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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 (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 Transmission across Chemical Synapses and Pathogenic Escherichia coli infection. Gene Ontology (GO) annotations related to this gene include actin binding and actin filament binding. An important paralog of this gene is MYO7A.
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 | 605.1 | +2.2 | 2215 | 7 | RNF2 PRDM10 ZNF512 POLR2A ZNF692 BACH1 TARDBP FOXA1 LARP7 ZIC2 | MYO6 SENP6 lnc-IMPG1-2 piR-59425-026 IMPG1 | |
GH06J075748 | Enhancer | 0.7 | ENCODE | 600.7 | -1.4 | -1413 | 0.2 | ARID3A ZNF512 TARDBP ZHX2 ATF7 BMI1 CTBP1 CHD1 FOSL1 CUX1 | MYO6 lnc-IMPG1-2 ENSG00000285401 SENP6 | |
GH06J075749 | Enhancer | 0.7 | ENCODE | 600.7 | -1.6 | -1633 | 0.2 | CREB1 ARID3A TARDBP ZHX2 FOXA1 ATF7 ZNF512B BMI1 CTBP1 CHD1 | MYO6 lnc-IMPG1-2 ENSG00000285401 SENP6 | |
GH06J075782 | Promoter | 0.4 | EPDnew | 600.3 | +33.7 | 33687 | 0.1 | ZNF121 | MYO6 RF00026-946 RNU6-155P piR-54987-113 IMPG1 | |
GH06J075830 | Enhancer | 0.9 | Ensembl ENCODE | 9.7 | +82.1 | 82079 | 1.1 | TCF12 IKZF2 EED ARID3A ZSCAN29 DPF2 RELB EGR1 RUNX3 BCLAF1 | NONHSAG044168.2 MYO6 piR-54987-113 IMPG1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000146 | microfilament motor activity | IBA | 21873635 |
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003774 | motor activity | IEA,ISS | -- |
GO:0003779 | actin binding | IEA,TAS | 10519557 |
GO:0005515 | protein binding | IPI | 11447109 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001726 | ruffle | IBA,IDA | 9852149 |
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 16507995 |
GO:0005654 | nucleoplasm | IDA | 16949370 |
GO:0005737 | cytoplasm | IBA,ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | PAK Pathway |
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
|
Epithelial Adherens Junctions
.36
|
2 | Gap junction trafficking | ||
3 | Transmission across Chemical Synapses |
.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
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006886 | intracellular protein transport | ISS | -- |
GO:0006897 | endocytosis | IBA,ISS | -- |
GO:0007015 | actin filament organization | IBA | 21873635 |
GO:0007605 | sensory perception of sound | IEA | -- |
GO:0015031 | protein transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MYO6 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MYO6 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYO6 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MYO6 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MYO6 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Myo6 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Myo6 30 |
|
||
Chicken (Gallus gallus) |
Aves | MYO6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MYO6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | myo6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | myo6a 31 |
|
OneToMany | |
myo6b 30 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | jar 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000776 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | hum-8 30 31 32 |
|
OneToMany | |
spe-15 31 32 |
|
OneToMany | |||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.6031 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os.22677 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1865 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
666726 | Likely Benign: not specified | 75,817,639(+) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
666727 | Likely Benign: not specified | 75,908,608(+) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
667278 | Uncertain Significance: not specified | 75,857,137(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
667279 | Uncertain Significance: not specified | 75,886,898(+) | T/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
667280 | Uncertain Significance: not specified | 75,890,177(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal dominant 22 |
|
|
deafness, autosomal recessive 37 |
|
|
rare genetic deafness |
|
|
autosomal dominant non-syndromic sensorineural deafness type dfna |
|
|
autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|