MYO6 Gene (Protein Coding)

Myosin VI

GC06P075749
GIFtS:
47
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 cel... See more...

Aliases for MYO6 Gene

Aliases for MYO6 Gene

  • Myosin VI 2 3 5
  • Unconventional Myosin-VI 3 4
  • Unconventional Myosin-6 3 4
  • Deafness, Autosomal Recessive 37 2
  • KIAA0389 4
  • DFNA22 3
  • DFNB37 3

External Ids for MYO6 Gene

Previous HGNC Symbols for MYO6 Gene

  • DFNA22
  • DFNB37

Previous GeneCards Identifiers for MYO6 Gene

  • GC06P076406
  • GC06P076454
  • GC06P076515
  • GC06P073657

Summaries for MYO6 Gene

Entrez Gene Summary for MYO6 Gene

  • 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]

GeneCards Summary for MYO6 Gene

MYO6 (Myosin VI) is a Protein Coding gene. Diseases associated with MYO6 include Deafness, Autosomal Dominant 22 and Deafness, Autosomal Recessive 37. Among its related pathways are Vesicle-mediated transport and Delta508-CFTR traffic / ER-to-Golgi in CF. Gene Ontology (GO) annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is MYO10.

UniProtKB/Swiss-Prot Summary for MYO6 Gene

  • Myosins are actin-based motor molecules with ATPase activity (By similarity). Unconventional myosins serve in intracellular movements (By similarity). Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments (PubMed:10519557). Has slow rate of actin-activated ADP release due to weak ATP binding (By similarity). Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration (By similarity). Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway (PubMed:16507995). Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells (PubMed:11447109). May act as a regulator of F-actin dynamics (By similarity). May play a role in transporting DAB2 from the plasma membrane to specific cellular targets (By similarity). May play a role in the extension and network organization of neurites (By similarity). Required for structural integrity of inner ear hair cells (By similarity). Modulates RNA polymerase II-dependent transcription (PubMed:16949370).

Gene Wiki entry for MYO6 Gene

Additional gene information for MYO6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYO6 Gene

Genomics for MYO6 Gene

GeneHancer (GH) Regulatory Elements for MYO6 Gene

Promoters and enhancers for MYO6 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J075747 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 755.1 +2.2 2231 7 ZBTB40 SREBF1 POLR2A ZNF362 MNT NKRF ZFX AHR ZNF384 MLLT1 MYO6 SENP6 lnc-IMPG1-2 piR-59425-026
GH06J075749 Enhancer 0.7 ENCODE 750.6 -1.6 -1617 0.2 GATA3 TCF7L2 ZNF217 MTA3 ZNF384 ARID3A CREB1 GATAD2B TARDBP CTBP1 MYO6 lnc-IMPG1-2 ENSG00000285401
GH06J075748 Enhancer 0.7 ENCODE 750.6 -1.4 -1397 0.2 GATA3 TCF7L2 ZNF217 ARID3A CREB1 GATAD2B TARDBP ZNF512 CTBP1 BMI1 MYO6 lnc-IMPG1-2 ENSG00000285401
GH06J075782 Promoter 0.4 EPDnew 750.3 +33.7 33703 0.1 ZNF121 MYO6 RF00026-946 RNU6-155P piR-54987-113
GH06J075830 Enhancer 0.9 Ensembl ENCODE 9.7 +82.1 82095 1.1 ETV6 MLLT1 ZNF687 CREM IKZF1 IKZF2 ZSCAN29 EED DPF2 EGR1 NONHSAG044168.2 MYO6 piR-54987-113
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYO6 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • p53
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for MYO6 Gene

Genomic Locations for MYO6 Gene
chr6:75,749,176-75,919,537
(GRCh38/hg38)
Size:
170,362 bases
Orientation:
Plus strand
chr6:76,458,909-76,629,254
(GRCh37/hg19)
Size:
170,346 bases
Orientation:
Plus strand

Genomic View for MYO6 Gene

Genes around MYO6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MYO6 Gene

Proteins for MYO6 Gene

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  • Protein details for MYO6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UM54-MYO6_HUMAN
    Recommended name:
    Unconventional myosin-VI
    Protein Accession:
    Q9UM54
    Secondary Accessions:
    • A6H8V4
    • E1P540
    • Q5TEM5
    • Q5TEM6
    • Q5TEM7
    • Q9BZZ7
    • Q9UEG2

