|
Gene id |
203859 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
ANO5 Gene UCSC Ensembl |
|
Aliases |
GDD1, LGMD2L, LGMDR12, TMEM16E |
|
Gene name |
anoctamin 5 |
|
Alternate names |
anoctamin-5, gnathodiaphyseal dysplasia 1 protein, integral membrane protein GDD1, transmembrane protein 16E, |
|
Gene location |
11p14.3 (22192484: 22283366) Exons: 23 NC_000014.9
|
|
Gene summary(Entrez) |
This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript
|
|
OMIM |
608662 |
|
| Associated diseases |
References |
| Distal myopathy | KEGG: H00594 |
| Muscular dystrophy | KEGG: H00593 |
| Male factor infertility | MIK: 26667038 |
| Affects sperm motility | MIK: 26667038 |
| Gnathodiaphyseal dysplasia | KEGG: H00498 |
| Miyoshi myopathy | KEGG: H01965 |
| Affects sperm motility, Male infertility | MIK: 26667038 |
| Cryptorchidism | MIK: 28606200 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 26667038 |
Affects sp
erm motili
ty, Male i
nfertility
|
|
|
|
Male infertility |
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|