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 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 hematopoietic multipotent progenitor cell; liver; and pronephric duct. Human ortholog(s) of this gene implicated in Nicolaides-Baraitser syndrome and blepharophimosis-impaired intellectual development syndrome. Orthologous to human SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 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 | Additional Resources | 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 | InterPro | 1568 | ||||||||||||||
| UniProtKB:A0A8M3ASL9 | InterPro | 1578 | ||||||||||||||
| UniProtKB:A0AB32TQL1 | InterPro | 987 |
| 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