MYO7A - myosin VIIA Gene
Also Known as DFNB2; MYU7A; NSRD2; USH1B; DFNA11; MYOVIIA
Species: Homo sapiens
About MYO7A
This gene has 13 transcripts (splice variants), 258 orthologues, 43 paralogues and is associated with 9 phenotypes. Broad expression in adrenal (RPKM 8.3), testis (RPKM 6.5) and 17 other tissues.
Summary
This gene is a member of the Myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with Other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional Myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
MYO7A Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000260.4 | NP_000251.3 | unconventional myosin-VIIa isoform 1 |
| NM_001127180.2 | NP_001120652.1 | unconventional myosin-VIIa isoform 2 |
| NM_001369365.1 | NP_001356294.1 | unconventional myosin-VIIa isoform 4 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables actin filament binding |
IDA
IDA: Inferred from direct assay
|
21687988 | GOA |
| enables calmodulin binding |
IMP
IMP: Inferred from mutant phenotype
|
15300860 | GOA |
| enables microfilament motor activity |
IDA
IDA: Inferred from direct assay
|
21687988 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11964381 | GOA |
| enables spectrin binding |
IDA
IDA: Inferred from direct assay
|
23704327 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in actin filament-based movement |
IDA
IDA: Inferred from direct assay
|
21687988 | GOA |
| involved in equilibrioception |
IMP
IMP: Inferred from mutant phenotype
|
7870171 | GOA |
| involved in lysosome organization |
IDA
IDA: Inferred from direct assay
|
16001398 | GOA |
| involved in sensory perception of light stimulus |
IMP
IMP: Inferred from mutant phenotype
|
11398101 | GOA |
| acts upstream of or within sensory perception of sound |
IMP
IMP: Inferred from mutant phenotype
|
7870171 | GOA |
| involved in sensory perception of sound |
IMP
IMP: Inferred from mutant phenotype
|
7870171 | GOA |
| involved in visual perception |
IMP
IMP: Inferred from mutant phenotype
|
7870171 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
23704327 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
15300860 | GOA |
| located in lysosomal membrane |
IDA
IDA: Inferred from direct assay
|
16001398 | GOA |
| located in photoreceptor inner segment |
IDA
IDA: Inferred from direct assay
|
8842737 | GOA |
| located in photoreceptor outer segment |
IDA
IDA: Inferred from direct assay
|
8842737 | GOA |
| located in synapse |
IDA
IDA: Inferred from direct assay
|
8842737 | GOA |
MYO7A Protein Structure
Myosin_head: Myosin head (motor domain) (67 - 729)
IQ: IQ calmodulin-binding motif (769 - 787)
IQ: IQ calmodulin-binding motif (815 - 834)
IQ: IQ calmodulin-binding motif (839 - 856)
MyTH4: MyTH4 domain (1149 - 1253)
FERM_N: FERM N-terminal domain (1262 - 1348)
MyTH4: MyTH4 domain (1791 - 1896)
FERM_M: FERM central domain (2013 - 2115)
- 0
- 400
- 800
- 1200
- 1600
- 2000
- 2215 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
unconventional myosin-VIIa |
|
MYO7A Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81920 | MYO7A Antibody (YA1665) | WB, ICC/IF, FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Usher Syndrome, Type I |
|
|
| Deafness, Autosomal Dominant 11 |
|
|
| Deafness, Autosomal Recessive 2 |
|
|
| Usher Syndrome Type 2 |
|
|
| Usher Syndrome |
|
|
| Sensorineural Hearing Loss |
|
|
| Ear Malformation |
|
|
| Non-Syndromic Genetic Deafness |
|
|
| Nonsyndromic Hearing Loss |
|
|
| Rare Genetic Deafness |
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
|
| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Fundus Dystrophy |
|
|
| Retinitis Pigmentosa |
|
|
| Meniere Disease |
|
|
| Dfnb1 |
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
|
| Deafness, Autosomal Recessive 3 |
|
|
| Inner Ear Disease |
|
|
| Retinal Degeneration |
|
|
| Usher Syndrome, Type Ic |
|
|
| Deafness, Autosomal Recessive |
|
|
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
|
| Autosomal Recessive Nonsyndromic Deafness 3 |
|
|
| Deafness, Autosomal Dominant 15 |
|
|
| Usher Syndrome, Type Iiia |
|
|
| Deafness, Autosomal Recessive 18a |
|
|
| Deafness, Autosomal Dominant 22 |
|
|
| Deafness, Autosomal Dominant 48 |
|
|
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
|
| Deafness, Autosomal Recessive 37 |
|
|
| Deafness, Autosomal Recessive 23 |
|
|
| Auditory System Disease |
|
|
| Deafness, Autosomal Dominant 17 |
|
|
| Vestibular Disease |
|
|
| Deafness, Autosomal Dominant 9 |
|
|
| Labyrinthitis |
|
|
| Deafness, Autosomal Recessive 12 |
|
|
| Usher Syndrome, Type Id |
|
|
| Deafness, Autosomal Recessive 30 |
|
|
| Drug-Induced Hearing Loss |
|
|
| Retinoschisis 1, X-Linked, Juvenile |
|
|
| Retinitis Pigmentosa-Deafness Syndrome |
|
|
| Keratitis, Hereditary |
|
|
| Deafness, Autosomal Recessive 9 |
|
|
| Peripheral Vertigo |
|
|
| Deafness, Autosomal Dominant 36 |
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
|
| Deafness And Myopia |
|
|
| Deafness, Autosomal Recessive 76 |
|
|
| Usher Syndrome, Type If |
|
|
| Usher Syndrome, Type Ig |
|
|
| Usher Syndrome, Type Iid |
|
|
| Deafness, Autosomal Recessive 39 |
|
|
| Deafness, Autosomal Dominant 25 |
|
|
| Deafness, Autosomal Recessive 63 |
|
|
| Bardet-Biedl Syndrome |
|
|
| Retinitis Pigmentosa 73 |
|
|
| Deafness, Autosomal Recessive 83 |
|
|
| Deafness, Autosomal Recessive 100 |
|
|
| Deafness, Autosomal Recessive 1a |
|
|
| Usher Syndrome, Type Iia |
|
|
| Eye Degenerative Disease |
|
|
| Stargardt Disease |
|
|
| Acute Hemorrhagic Leukoencephalitis |
|
|
| Digenic Disease |
|
|
| Choroid Disease |
|
|
| Deafness, Autosomal Recessive 110 |
|
|
| Developmental And Epileptic Encephalopathy 75 |
|
|
| Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome |
|
|
| X-Linked Nonsyndromic Deafness |
|
|
| Pendred Syndrome |
|
|
| Stickler Syndrome |
|
|
| Choroideremia |
|
|
| Deafness, X-Linked 2 |
|
|
| Deafness, Aminoglycoside-Induced |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Waardenburg'S Syndrome |
|
|
| Branchiootorenal Syndrome |
|
|
| Sensory System Disease |
|
|
| Achromatopsia |
|
|
| Leber Plus Disease |
|
|
| Cone Dystrophy |
|
|
| Otosclerosis |
|
|
| Eye Disease |
|
|
| Nervous System Disease |
|
|