MYO6 - myosin VI Gene

Homo sapiens

Also known as DFNA22; DFNB37

Gene ID: 4646 | Gene type: protein coding

About MYO6

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:75,749,239-75,919,537 (from NCBI)

This gene has 18 transcripts (splice variants), 260 orthologues, 43 paralogues and is associated with 5 phenotypes. Broad expression in kidney (RPKM 22.2), duodenum (RPKM 13.0) and 23 other tissues.

Summary

This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with Other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

MYO6 Products(9)

mRNA	Protein	Name
NM_001300899.2	NP_001287828.1	unconventional myosin-VI isoform 2
NM_001368136.1	NP_001355065.1	unconventional myosin-VI isoform 3
NM_001368137.1	NP_001355066.1	unconventional myosin-VI isoform 4
NM_001368138.1	NP_001355067.1	unconventional myosin-VI isoform 5
NM_001368139.1	NP_001355068.1	unconventional myosin-VI isoform 6
NM_001368140.1	NP_001355069.1	unconventional myosin-VI isoform 6
NM_001368865.1	NP_001355794.1	unconventional myosin-VI isoform 7
NM_001368866.1	NP_001355795.1	unconventional myosin-VI isoform 8
NM_004999.4	NP_004990.3	unconventional myosin-VI isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables actin filament binding	IDA IDA: Inferred from direct assay	9852149	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	18511944	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11447109	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response, signal transduction by p53 class mediator	IDA IDA: Inferred from direct assay	16507995	GOA
involved in endocytosis	IMP IMP: Inferred from mutant phenotype	15247260	GOA
involved in regulation of secretion	IMP IMP: Inferred from mutant phenotype	15837803	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	16507995	GOA
colocalizes with clathrin-coated endocytic vesicle	IDA IDA: Inferred from direct assay	11447109	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	9852149	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	16507995	GOA
part of filamentous actin	IDA IDA: Inferred from direct assay	9852149	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	16507995	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	16949370	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16507995	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	9852149	GOA
located in ruffle	IDA IDA: Inferred from direct assay	9852149	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MYO6 Protein Structure

Myosin_head

0
200
400
600
800
1000
1200
1285 a.a.

Protein Preferred Names

Protein Names

unconventional myosin-VI

unconventional myosin-6

MYO6 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MYO6	Q9UM54	DAB2	Homo sapiens	P98082	Y2H	11967127
Intra	MYO6	Q9UM54	DAB2	Homo sapiens	P98082	Anti Bait CoIP	11967127
Intra	MYO6	Q9UM54	DAB2	Homo sapiens	P98082	IF	11967127
Cross	MYO6	Q9UM54	Dab2	Mus musculus	P98078	Reverse RRS	11967127
Cross	MYO6	Q9UM54	Dab2	Mus musculus	P98078	Anti Tag CoIP	11967127
Intra	MYO6	Q9UM54	TOM1L2	Homo sapiens	Q6ZVM7	Anti Bait CoIP	23023224
Intra	MYO6	Q9UM54	TOM1L2	Homo sapiens	Q6ZVM7	Anti Tag CoIP	35271311
Intra	MYO6	Q9UM54	TOM1L2	Homo sapiens	Q6ZVM7	Y2H	23023224
Intra	MYO6	Q9UM54	GIPC1	Homo sapiens	O14908	Anti Tag CoIP	35271311
Intra	MYO6	Q9UM54	GIPC1	Homo sapiens	O14908	Pull Down	16908842
Intra	MYO6	Q9UM54	LRCH3	Homo sapiens	Q96II8	Anti Tag CoIP	35271311
Intra	MYO6	Q9UM54	LRCH3	Homo sapiens	Q96II8	Anti Tag CoIP	29467281

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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 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

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Isolated Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna	Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22

Dfna 22

Rare Genetic Deafness

Rare Genetic Hearing Loss

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

Ear Malformation

Cup Ear

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

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

Deafness, Autosomal Recessive 15

DFNB15	Dfnb72
Dfnb95	Deafness, Autosomal Recessive 72
Autosomal Recessive Nonsyndromic Deafness 15	Deafness, Autosomal Recessive 95
Autosomal Recessive Deafness 15	Autosomal Recessive Deafness 72
Autosomal Recessive Deafness 95	Deafness, Autosomal Recessive, 15
Deafness Autosomal Recessive 72	Deafness Autosomal Recessive 95
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 15	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 15
Deafness, Autosomal Recessive, Type 15

