Gene
smarca4a
- ID
- ZDB-GENE-030605-1
- Name
- SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4a
- Symbol
- smarca4a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable DNA binding activity; chromatin binding activity; and nucleosome array spacer activity. Acts upstream of or within several processes, including camera-type eye development; heart development; and nervous system development. 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 several structures, including hematopoietic multipotent progenitor cell; mesoderm; nervous system; pectoral fin; and presumptive neural retina. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 4; hepatocellular carcinoma; lung non-small cell carcinoma; and rhabdoid tumor predisposition syndrome 2. Orthologous to human SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 10 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 | Alliance | {Rhabdoid tumor predisposition syndrome 2} | 613325 |
| ?Otosclerosis 12 | 620792 |
1 - 3 of 3
Domain, Family, and Site Summary
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 | SWI/SNF complex subunit BRG1, ATP-binding |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q7ZSY3 | InterPro | 1627 |
1 - 1 of 1
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smarca4a-201
(1)
|
Ensembl | 5,680 nt | ||
| mRNA |
smarca4a-202
(1)
|
Ensembl | 6,220 nt |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
No data available