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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYO6 Gene

protein-coding GIFtS: 67
GCID: GC06P076515

myosin VI

(Previous names: deafness, autosomal recessive 37 )
(Previous symbols: DFNA22, DFNB37)

Explore 20 diseases affiliated with
MYO6 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Myosin VI¹ ²		Unconventional Myosin-6² ³
DFNA22¹ ² ⁵		Deafness, Autosomal Recessive 37¹
DFNB37¹ ² ⁵		Myosin-VI¹
KIAA0389¹ ³		Unconventional Myosin-VI²

External Ids:	HGNC: 7605¹	Entrez Gene: 4646²	Ensembl: ENSG00000196586⁷	OMIM: 600970⁵	UniProtKB: Q9UM54³

Export aliases for MYO6 gene to outside databases

Previous GC identifers: GC06P076406 GC06P076454 GC06P073657

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MYO6:

This gene encodes a protein involved intracellular vesicle and organelle transport, especially in the hair cell of the

inner ear. Mutations in this gene have been found in patients with non-syndromic autosomal dominant and recessive

hearing loss. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MYO6_HUMAN, Q9UM54

Function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular

movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow

rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as

vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via

the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated endocytosis

in polarized epithelial cells. May act as a regulator of F-actin dynamics. May play a role in transporting DAB2 from

the plasma membrane to specific cellular targets. Required for structural integrity of inner ear hair cells (By

similarity)

Gene Wiki entry for MYO6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007299.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYO6 gene promoter:
AP-2alpha isoform 3 p53 AP-2alpha isoform 2 POU2F1b POU2F1a AP-2alpha isoform 4 POU2F1c AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYO6 promoter sequence

Search SABiosciences Chromatin IP Primers for MYO6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYO6

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q13 Ensembl cytogenetic band: 6q14.1 HGNC cytogenetic band: 6q14.1

MYO6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYO6 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P076515: view genomic region (about GC identifiers)

Start:	76,458,909 bp from pter	End:	76,629,254 bp from pter
Size:	170,346 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MYO6_HUMAN, Q9UM54 (See protein sequence)

Recommended Name: Unconventional myosin-VI

Size: 1294 amino acids; 149691 Da

Subunit: Homodimer. Binding to calmodulin through a unique insert, not found in other myosins, located in the neck

region between the motor domain and the IQ domain appears to contribute to the directionality reversal. This

interaction occurs only if the C-terminal lobe of calmodulin is occupied by calcium. Interaction with F-actin/ACTN1

occurs only at the apical brush border domain of the proximal tubule cells (By similarity). Interacts with DAB2. In

vitro, the C-terminal globular tail binds a C-terminal region of DAB2. Interacts with CFTR. Forms a complex with CFTR

and DAB2 in the apical membrane of epithelial cells. Interacts with OPTN (By similarity)

Subcellular location: Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Golgi apparatus (By

similarity). Nucleus. Cytoplasm, perinuclear region. Membrane, clathrin-coated pit. Cell projection, ruffle membrane;

Peripheral membrane protein. Note=Also present in endocyctic vesicles, and membrane ruffles. Translocates from

membrane ruffles, endocytic vesicles and cytoplasm to Golgi apparatus, perinuclear membrane and nucleus through

induction by p53 and p53-induced DNA damage. Recruited into membrane ruffles from cell surface by EGF-stimulation.

Colocalizes with DAB2 in clathrin-coated pits/vesicles. Colocalizes with OPTN at the Golgi complex and in vesicular

structures close to the plasma membrane (By similarity)

Subcellular location: Isoform 3: Cytoplasmic vesicle, clathrin-coated vesicle membrane

Subcellular location: Isoform 4: Cytoplasmic vesicle, clathrin-coated vesicle membrane. Cell projection, ruffle

membrane

Caution: Represents a unconventional myosin. This protein should not be confused with the conventional myosin-6 (MYH6)

Sequence caution: Sequence=BAA20843.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: A6H8V4 E1P540 Q5TEM5 Q5TEM6 Q5TEM7 Q9BZZ7 Q9UEG2

Alternative splicing: 6 isoforms: Q9UM54-3 Q9UM54-1 Q9UM54-2 Q9UM54-4 Q9UM54-5 Q9UM54-6