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

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 Dominant 15

DFNA15	Autosomal Dominant Nonsyndromic Deafness 15
Autosomal Dominant Deafness 15	Deafness, Autosomal Dominant, 15
Deafness, Autosomal Dominant, Type 15

Cardiomyopathy, Familial Hypertrophic, 2

Hypertrophic Cardiomyopathy 2	CMH2
Cardiomyopathy, Hypertrophic, 2	Cardiomyopathy Familial Hypertrophic 2
Cardiomyopathy, Familial Hypertrophic 2	Cardiomyopathy, Hypertrophic, Familial, Type 2

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

Developmental And Epileptic Encephalopathy 16

DEE16	Epileptic Encephalopathy, Early Infantile, 16
Eiee16	Developmental And Epileptic Encephalopathy, 16
Early Infantile Epileptic Encephalopathy 16	Progressive Myoclonic Epilepsy With Dystonia
Pmed	Progressive Myoclonus Epilepsy With Dystonia
Encephalopathy, Epileptic, Early Infantile, Type 16

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 30

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

Deafness, Autosomal Dominant 16

DFNA16	Autosomal Dominant Nonsyndromic Deafness 16
Autosomal Dominant Deafness 16

Deafness, Autosomal Dominant 21

DFNA21	Autosomal Dominant Nonsyndromic Deafness 21
Autosomal Dominant Deafness 21	Deafness, Autosomal Dominant, 21

Deafness, Autosomal Dominant 7

DFNA7	Autosomal Dominant Nonsyndromic Deafness 7
Autosomal Dominant Deafness 7	Deafness, Autosomal Dominant, 7
Deafness, Autosomal Dominant, Type 7

Deafness, Autosomal Dominant 10

DFNA10	Autosomal Dominant Nonsyndromic Deafness 10
Autosomal Dominant Deafness 10	Deafness, Autosomal Dominant, 10
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10
Deafness, Autosomal Dominant, Type 10

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

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

Y-Linked Deafness

Dfny

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Deafness, Autosomal Dominant 28

DFNA28	Autosomal Dominant Nonsyndromic Deafness 28
Autosomal Dominant Deafness 28	Deafness, Autosomal Dominant, 28
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28
Deafness, Autosomal Dominant, Type 28

Deafness, Autosomal Recessive 102

DFNB102	Autosomal Recessive Nonsyndromic Deafness 102
Autosomal Recessive Deafness 102	Deafness, Autosomal Recessive, 102
Deafness, Autosomal Recessive, Type 102

Deafness, Autosomal Recessive 110

DFNB110	Autosomal Recessive Nonsyndromic Deafness 110
Autosomal Recessive Deafness 110	Deafness, Autosomal Recessive, 110

Auditory System Disease

Ear Diseases

Ear And Mastoid Disease

Deafness, Autosomal Dominant 9

DFNA9	Autosomal Dominant Nonsyndromic Deafness 9
Autosomal Dominant Deafness 9	Deafness, Autosomal Dominant, 9
Deafness, Autosomal Dominant, Type 9

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Recessive 12

DFNB12	Deafness, Autosomal Recessive 12, Modifier Of
Autosomal Recessive Nonsyndromic Deafness 12	Autosomal Recessive Deafness 12
Deafness, Autosomal Recessive, 12	Congenital Neurosensory Deafness Autosomal Recessive 12
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12
Deafness, Autosomal Recessive, Type 12

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

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

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-RS08949	MYO6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MYO6	VGNC	VGNC:31829
Macaca mulatta	MYO6	VGNC	VGNC:75118
Canis familiaris	MYO6	VGNC	VGNC:43571
Rattus norvegicus	MYO6	RGD	RGD:1560646
Felis catus	MYO6	VGNC	VGNC:68398
Mus musculus	MYO6	MGD	MGI:104785