|
Metazoan complexes |
Emili & Marcotte labs |
Please wait while page loads....
- Home
-
H.sapiens
-
M.musculus
-
D.melanogaster
-
C.elegans
-
S.purpuratus
-
Conserved map
-
PPI Projections
- Download
- Help
- Contact
Details of ACTG1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| ACTG1 | ACTB,ACTG | P63261 | ACTG_HUMAN | 71 | ENSG00000184009 ENSG00000267807 | Actin, cytoplasmic 2 Actin, cytoplasmic 2, N-terminally processed | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations affecting the gene represented in this entry. | 604717 | Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614583 | ||||||
Phenotypes
Abnormality of the ear, Abnormality of the middle ear, All, Autosomal dominant inheritance, Bilateral conductive hearing impairment, Conductive hearing impairment, Functional abnormality of the middle ear, Hearing abnormality, Hearing impairment, Mode of inheritance, Phenotypic abnormality.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| --- | Act42A... | act-2... | Sp-Msclact | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| CORO1B | ACTG1 | 0.220572042 | CORO1B | ACTG1 | cpx62 | no | yes | yes | Known |
| ACTG1 | EEF1A2 | 0.373548906 | ACTG1 | EEF1A2 | cpx62 | no | no | yes | Known |
| ACTG1 | CAD | 0.100707974 | ACTG1 | CAD | cpx62 | no | no | no | Novel |
| ACTG1 | RUVBL1 | 0.458074671 | ACTG1 | RUVBL1 | cpx62 | no | yes | yes | Known |
| ACTG1 | RUVBL2 | 0.1411324 | ACTG1 | RUVBL2 | cpx62 | no | yes | yes | Known |