MYO15A - myosin XVA Gene
Also Known as DFNB3; MYO15
Species: Homo sapiens
About MYO15A
This gene has 23 transcripts (splice variants), 133 orthologues, 43 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 1.5), ovary (RPKM 0.3) and 6 other tissues.
Summary
This gene encodes an unconventional Myosin. This protein differs from Other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
MYO15A Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_016239.4 | NP_057323.3 | unconventional myosin-XV |
MYO15A Protein Structure
Myosin_head: Myosin head (motor domain) (1224 - 1887)
IQ: IQ calmodulin-binding motif (1927 - 1946)
MyTH4: MyTH4 domain (2110 - 2215)
SH3_2: Variant SH3 domain (2871 - 2950)
MyTH4: MyTH4 domain (3091 - 3203)
FERM_M: FERM central domain (3304 - 3419)
- 0
- 600
- 1200
- 1800
- 2400
- 3000
- 3530 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
unconventional myosin-XV |
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Recessive 3 |
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| Ear Malformation |
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| Non-Syndromic Genetic Deafness |
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| Nonsyndromic Hearing Loss |
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| Rare Genetic Deafness |
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| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
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| Deafness, Autosomal Recessive 2 |
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| Autosomal Recessive Nonsyndromic Deafness 3 |
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| Autosomal Recessive Nonsyndromic Deafness |
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| Smith-Magenis Syndrome |
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| Deafness, Autosomal Dominant 22 |
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| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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| Deafness, Autosomal Recessive 30 |
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| Deafness, Autosomal Recessive |
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| Deafness, Autosomal Dominant 11 |
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| Deafness, Autosomal Recessive 37 |
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| Deafness, Autosomal Dominant 48 |
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| Autosomal Recessive Nonsyndromic Deafness 70 |
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| Deafness, Autosomal Recessive 102 |
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| Deafness, Autosomal Dominant 4a |
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| Deafness, Autosomal Dominant 17 |
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| Usher Syndrome, Type Iid |
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| Deafness, Autosomal Dominant 36 |
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| Sensorineural Hearing Loss |
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| Deafness, Autosomal Recessive 9 |
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| Usher Syndrome, Type Iiia |
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| Deafness, Autosomal Recessive 21 |
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| Usher Syndrome, Type I |
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| Deafness, Autosomal Recessive 16 |
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| Y-Linked Deafness |
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| Deafness, Autosomal Recessive 79 |
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| Auditory System Disease |
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| Deafness And Myopia |
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| Deafness, Autosomal Dominant 27 |
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| Deafness, Autosomal Recessive 83 |
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| Deafness, Autosomal Recessive 12 |
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| Deafness, Autosomal Recessive 1b |
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| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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| Usher Syndrome, Type Id |
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| Deafness, Autosomal Recessive 63 |
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| Deafness, Autosomal Recessive 25 |
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| Deafness, Autosomal Recessive 42 |
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| Superior Semicircular Canal Dehiscence |
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| Deafness, Autosomal Recessive 23 |
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| Deafness, Autosomal Recessive 18a |
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| Deafness, Autosomal Recessive 24 |
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| Deafness, Autosomal Recessive 84a |
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| Autosomal Recessive Nonsyndromic Deafness 36 |
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| Usher Syndrome, Type Ic |
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| Deafness, Autosomal Recessive 49 |
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| Vestibular Disease |
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| Deafness, Autosomal Recessive 35 |
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| Usher Syndrome, Type Iia |
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| Usher Syndrome Type 2 |
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| Deafness, Autosomal Recessive 1a |
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| Autosomal Dominant Nonsyndromic Deafness |
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| Deafness, Autosomal Recessive 86 |
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| Waardenburg'S Syndrome |
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| Deafness, Autosomal Recessive 29 |
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| Deafness, Autosomal Recessive 15 |
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| Deafness, Autosomal Dominant 7 |
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| Inner Ear Disease |
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| Pendred Syndrome |
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| Usher Syndrome |
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| Usher Syndrome, Type Iic |
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| Waardenburg Syndrome, Type 1 |
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| Branchiootorenal Syndrome |
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| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
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| Otosclerosis |
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| Noonan Syndrome 1 |
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| Retinitis Pigmentosa |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | MYO15A | RGD | RGD:1561873 |
| Mus musculus | MYO15A | MGD | MGI:1261811 |
| Canis familiaris | MYO15A | VGNC | VGNC:43555 |
| Macaca mulatta | MYO15A | VGNC | VGNC:75109 |
| Bos taurus | MYO15A | VGNC | VGNC:31812 |
| Others | MYO15A | NCBI |