Gene
smarca2
- ID
- ZDB-GENE-030131-5964
- Name
- SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
- Symbol
- smarca2 Nomenclature History
- Previous Names
-
- wu:fa56c07
- wu:fi27f11
- zgc:66238
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable ATP-dependent activity, acting on DNA and DNA binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within chromatin remodeling and regulation of DNA-templated transcription. Predicted to be part of SWI/SNF complex. Predicted to be active in nucleus. Is expressed in liver and pronephric duct. Orthologous to human SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66238 (10 images)
- IMAGE:7157675 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Laue et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
blepharophimosis-impaired intellectual development syndrome | Alliance | Blepharophimosis-impaired intellectual development syndrome | 619293 |
Nicolaides-Baraitser syndrome | Alliance | Nicolaides-Baraitser syndrome | 601358 |
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 | 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 |
Domain Details Per Protein
Protein | Length | BRK domain | BRK domain superfamily | Bromodomain | Bromodomain, conserved site | Bromodomain-like superfamily | Glutamine-Leucine-Glutamine, QLQ | Helicase, C-terminal domain-like | Helicase/SANT-associated domain | Helicase superfamily 1/2, ATP-binding domain | P-loop containing nucleoside triphosphate hydrolase | Snf2, ATP coupling domain | SNF2-like, N-terminal domain superfamily | SNF2, N-terminal | SNF2/RAD5-like, C-terminal helicase domain |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q1MTE3
|
1568 | ||||||||||||||
UniProtKB:A0A8M3ASL9
|
1578 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
smarca2-201
(1)
|
Ensembl | 6,051 nt | ||
mRNA |
smarca2-202
(1)
|
Ensembl | 823 nt | ||
mRNA |
smarca2-203
(1)
|
Ensembl | 663 nt | ||
mRNA |
smarca2-204
(1)
|
Ensembl | 4,830 nt |
Interactions and Pathways
No data available
Plasmids
No data available