-box transcription factor 9).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
217 figures from 165 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
19 figures from 12 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
46,XX sex reversal 2 Alliance 46XX sex reversal 2 278850
46,XY sex reversal 10 Alliance 46XY sex reversal 10 616425
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
Human Disease Fish Conditions Citations
campomelic dysplasia sox9ahi1134Tg/hi1134Tg standard conditions (2)
campomelic dysplasia sox9atw37/tw37 standard conditions Yan et al., 2002
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 IPR050917 SOX Transcription Factors
Homologous_superfamily IPR036910 High mobility group box domain superfamily
Domain Details Per Protein
Protein Additional Resources Length High mobility group box domain High mobility group box domain superfamily Sox developmental protein N-terminal SOX Transcription Factors
UniProtKB:Q9DFH2 InterPro 462
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA sox9a-201 (1)
Ensembl
Ensembl 1,784 nt
ZFIN BLAST
mRNA sox9a-202 (1)
Ensembl
Ensembl 992 nt
ZFIN BLAST
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
5
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations
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