ANO5 - anoctamin 5 Gene
Also Known as GDD1; LGMD2L; LGMDR12; TMEM16E
Species: Homo sapiens
About ANO5
This gene has 20 transcripts (splice variants), 284 orthologues, 10 paralogues and is associated with 8 phenotypes. Broad expression in heart (RPKM 10.4), brain (RPKM 3.4) and 19 other tissues.
Summary
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 variants have been described. [provided by RefSeq, Nov 2009]
ANO5 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001142649.2 | NP_001136121.1 | anoctamin-5 isoform b |
| NM_001410963.1 | NP_001397892.1 | anoctamin-5 isoform c |
| NM_001410964.1 | NP_001397893.1 | anoctamin-5 isoform d |
| NM_213599.3 | NP_998764.1 | anoctamin-5 isoform a |
ANO5 Protein Structure
Anoctamin: Calcium-activated chloride channel (292 - 869)
- 0
- 200
- 400
- 600
- 800
- 913 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
anoctamin-5 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Gnathodiaphyseal Dysplasia |
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| Miyoshi Muscular Dystrophy 3 |
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| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
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| Isolated Elevated Serum Creatine Phosphokinase Levels |
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| Creatine Phosphokinase, Elevated Serum |
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| Fructose Intolerance, Hereditary |
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| Myopathy |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
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| Polycystic Kidney Disease |
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| Muscular Dystrophy |
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| Miyoshi Muscular Dystrophy |
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| Limb-Girdle Muscular Dystrophy |
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| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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| Spinocerebellar Ataxia, Autosomal Recessive 10 |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
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| Myopathy, Distal, 3 |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
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| Myopathy, Distal, 4 |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
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| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
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| Muscular Dystrophy-Dystroglycanopathy , Type C, 1 |
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| Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
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| Autosomal Dominant Limb-Girdle Muscular Dystrophy |
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| Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
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| Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
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| Muscular Dystrophy-Dystroglycanopathy , Type C, 2 |
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| Scott Syndrome |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
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| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
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| Spinal Muscular Atrophy, Type Ii |
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| Ossifying Fibroma |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
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| Myotonia Congenita |
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| Bethlem Myopathy 1 |
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| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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| Glycogen Storage Disease Ii |
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| Cenani-Lenz Syndactyly Syndrome |
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| Tibial Muscular Dystrophy |
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| Myofibrillar Myopathy |
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| Spinal Muscular Atrophy, Type Iii |
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| Osteochondrodysplasia |
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| Congenital Myasthenic Syndrome |
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| Neuromuscular Disease |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | ANO5 | MGD | MGI:3576659 |
| Rattus norvegicus | ANO5 | RGD | RGD:1564265 |
| Macaca mulatta | ANO5 | VGNC | VGNC:69720 |
| Bos taurus | ANO5 | VGNC | VGNC:25954 |
| Felis catus | ANO5 | VGNC | VGNC:59830 |
| Canis familiaris | ANO5 | VGNC | VGNC:37928 |
| Others | ANO5 | NCBI |