Gene

sox11a

ID

ZDB-GENE-980526-395

Name

SRY-box transcription factor 11a

Symbol

sox11a Nomenclature History

Previous Names

cb237 (1)
etID309973.17 (1)
id:ibd2104 (1)
wu:fb16g02 (1)
zgc:136533

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within brain development; camera-type eye development; and negative regulation of smoothened signaling pathway. Predicted to be located in nucleus. Is expressed in several structures, including mesoderm; nervous system; neural keel; pleuroperitoneal region; and somite. Used to study Coffin-Siris syndrome. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 9. Orthologous to human SOX11 (SRY-box transcription factor 11).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

35 figures from 13 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb237 (25 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With sox11a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Coffin-Siris syndrome 9	Alliance	Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	615866

Associated With sox11a Via Experimental Models

Human Disease	Fish	Conditions	Citations
Coffin-Siris syndrome	sox11a^{ihb607/ihb607} (AB)	standard conditions	Jia et al., 2020

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR009071	High mobility group box domain
Family	IPR017386	Transcription factor SOX-12/11/4
Homologous_superfamily	IPR036910	High mobility group box domain superfamily