Gene

smarca4a

ID

ZDB-GENE-030605-1

Name

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4a

Symbol

smarca4a Nomenclature History

Previous Names

brg1 (2)
smarca2
smarca4
brahma-related gene 1 (1)
wu:fb51a08
yng
young

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Predicted to have DNA binding activity; DNA-dependent ATPase activity; and transcription factor binding activity. Involved in several processes, including animal organ development; fin regeneration; and nervous system development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 4; lung non-small cell carcinoma; and rhabdoid cancer. Is expressed in head; mesoderm; nervous system; pectoral fin; and presumptive neural retina. Orthologous to human SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

21 figures from 10 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:5611934 (1 image)
IMAGE:6909706 (1 image)
IMAGE:7138284 (1 image)
ay205256 (17 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 24 figures from 10 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With smarca4a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Coffin-Siris syndrome 4	Alliance	Coffin-Siris syndrome 4	614609
rhabdoid tumor predisposition syndrome 2	Alliance	{Rhabdoid tumor predisposition syndrome 2}	613325
		?Otosclerosis 12	620792

Associated With smarca4a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR018359	Bromodomain, conserved site
Domain	IPR000330	SNF2, N-terminal
Domain	IPR001487	Bromodomain
Domain	IPR001650	Helicase, C-terminal domain-like
Domain	IPR006576	BRK domain
Domain	IPR014001	Helicase superfamily 1/2, ATP-binding domain
Domain	IPR014012	Helicase/SANT-associated domain
Domain	IPR014978	Glutamine-Leucine-Glutamine, QLQ
Domain	IPR029295	Snf2, ATP coupling domain
Domain	IPR030100	SWI/SNF complex subunit BRG1, ATP-binding
Domain	IPR049730	SNF2/RAD5-like, C-terminal helicase domain
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR036427	Bromodomain-like superfamily
Homologous_superfamily	IPR037259	BRK domain superfamily
Homologous_superfamily	IPR038718	SNF2-like, N-terminal domain superfamily