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Details of ARID1B gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ARID1B | BAF250B,DAN15,KIAA1235,OSA2 | Q8NFD5 | ARI1B_HUMAN | 57492 | ENSG00000049618 | AT-rich interactive domain-containing protein 1B | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Mental retardation, autosomal dominant 12 (MRD12) [MIM:614562]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD12 patients present with moderate to severe psychomotor retardation, and most show evidence of muscular hypotonia. In many patients, expressive speech is more severely affected than receptive function. Additional common findings include short stature, abnormal head shape and low-set, posteriorly rotated, and abnormally shaped ears, downslanting palpebral fissures, a bulbous nasal tip, a thin upper lip, minor teeth anomalies, and brachydactyly or single palmar creases. Autistic features are uncommon. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614562 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Arid1b | 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 |
|---|---|---|---|---|---|---|---|---|---|
| ARID1B | ARID1A | 1 | ARID1B | ARID1A | cpx6 | no | yes | yes | Known |
| SS18 | ARID1B | 1 | SS18 | ARID1B | cpx6 | no | no | no | Novel |
| DPF2 | ARID1B | 1 | DPF2 | ARID1B | cpx6 | no | no | no | Novel |
| SMARCC2 | ARID1B | 1 | SMARCC2 | ARID1B | cpx6 | yes | yes | yes | Known |
| DPF3 | ARID1B | 1 | DPF3 | ARID1B | cpx6 | no | no | no | Novel |
| SMARCB1 | ARID1B | 1 | SMARCB1 | ARID1B | cpx6 | yes | yes | yes | Known |
| SMARCD2 | ARID1B | 1 | SMARCD2 | ARID1B | cpx6 | yes | no | no | Known |
| SMARCD1 | ARID1B | 1 | SMARCD1 | ARID1B | cpx6 | yes | yes | yes | Known |
| SMARCD3 | ARID1B | 1 | SMARCD3 | ARID1B | cpx6 | no | no | no | Novel |
| SMARCC1 | ARID1B | 1 | SMARCC1 | ARID1B | cpx6 | yes | yes | yes | Known |
| ARID1B | BCL7A | 1 | ARID1B | BCL7A | cpx6 | no | no | no | Novel |
| ARID1B | BCL7B | 1 | ARID1B | BCL7B | cpx6 | no | no | no | Novel |
| ARID1B | BCL7C | 1 | ARID1B | BCL7C | cpx6 | no | no | no | Novel |
| ARID1B | SMARCA2 | 1 | ARID1B | SMARCA2 | cpx6 | no | yes | yes | Known |
| ARID1B | SMARCA4 | 1 | ARID1B | SMARCA4 | cpx6 | yes | yes | yes | Known |
| ARID1B | SMARCE1 | 1 | ARID1B | SMARCE1 | cpx6 | yes | yes | no | Known |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|