Explore the universe of human proteins at neXtProt for MYO6: NX_Q9UM54

Post-translational modifications:

Phosphorylation in the motor domain, induced by EGF, results in translocation of MYO6 from the cell surface to membrane

ruffles and affects F-actin dynamics. Phosphorylated in vitro by p21-activated kinase (PAK) (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UM54

MYO6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004990.3

ENSEMBL proteins:

ENSP00000359002 ENSP00000358994 ENSP00000358992 ENSP00000399406 ENSP00000358998

Reactome Protein details: Q9UM54
Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MYO6

Gene Ontology (GO): 5/28 cellular component terms (GO ID links to tree view) (see all 28): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001726	ruffle	IDA	9852149
GO:0005624	membrane fraction	--	--
GO:0005634	nucleus	IDA	16507995
GO:0005654	nucleoplasm	IDA	16948370
GO:0005737	cytoplasm	ISS	--

MYO6 for ontologies About GeneDecksing

MYO6 Antibody Products:

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	GenScript Custom Superior Antibodies Services for MYO6
	Novus Biologicals MYO6 Antibody
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	Uscn Antibodies for MYO6
	Search ThermoFisher Antibodies for MYO6

Assay Products for MYO6:

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	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for MYO6
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MYO6

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MYO6 for domains About GeneDecksing

2 InterPro domains/families:

IPR000048 IQ_motif_EF-hand-BS

IPR001609 Myosin_head_motor_dom

Graphical View of Domain Structure for InterPro Entry Q9UM54

ProtoNet protein and cluster: Q9UM54

1 Blocks protein family: IPB000048 IQ calmodulin-binding region

UniProtKB/Swiss-Prot: MYO6_HUMAN, Q9UM54

Domain: Divided into three regions: a N-terminal motor (head) domain, followed by a neck domain consisting of a

calmodulin-binding linker domain and a single IQ motif, and a C-terminal tail region with a coiled-coil and a unique

globular domain required for interaction with other proteins

Similarity: Contains 1 IQ domain

Similarity: Contains 1 myosin head-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MYO6_HUMAN, Q9UM54

Function: Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular

movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow

rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as

vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via

the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated endocytosis

in polarized epithelial cells. May act as a regulator of F-actin dynamics. May play a role in transporting DAB2 from

the plasma membrane to specific cellular targets. Required for structural integrity of inner ear hair cells (By

myosin 6,unconventional,motor contractile protein moving in the reverse duection,toward the "minus" end of actin

track,apparently non filamentous,mouse Myo6 ortholog responsible for deafness in Snell waltzer mice expressed in fetal

cochlea (articular plate of hair cells) and brain

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		Browse SwitchGear 3'UTR luciferase reporter plasmids

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO6

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003774	motor activity	ISS	--
GO:0003779	actin binding	TAS	10519557
GO:0005515	protein binding	IPI	--
GO:0005516	calmodulin binding	TAS	12857860
GO:0005524	ATP binding	IEA	--

MYO6 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for MYO6:

Decreased POU5F1-GFP protein e

Decreased focal adhesion (FA)

Animal Models:
15 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Myo6):

adipose tissue	behavior/neurological	craniofacial	endocrine/exocrine gland	growth/size
hearing/vestibular/ear	homeostasis/metabolism	immune system	integument	mortality/aging
nervous system	other	reproductive system	skeleton	vision/eye

MYO6 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Clathrin-dependent protein traffic

	Clathrin-dependent protein traffic	1.00			wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)	0.35
	Transport_Clathrin-coated vesicle cycle	0.66

Transmission across Chemical Synapses

	Transmission across Chemical Synapses	1.00			Neuronal System	0.67
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	0.72

PAK Pathway

	PAK Pathway	1.00			Epithelial Adherens Junctions	0.36
	Antioxidant Action of Vitamin-C	0.56

Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity

Trafficking of AMPA receptors

1.00

Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity

1.00

Fc-GammaR-Mediated Phagocytosis in Macrophages

Fc-GammaR-Mediated Phagocytosis in Macrophages

1.00

RhoGDI Pathway

0.33

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for MYO6

Clathrin-dependent protein traffic

5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MYO6 (see all 11)