    Protein attributes for MYO6 Gene

    Size:
    1294 amino acids
    Molecular mass:
    149691 Da
    Quaternary structure:
    • Homodimer; dimerization seems to implicate the unfolding of the three-helix bundle region creating an additional calmodulin binding site, and cargo binding (By similarity). Able to function as a monomer under specific conditions in vitro (PubMed:15044955). Forms a complex with CFTR and DAB2 in the apical membrane of epithelial cells (PubMed:15247260). 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 (By similarity). This interaction occurs only if the C-terminal lobe of calmodulin is occupied by calcium (By similarity). Interaction with F-actin/ACTN1 occurs only at the apical brush border domain of the proximal tubule cells (By similarity). Interacts with DAB2 (PubMed:11967127). In vitro, the C-terminal globular tail binds a C-terminal region of DAB2 (By similarity). Interacts with CFTR (PubMed:15247260). Interacts with OPTN (By similarity). Interacts with CABP5 (By similarity).
    SequenceCaution:
    • Sequence=BAA20843.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYO6 Gene

    Alternative splice isoforms for MYO6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO6 Gene

Protein Expression for MYO6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MYO6 Gene

  • 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).
  • Ubiquitination at Lys425, Lys646, Lys750, Lys755, Lys1076, Lys1141, and Lys1192
  • Modification sites at PhosphoSitePlus

Other Protein References for MYO6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYO6 Gene

Domains & Families for MYO6 Gene

Gene Families for MYO6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MYO6 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYO6 Gene

GenScript: Design optimal peptide antigens:
  • Unconventional myosin-6 (MYO6_HUMAN)
  • Myosin VI (Q5JVM0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UM54

UniProtKB/Swiss-Prot:

MYO6_HUMAN :
  • 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 three-helix bundle region, a SAH domain and a unique globular domain required for interaction with other proteins such as cargo-binding.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
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 three-helix bundle region, a SAH domain and a unique globular domain required for interaction with other proteins such as cargo-binding.
  • The SAH (single alpha-helix) region is characterized by a high content of charged residues which are predicted to stabilize the alpha-helical structure by ionic bonds (PubMed:18511944). Its contribution to the mechanism confering the myosin movement on actin filaments is debated (PubMed:18511944).
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO6: view

Function for MYO6 Gene

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Molecular function for MYO6 Gene

UniProtKB/Swiss-Prot Function:
Myosins are actin-based motor molecules with ATPase activity (By similarity). Unconventional myosins serve in intracellular movements (By similarity). Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments (PubMed:10519557). Has slow rate of actin-activated ADP release due to weak ATP binding (By similarity). Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration (By similarity). Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway (PubMed:16507995). Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells (PubMed:11447109). May act as a regulator of F-actin dynamics (By similarity). May play a role in transporting DAB2 from the plasma membrane to specific cellular targets (By similarity). May play a role in the extension and network organization of neurites (By similarity). Required for structural integrity of inner ear hair cells (By similarity). Modulates RNA polymerase II-dependent transcription (PubMed:16949370).
GENATLAS Biochemistry:
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

Phenotypes From GWAS Catalog for MYO6 Gene

Gene Ontology (GO) - Molecular Function for MYO6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity ISS,IEA --
GO:0003779 actin binding IEA,TAS 10519557
GO:0005515 protein binding IPI 11447109
GO:0005516 calmodulin binding TAS 12857860
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MYO6: view
genes like me logo Genes that share phenotypes with MYO6: view

Human Phenotype Ontology for MYO6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MYO6 Gene

Localization for MYO6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO6 Gene

Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Golgi apparatus. Nucleus. Cytoplasm, perinuclear region. Membrane, clathrin-coated pit. Cytoplasmic vesicle, clathrin-coated vesicle. Cell projection, filopodium. Cell projection, ruffle membrane. Cell projection, microvillus. Cytoplasm, cytosol. Note=Also present in endocyctic vesicles (PubMed:16507995). Translocates from membrane ruffles, endocytic vesicles and cytoplasm to Golgi apparatus, perinuclear membrane and nucleus through induction by p53 and p53-induced DNA damage (PubMed:16507995). Recruited into membrane ruffles from cell surface by EGF-stimulation (PubMed:9852149). Colocalizes with DAB2 in clathrin-coated pits/vesicles (PubMed:11967127). Colocalizes with OPTN at the Golgi complex and in vesicular structures close to the plasma membrane (By similarity). {ECO:0000250 UniProtKB:Q9I8D1, ECO:0000269 PubMed:11967127, ECO:0000269 PubMed:16507995, ECO:0000269 PubMed:9852149}.
Isoform 3: Cytoplasmic vesicle, clathrin-coated vesicle membrane.
Isoform 4: Cytoplasmic vesicle, clathrin-coated vesicle membrane. Cell projection, ruffle membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYO6 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
golgi apparatus 5
plasma membrane 4
cytosol 4
lysosome 4
endosome 1

Gene Ontology (GO) - Cellular Components for MYO6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 9852149
GO:0005634 nucleus IDA,IEA 16507995
GO:0005654 nucleoplasm IDA 16949370
GO:0005737 cytoplasm ISS --
GO:0005765 lysosomal membrane TAS --
genes like me logo Genes that share ontologies with MYO6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYO6 Gene

Pathways & Interactions for MYO6 Gene

PathCards logo

SuperPathways for MYO6 Gene

SuperPathway Contained pathways
1 PAK Pathway
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
Epithelial Adherens Junctions
.36
2 Gap junction trafficking
Gap junction trafficking
.93
Gap junction trafficking and regulation
.93
Gap junction degradation
.01
3 Transmission across Chemical Synapses
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
.67
Transmission across Chemical Synapses
.67
Neuronal System
.62
4 Actin Nucleation by ARP-WASP Complex
Actin Nucleation by ARP-WASP Complex
.66
RhoA Pathway
.35
5 RhoGDI Pathway
Fc-GammaR-Mediated Phagocytosis in Macrophages
.33
RhoGDI Pathway
.33
genes like me logo Genes that share pathways with MYO6: view

Pathways by source for MYO6 Gene

1 KEGG pathway for MYO6 Gene
11 Qiagen pathways for MYO6 Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
1 Cell Signaling Technology pathway for MYO6 Gene

SIGNOR curated interactions for MYO6 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MYO6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport ISS --
GO:0006897 endocytosis ISS --
GO:0007605 sensory perception of sound IEA --
GO:0015031 protein transport IEA --
GO:0030048 actin filament-based movement NAS 10519557
genes like me logo Genes that share ontologies with MYO6: view

Drugs & Compounds for MYO6 Gene

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(4) Drugs for MYO6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773

(2) Additional Compounds for MYO6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYO6: view

Transcripts for MYO6 Gene

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mRNA/cDNA for MYO6 Gene

(9) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(308) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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Alternative Splicing Database (ASD) splice patterns (SP) for MYO6 Gene

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:

Relevant External Links for MYO6 Gene

GeneLoc Exon Structure for
MYO6
ECgene alternative splicing isoforms for
MYO6

Expression for MYO6 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYO6 Gene

mRNA expression in normal human tissues for MYO6 Gene
mRNA expression by BioGPS for MYO6 GenemRNA expression by GTEx for MYO6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MYO6 Gene

This gene is overexpressed in Retina (14.4), Cervix (11.9), Breast (6.3), and Islet of Langerhans (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYO6 Gene



NURSA nuclear receptor signaling pathways regulating expression of MYO6 Gene:

MYO6

SOURCE GeneReport for Unigene cluster for MYO6 Gene:

Hs.149387

mRNA Expression by UniProt/SwissProt for MYO6 Gene:

Q9UM54-MYO6_HUMAN
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.

