MYO6 - myosin VI Gene

Also Known as DFNA22; DFNB37

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4646

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	Verweise	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	Verweise	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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

MYO6 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P810901	MYO6 Antibody	WB, ICC/IF	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS08949	MYO6 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MYO6	NCBI