	RhoA Pathway
	Antioxidant Action of Vitamin-C
	Transendothelial Migration of Leukocytes
	Actin Nucleation by ARP-WASP Complex
	Epithelial Adherens Junctions

1 Cell Signaling Technology (CST) Pathway for MYO6

Cytoskeletal Signaling

2 GeneGo (Thomson Reuters) Pathways for MYO6

	wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
	Transport Clathrin-coated vesicle cycle

1 BioSystems Pathway for MYO6

Stabilization and expansion of the E-cadherin adherens junction

5/10 Reactome Pathways for MYO6 (see all 10)

	Gap junction degradation
	Membrane Trafficking
	Transmission across Chemical Synapses
	Gap junction trafficking and regulation
	Neuronal System

MYO6 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MYO6

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/93 Interacting proteins for MYO6 (Q9UM54^{1, 2, 3} ENSP00000358994⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 93)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DAB2	P98082¹^,³, ENSP00000313391⁴	EBI-350606,EBI-1171238 I2D: score=2 STRING: ENSP00000313391
RNF11	Q9Y3C5²^,³	MINT-60870 I2D: score=3
IKBKE	Q14164²^,³	MINT-48112 I2D: score=2
IKBKG	Q9Y6K9²^,³	MINT-48183 I2D: score=2
MAP3K3	Q99759²^,³	MINT-48455 I2D: score=2

About this table

Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006605	protein targeting	IEA	--
GO:0006886	intracellular protein transport	ISS	--
GO:0006897	endocytosis	ISS	--
GO:0007268	synaptic transmission	TAS	--
GO:0007416	synapse assembly	IEA	--

MYO6 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MYO6 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MYO6

1 HMDB Compound for MYO6 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

6 Novoseek chemical compound relationships for MYO6 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adp	50.5	11	15123708 (2), 17510632 (2), 18509050 (2), 11423557 (1) (see all 7)
atp	39.1	10	11517222 (2), 18046460 (2), 15247304 (1), 15006355 (1) (see all 7)
calcium	0	4	12682054 (2), 17846066 (1), 15037754 (1)
threonine	0	2	9603982 (1), 10820029 (1)
glutamate	0	2	15657400 (1), 19895665 (1)
serine	0	2	9603982 (1), 10820029 (1)

Search CenterWatch for drugs/clinical trials and news about MYO6

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MYO6 gene:

NM_004999.3

Unigene Cluster for MYO6:

Myosin VI

Hs.149387 [show with all ESTs]

Unigene Representative Sequence: NM_004999

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000369985 ENST00000369977 ENST00000369975 ENST00000462633 ENST00000430435

ENST00000369981(uc003pig.1 uc003pih.1 uc003pii.1 uc003pij.1)

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Additional cDNA sequence:

AB002387.1 AK095294.1 BC012598.1 BC146764.1 BX647397.1 L29145.1 U90236.2

9 DOTS entries:

DT.444939 DT.91728773 DT.91772645 DT.100787939 DT.100787938 DT.100787943 DT.100787941 DT.86851904

DT.97814114

24/308 AceView cDNA sequences (see all 308):

AU134536 BM929375 CB157945 AA235474 AK095294 AA503650 BM053103 AI925526

BX098122 CK820155 BE695025 AI812025 H88672 BM126805 AI921929 AW772270

NM_004999 AA429372 AA365146 BM142412 CN482866 AI318048 AI304536 AW513273

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for MYO6 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^
SP1:
SP2:
SP3:

ExUns:	27	^	28	^	29	^	30	^	31	^	32a	·	32b	^	33a	·	33b	·	33c
SP1:			-								-
SP2:									-		-
SP3:

ECgene alternative splicing isoforms for MYO6

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MYO6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGTCGCTGG

About this image
See MYO6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MYO6

SOURCE GeneReport for Unigene cluster: Hs.149387

UniProtKB/Swiss-Prot: MYO6_HUMAN, Q9UM54

Tissue specificity: Expressed in most tissues examined including heart, brain, placenta, pancreas, spleen, thymus,

prostate, testis, ovary, small intestine and colon. Highest levels in brain, pancreas, testis and small intestine.