Evidence on tissue expression from TISSUES for MYO6 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Eye(3.2)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MYO6: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for MYO6 Gene

Orthologs for MYO6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MYO6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MYO6 33 32
  • 99.79 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia MYO6 33
  • 95 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia MYO6 33 32
  • 94.03 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MYO6 33
  • 92 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia MYO6 33 32
  • 91.88 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Myo6 17 33 32
  • 88.48 (n)
rat
(Rattus norvegicus)
 Mammalia Myo6 32
  • 87.5 (n)
chicken
(Gallus gallus)
 Aves MYO6 33 32
  • 81.77 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MYO6 33
  • 92 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia myo6 32
  • 78.1 (n)
zebrafish
(Danio rerio)
 Actinopterygii myo6a 33
  • 81 (a)
 OneToMany
myo6b 33 32
  • 73.26 (n)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta jar 33 34 32
  • 54.09 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000776 32
  • 51.52 (n)
worm
(Caenorhabditis elegans)
 Secernentea hum-8 33 34 32
  • 53.94 (n)
 OneToMany
spe-15 33 34
  • 48 (a)
 OneToMany
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.6031 32
rice
(Oryza sativa)
 Liliopsida Os.22677 32
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.1865 33
  • 59 (a)
 OneToOne
Species where no ortholog for MYO6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYO6 Gene

ENSEMBL:
Gene Tree for MYO6 (if available)
TreeFam:
Gene Tree for MYO6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYO6: view image

Paralogs for MYO6 Gene

Paralogs for MYO6 Gene

(16) SIMAP similar genes for MYO6 Gene using alignment to 3 proteins:

  • MYO6_HUMAN
  • E7EW20_HUMAN
  • Q5JVM0_HUMAN
genes like me logo Genes that share paralogs with MYO6: view

Variants for MYO6 Gene

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Sequence variations from dbSNP and Humsavar for MYO6 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1045758 likely-benign, Nonsyndromic Hearing Loss, Recessive, Nonsyndromic Hearing Loss, Dominant 75,915,471(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs10547766 likely-benign, Nonsyndromic Hearing Loss, Recessive, Nonsyndromic Hearing Loss, Dominant 75,919,435(+) AATTAATT/AATT 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1060499650 uncertain-significance, Deafness, autosomal dominant 22 75,835,951(+) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1060499799 pathogenic, Deafness, autosomal dominant 22 75,844,977(+) G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs111033431 benign, likely-benign, not specified, Nonsyndromic Hearing Loss, Recessive, Nonsyndromic Hearing Loss, Dominant 75,862,705(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for MYO6 Gene

Variant ID Type Subtype PubMed ID
esv2618363 CNV deletion 19546169
esv3576179 CNV gain 25503493
esv3609581 CNV loss 21293372
esv7870 CNV gain 19470904
nsv1032961 CNV gain 25217958

Variation tolerance for MYO6 Gene

Residual Variation Intolerance Score: 4.05% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.28; 62.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYO6 Gene

Human Gene Mutation Database (HGMD)
MYO6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO6 Gene

Disorders for MYO6 Gene

MalaCards: The human disease database

(17) MalaCards diseases for MYO6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal dominant 22
  • dfna22
deafness, autosomal recessive 37
  • dfnb37
non-syndromic genetic deafness
  • isolated genetic deafness
nonsyndromic deafness
  • nonsyndromic hearing loss
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
- elite association - COSMIC cancer census association via MalaCards
Search MYO6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYO6_HUMAN
  • Deafness, autosomal dominant, 22 (DFNA22) [MIM:606346]: A form of non-syndromic 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. {ECO:0000269 PubMed:11468689}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal recessive, 37 (DFNB37) [MIM:607821]: A form of non-syndromic 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. {ECO:0000269 PubMed:12687499}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy (DFNHCM) [MIM:606346]: An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy. {ECO:0000269 PubMed:15060111}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MYO6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for MYO6 Gene

  1. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. (PMID: 11468689) Melchionda S … Gasparini P (American journal of human genetics 2001) 2 3 4 23 56
  2. Nuclear myosin VI enhances RNA polymerase II-dependent transcription. (PMID: 16949370) Vreugde S … Biffo S (Molecular cell 2006) 3 4 23 56
  3. Myosin VI is a mediator of the p53-dependent cell survival pathway. (PMID: 16507995) Jung EJ … Chen X (Molecular and cellular biology 2006) 3 4 23 56
  4. Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator. (PMID: 15247260) Swiatecka-Urban A … Stanton BA (The Journal of biological chemistry 2004) 3 4 23 56
  5. Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6). (PMID: 15060111) Mohiddin SA … Morell RJ (Journal of medical genetics 2004) 3 4 43 56

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