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 have DNA binding activity and DNA-dependent ATPase activity. Predicted to be involved in ATP-dependent chromatin remodeling and positive regulation of transcription by RNA polymerase II. Predicted to localize to 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 | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
smarca2-201
(1)
|
Havana | 6051 nt | |
mRNA |
smarca2-202
(1)
|
Havana | 823 nt | |
mRNA |
smarca2-203
(1)
|
Havana | 663 nt | |
mRNA |
smarca2-204
(1)
|
Ensembl | 4830 nt |
Interactions and Pathways
No data available
Plasmids
No data available