Also expressed in fetal brain and cochlea. Isoform 1 and isoform 2, containing the small insert, and isoform 4,

containing neither insert, are expressed in unpolarized epithelial cells

SABiosciences Custom PCR Arrays for MYO6

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYO6

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for MYO6 gene from 8/30 species (see all 30) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MYO6¹	myosin VI	81.77(n) 90.6(a)		395487 NM_204735.1 NP_990066.1
lizard (Anolis carolinensis)	Reptilia	MYO6⁶ --	--	91(a) 15(a)	1 ↔ 1 possible ortholog	1(201031828-201132341) AAWZ02038245(5337-10973)
African clawed frog (Xenopus laevis)	Amphibia	BQ728062.1²	--	78.61(n)		BQ728062.1
zebrafish (Danio rerio)	Actinopterygii	myo6b¹	myosin VIb	73.29(n) 83.81(a)		445472 NM_001004110.1 NP_001004110.1
fruit fly (Drosophila melanogaster)	Insecta	jar^{1 , 3}	pseudocleavage (sensu Insecta) actin binding³ jaguar¹	51(a)³ 54.06(n)¹ 53.28(a)¹		95F6³ 42889¹ NM_001014650.2¹ NP_001014650.2¹
worm (Caenorhabditis elegans)	Secernentea	spe-15^{1 , 3}	Protein SPE-15¹	50(a) (best of 2)³ 53.09(n)¹ 49.79(a)¹		I(1446667-1465215)³ 171712¹ NM_058455.2¹ NP_490856.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	VIIIB⁶ VIIIA⁶ (see all 4)	myosin heavy chain-like protein P-loop containing nucleoside triphosphate hydrolas... (see all 4)	25(a) 24(a) (see all 4)	many ↔ many many ↔ many (see all 4)	4(13694881-13700780) 1(18649747-18657376)
rice (Oryza sativa)	Liliopsida	Os.22677²	Oryza sativa (japonica cultivar-group) cDNA clone0 more	74.65(n)		NM_195849.1

ENSEMBL Gene Tree for MYO6 (if available)
TreeFam Gene Tree for MYO6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MYO6 gene

MYO3A² MYO9A² MYO5C² MYO10² MYO15A² MYO7A² MYO9B² MYO16²

MYO5A² MYO7B² MYO5B² MYO3B²

16 SIMAP similar genes for MYO6 using alignment to 3 protein entries: MYO6_HUMAN (see all proteins):

MYO5C MYO10 MYO19 MYO1E MYO1A MYH9

MYO1B MYH11 MYO1D MYO1F MYH10 MYH2

MYO5B MYO7A MYO5A MYO1C

MYO6 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11756446^1,2	C,F,H,	non-pathogenic	73775250(+)	`GACGAC/TGAAGG`	2	D	syn¹ ese³		4		NS NA EU	6025
rs2295936^1,2	C,F,H,	non-pathogenic	73795487(+)	`CAACCC/TGAATG`	1	--	int¹		18		NA NS EA EU	3240
rs12210963^1,2	C,F,H,	non-pathogenic	76545684(+)	`GCTAAT/CTTTTC`	1	--	int¹		19		NS EA NA WA CSA EU	3547
rs111033431^1,2	C,F,	probable-non-pathogenic	73771362(+)	`CACAAG/AGATCA`	2	/K	syn¹		2		WA NA	4666
rs41269323^1,2	C,F,	probable-non-pathogenic	73823308(+)	`AGGACG/AACATG`	2	/N /D	mis¹		4		NA NS EU	5933
rs201698962^1,2	C	--	73655634(-)	`TTTTTG/TTTTGC`	1	--	us2k¹		0	--	--	--	--
rs34817569^1,2	C	--	73656405(+)	`CTTTGG/TTTCTC`	1	--	us2k¹		0	--	--	--	--
rs9352241^1,2	C,F,A,	--	73656972(+)	`GGCAGC/TCCAGT`	1	--	us2k¹		3		NA	124
rs112721311^1,2	C,	--	73657323(+)	`GGCTCC/TGCGCC`	1	--	us2k¹		1		NA	2
rs13200021^1,2	C,F,H	--	73657527(+)	`TGTCCG/TAGCAG`	1	--	ut5¹		4		NS NA	488

