MYH7B (myosin heavy chain 7B)

2014-11-01  

Identity

HGNC
LOCATION
20q11.22
LOCUSID
ALIAS
MHC14,MYH14
FUSION GENES

Other Information

Locus ID:

NCBI: 57644
MIM: 609928
HGNC: 15906
Ensembl: ENSG00000078814

Variants:

dbSNP: 57644
ClinVar: 57644
TCGA: ENSG00000078814
COSMIC: MYH7B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000078814ENST00000262873A7E2Y1
ENSG00000078814ENST00000433934Q5JW47
ENSG00000078814ENST00000435272Q5JW49
ENSG00000078814ENST00000446156Q5JW48
ENSG00000078814ENST00000453028Q5JW46
ENSG00000078814ENST00000456649Q5JW45
ENSG00000078814ENST00000618182A0A087X0T3

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Translocation of GLUT4 to the plasma membraneREACTOMER-HSA-1445148

References

Pubmed IDYearTitleCitations
363346272023Functional divergence of the sarcomeric myosin, MYH7b, supports species-specific biological roles.10
369634942023Distinct effects of two hearing loss-associated mutations in the sarcomeric myosin MYH7b.1
363346272023Functional divergence of the sarcomeric myosin, MYH7b, supports species-specific biological roles.10
369634942023Distinct effects of two hearing loss-associated mutations in the sarcomeric myosin MYH7b.1
338951322021Myosin 7b is a regulatory long noncoding RNA (lncMYH7b) in the human heart.10
338951322021Myosin 7b is a regulatory long noncoding RNA (lncMYH7b) in the human heart.10
276669692016Myosin-7b Promotes Distal Tip Localization of the Intermicrovillar Adhesion Complex.31
276669692016Myosin-7b Promotes Distal Tip Localization of the Intermicrovillar Adhesion Complex.31
238002892013Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.20
238002892013Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.20
199486552010Two novel/ancient myosins in mammalian skeletal muscles: MYH14/7b and MYH15 are expressed in extraocular muscles and muscle spindles.67
201541442010Uncoupling of expression of an intronic microRNA and its myosin host gene by exon skipping.72
202243052010Modest association of malignant melanoma with the rs910873 and rs1885120 markers on chromosome 20: a population-based study.1
205206192010Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population.44
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15

Citation

Dessen P

MYH7B (myosin heavy chain 7B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70610/img/gene-fusions/?id=70610