smarca4b

ID

ZDB-GENE-140106-1

Name

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

Symbol

smarca4b Nomenclature History

Previous Names

zmp:0000001041 (1)

Type

protein_coding_gene

Location

Chr: 6 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable DNA binding activity; chromatin binding activity; and nucleosome array spacer activity. Predicted to be involved in heterochromatin formation and positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be part of SWI/SNF complex. Predicted to be active in chromatin and nucleus. Is expressed in telencephalon.

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Diotel et al., 2015

Cross-Species Comparison

High Throughput Data

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: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With smarca4b 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 smarca4b 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