HapMap Linkage Disequilibrium report for MYO6 (76458909 - 76629254 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for MYO6
1 CNV: 99594
1 Indel: 60604
Human Gene Mutation Database (HGMD): MYO6

Locus Specific Mutation Databases (LSDB): MYO6

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MYO6

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MYO6 for disorders           About GeneDecksing

OMIM gene information: 600970
OMIM disorders: 606346  607821
UniProtKB/Swiss-Prot: MYO6_HUMAN, Q9UM54

Defects in MYO6 are the cause of deafness autosomal dominant type 22 (DFNA22) [MIM:606346]. DFNA22 is a form

of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear,

the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA22 is progressive and

postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have

profound sensorineural deafness

Defects in MYO6 are the cause of deafness autosomal recessive type 37 (DFNB37) [MIM:607821]

Defects in MYO6 are the cause of deafness sensorineural with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]

20 diseases for MYO6: About MalaCards

deafness, autosomal recessive 37 deafness, autosomal dominant 22 deafness, autosomal dominant 22, with hypertrophic cardiomyopathy hearing loss

hypertrophic cardiomyopathy sensorineural hearing loss cerebrovascular accident cardiomyopathy

renal cell carcinoma cystic fibrosis ovarian cancer fibrosis

influenza prostate carcinoma prostatitis prostate cancer

breast cancer carcinoma malaria neuronitis

2 diseases from the University of Copenhagen DISEASES database for MYO6:

Sensorineural hearing loss Nonsyndromic deafness

4 Novoseek disease relationships for MYO6 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
deafness sensorineural	35.8	2	16507995 (1), 15123708 (1)
stroke	17.9	9	15044955 (3), 17182734 (2), 15473855 (1), 18046460 (1) (see all 6)
tumors	1.27	2	17071605 (1), 20353999 (1)
ovarian cancer	0	3	15146066 (2), 16713372 (1)

Genetic Association Database (GAD): MYO6
Human Genome Epidemiology (HuGE) Navigator: MYO6 (5 documents)

Export disorders for MYO6 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MYO6 gene, integrated from 9 sources (see all 172):
(articles sorted by number of sources associating them with MYO6)

Utopia: connect your pdf to the dynamic
world of online information

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. (PubMed id 11468689)^{1, 2, 3, 9} Melchionda S.... Gasparini P. (2001)
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6). (PubMed id 15060111)^{1, 2, 4} Mohiddin S.A.... Morell R.J. (2004)
Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice. (PubMed id 9259267)^{1, 2, 3} Avraham K.B.... Jenkins N.A. (1997)
Myosin VI is a mediator of the p53-dependent cell survival pathway. (PubMed id 16507995)^{1, 2, 9} Jung E.J.... Chen X. (2006)
Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator. (PubMed id 15247260)^{1, 2, 9} Swiatecka-Urban A.... Stanton B.A. (2004)
Myosin VI isoform localized to clathrin-coated vesicles with a role in clathrin-mediated endocytosis. (PubMed id 11447109)^{1, 2, 9} Buss F.... Kendrick-Jones J. (2001)
Nuclear myosin VI enhances RNA polymerase II-dependent transcription. (PubMed id 16949370)^{1, 2, 9} Vreugde S.... Biffo S. (2006)
A monomeric myosin VI with a large working stroke. (PubMed id 15044955)^{1, 2, 9} Lister I....Kendrick-Jones J. (2004)
Myosin VI is an actin-based motor that moves backwards. (PubMed id 10519557)^{1, 2, 9} Wells A.L.... Sweeney H.L. (1999)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)^{1, 2} Kimura K.... Sugano S. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4646	HGNC: 7605	AceView: MYO6	Ensembl:ENSG00000196586	euGenes: HUgn4646
ECgene: MYO6	H-InvDB: MYO6

(According to HUGE)
About This Section

HUGE: KIAA0389

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MYO6	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MYO6 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MYO6 gene:
Search GeneIP for patents involving MYO6

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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