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. Involved in several processes, including chondrocyte differentiation; negative regulation of transcription by RNA polymerase II; and positive regulation of chondrocyte differentiation. 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

184 figures from 141 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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