Gene
smarca4a
- ID
- ZDB-GENE-030605-1
- Name
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4a
- Symbol
- smarca4a Nomenclature History
- Previous Names
- 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
-
- All Expression Data
- 20 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:5611934 (1 image)
- IMAGE:6909706 (1 image)
- IMAGE:7138284 (1 image)
- ay205256 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- 24 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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} | 613325 |
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 |
| 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 | SWI/SNF complex subunit BRG1, ATP-binding |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q7ZSY3
|
1627 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
smarca4a-201
(1)
|
Havana | 5680 nt |
Interactions and Pathways
No data available
Plasmids
No data available