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Details of ARID1A gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ARID1A | BAF250,BAF250A,C1orf4,OSA1,SMARCF1 | O14497 | ARI1A_HUMAN | 8289 | ENSG00000117713 | AT-rich interactive domain-containing protein 1A | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Mental retardation, autosomal dominant 14 (MRD14) [MIM:614607]: A disease characterized by multiple congenital anomalies and mental retardation. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD14 patients manifest developmental delay, abnormal corpus callosum, absent/hypoplastic fifth finger/toenails, sparse scalp hair, long eyelashes, and a coarse facial appearance with wide mouth, thick lips, and abnormal ears. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614607 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Arid1a | osa | let-526 | Sp-SwiL | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| SS18 | ARID1A | 1 | SS18 | ARID1A | cpx6 | no | no | no | Novel |
| SMARCC2 | ARID1A | 1 | SMARCC2 | ARID1A | cpx6 | yes | yes | yes | Known |
| BCL7B | ARID1A | 1 | BCL7B | ARID1A | cpx6 | no | no | no | Novel |
| ARID1B | ARID1A | 1 | ARID1B | ARID1A | cpx6 | no | yes | yes | Known |
| BCL7C | ARID1A | 1 | BCL7C | ARID1A | cpx6 | no | yes | yes | Known |
| SMARCD2 | ARID1A | 1 | SMARCD2 | ARID1A | cpx6 | yes | yes | no | Known |
| BCL7A | ARID1A | 1 | BCL7A | ARID1A | cpx6 | no | no | no | Novel |
| DPF3 | ARID1A | 1 | DPF3 | ARID1A | cpx6 | no | no | no | Novel |
| SMARCD3 | ARID1A | 1 | SMARCD3 | ARID1A | cpx6 | yes | yes | no | Known |
| SMARCE1 | ARID1A | 1 | SMARCE1 | ARID1A | cpx6 | yes | yes | yes | Known |
| DPF2 | ARID1A | 1 | DPF2 | ARID1A | cpx6 | yes | yes | yes | Known |
| SMARCC1 | ARID1A | 1 | SMARCC1 | ARID1A | cpx6 | yes | yes | yes | Known |
| SMARCB1 | ARID1A | 1 | SMARCB1 | ARID1A | cpx6 | yes | yes | yes | Known |
| SMARCD1 | ARID1A | 1 | SMARCD1 | ARID1A | cpx6 | yes | yes | no | Known |
| ARID1A | SMARCA2 | 1 | ARID1A | SMARCA2 | cpx6 | yes | yes | yes | Known |
| ARID1A | SMARCA4 | 1 | ARID1A | SMARCA4 | cpx6 | yes | yes | yes | Known |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|