MYO3A - myosin IIIA Gene

Homo sapiens

Also known as DFNB30

Gene ID: 53904 | Gene type: protein coding

About MYO3A

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:25,934,229-26,212,532 (from NCBI)

This gene has 10 transcripts (splice variants), 195 orthologues, 43 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 1.4), skin (RPKM 0.2) and 4 other tissues.

Summary

The protein encoded by this gene belongs to the Myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]

MYO3A Products(2)

mRNA	Protein	Name
NM_001368265.1	NP_001355194.1	myosin-IIIa isoform 2
NM_017433.5	NP_059129.3	myosin-IIIa isoform 1

MYO3A Protein Structure

Pkinase

Myosin_head

0
300
600
900
1200
1500
1616 a.a.

Protein Preferred Names

Protein Names

myosin-IIIa

epididymis secretory sperm binding protein

Related Diseases

Diseases

Alias

Deafness, Autosomal Recessive 30

DFNB30	Autosomal Recessive Nonsyndromic Deafness 30
Autosomal Recessive Deafness 30	Deafness, Autosomal Recessive, 30
Deafness, Autosomal Recessive, Type 30

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Non-Syndromic Genetic Deafness

Nonsyndromic Genetic Hearing Loss	Isolated Genetic Deafness
Isolated Genetic Hearing Loss	Non-Syndromic Genetic Hearing Loss

Nonsyndromic Hearing Loss

Nonsyndromic Deafness	Nonsyndromic Hearing Impairment
Nonsyndromic Hearing Loss And Deafness	Deafness, Nonsyndromic
Isolated Deafness

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb	Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Deafness, Autosomal Recessive 37

DFNB37	Autosomal Recessive Nonsyndromic Deafness 37
Autosomal Recessive Deafness 37	Deafness, Autosomal Recessive, 37
Congenital Neurosensory Deafness Autosomal Recessive 37	Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37	Deafness, Autosomal Recessive, Type 37

Deafness, Autosomal Dominant 48

DFNA48	Autosomal Dominant Nonsyndromic Deafness 48
Autosomal Dominant Deafness 48	Deafness, Autosomal Dominant, 48
Deafness Autosomal Dominant Due To Mutation In Myo1a	Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48	Deafness, Autosomal Dominant, Type 48

Deafness, Autosomal Recessive 77

DFNB77	Autosomal Recessive Nonsyndromic Deafness 77
Autosomal Recessive Deafness 77	Deafness, Autosomal Recessive, 77
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 77	Deafness, Autosomal Recessive, Type 77

Deafness, Autosomal Dominant 22

DFNA22	Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy
Autosomal Dominant Nonsyndromic Deafness 22	Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome
Autosomal Dominant Deafness 22	Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome
Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome	Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome
DFNHCM	Deafness, Autosomal Dominant, 22
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22
Deafness, Autosomal Dominant, Type 22	Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Deafness, Autosomal Dominant 17

DFNA17	Autosomal Dominant Nonsyndromic Deafness 17
Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17	Autosomal Dominant Deafness 17
Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration	Nonsyndromic Hereditary Deafness Dfna17
Deafness, Autosomal Dominant, 17	Cochleosaccular Degeneration
Deafness, Autosomal Dominant, Type 17	Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts

Autosomal Recessive Nonsyndromic Deafness 3

Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3	Dfnb3
Nrsd3	Deafness, Autosomal Recessive 3

Deafness, Autosomal Dominant 11

DFNA11	Autosomal Dominant Nonsyndromic Deafness 11
Autosomal Dominant Deafness 11	Deafness, Autosomal Dominant, 11
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11	Deafness, Autosomal Dominant, Type 11

Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

Enlarged Vestibular Aqueduct	DFNB4
Neurosensory Nonsyndromic Recessive Deafness 4	Enlarged Vestibular Aqueduct Syndrome
Nsrd4	Autosomal Recessive Nonsyndromic Deafness 4
Dilated Vestibular Aqueduct	Dva
Enlarged Vestibular Aqueduct, Digenic	Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
Large Vestibular Aqueduct Syndrome	Deafness, Autosomal Recessive, 4
Deafness Neurosensory Autosomal Recessive 4	Eva
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4
Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

Deafness, Autosomal Recessive 2

DFNB2	Neurosensory Nonsyndromic Recessive Deafness 2
Nsrd2	Autosomal Recessive Nonsyndromic Deafness 2
Deafness, Autosomal Recessive, Type 2	Autosomal Recessive Deafness 2
Deafness, Autosomal Recessive, 2	Deafness Neurosensory Autosomal Recessive 2
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2
Deafness, Autosomal Recessive 2, Neurosensory

Deafness, Autosomal Recessive 79

DFNB79	Autosomal Recessive Nonsyndromic Deafness 79
Autosomal Recessive Deafness 79	Deafness, Autosomal Recessive, 79
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 79	Deafness, Autosomal Recessive, Type 79

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Erythrokeratodermia Variabilis Et Progressiva 1

Erythrokeratodermia Variabilis	Erythrokeratodermia Variabilis Et Progressiva
Greither Disease	Ekv
Ekvp	PSEK
Erythrokeratodermia Variabilis With Erythema Gyratum Repens	Keratosis Palmoplantaris Transgrediens Et Progrediens
Transgrediens Et Progrediens Palmoplantar Keratoderma	EKVP1
Erythrokeratodermia, Progressive Symmetric	Erythrokeratodermia Figurata, Congenital Familial, In Plaques
Keratoderma Palmoplantaris Transgrediens	Keratosis Extremitatum Hereditaria Progrediens
Erythrokeratodermia Variabilis, Mendes Da Costa Type	Progressive Symmetric Erythrokeratodermia
Erythrokeratodermia Figurata Variabilis	Greither'S Disease
Ekv-P	Erythrokeratodermia Variabilis Of Mendes Da Costa
Progressive Symmetrical Erythrokeratoderma Of Gottron	Progressive Diffuse Ppk
Progressive Diffuse Palmoplantar Keratoderma	Transgrediens Et Progrediens Ppk
Darier-Gottron Disease	Erythrokeratodermia Progressiva Symmetrica
Progressive Symmetric Erythrokeratodermia, Gottron Type	Congenital Familial Erythrokeratodermia Figurata In Plaques
Erythrokeratodermia Progressive Symmetric	Erythrokeratodermia Variabilis Mendes Da Costa Type

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Usher Syndrome, Type I

USH1	Usher Syndrome Type 1
Us1	Usher Syndrome, Type 1b
Usher Syndrome Type 1e	Retinitis Pigmentosa And Congenital Deafness
Usher Syndrome, Type Ie	USH1E
Usher Syndrome, Type 1e	Usher Syndrome, Type 1a
Usher Syndrome, Type Ib	Usher Syndrome Type 1b
Usher Syndrome Type Ie	Usher Syndrome Type I
Usher 1	Usher Syndrome, Type 1
Ush1a	Usher Syndrome, Type I, French Variety
Usher Syndrome, Type Ia	Usher Syndrome 1b
USH1B	Usher'S Syndrome Type 1b
Usher Syndrome Type Ib	Ushib

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Usher Syndrome Type 2

Ush2	Usher Syndrome Type Ii

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08944	MYO3A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	MYO3A	VGNC	VGNC:43567
Macaca mulatta	MYO3A	VGNC	VGNC:75115
Mus musculus	MYO3A	MGD	MGI:2183924
Rattus norvegicus	MYO3A	RGD	RGD:1560083
Bos taurus	MYO3A	VGNC	VGNC:31824
Felis catus	MYO3A	VGNC	VGNC:68395

Name
Email *

	Sorry, but the email address you supplied was invalid.