Gene Facts External Data Attribution

HGNC Symbol
MYO6 (HGNC:7605) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
myosin VI
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNA22, DFNB37
Alias symbols
KIAA0389
%HI
7.36(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.42(Read more about gnomAD LOEUF score)
Cytoband
6q14.1
Genomic Coordinates
GRCh37/hg19: chr6:76458956-76629254 NCBI Ensembl UCSC
GRCh38/hg38: chr6:75749239-75919537 NCBI Ensembl UCSC
MANE Select Transcript
NM_004999.4 ENST00000369977.8 (Read more about MANE Select)
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 stru... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34542
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)