Gene table of MYH7 : myosin heavy chain 7

Gene-disease associations table

Disease IDDisease nameSource of annotation with MYH7OMIM linkNumber of associated genesgenes
PS115200DILATED CARDIOMYOPATHYClinVar, OMIM, HUMSAVAR link to OMIM 36MYBPC3, VCL, PSEN2, PLN, LDB3, ACTC1, BAG3, RBM20, CSRP3, RAF1, MYH7, SGCD, TTN, FKTN, CRYAB, NEXN, SDHA, ABCC9, DSG2, ACTN2, TNNT2, GATAD1, EYA4, TNNC1, LAMA4, SCN5A, MYH6, DMD, TPM1, TNNI3, PRDM16, DES, LMNA, TMPO, MYPN, PSEN1
608358MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANTClinVar, OMIM, HUMSAVAR link to OMIM 1MYH7
181430SCAPULOPERONEAL MYOPATHY, MYH7-RELATEDClinVar, OMIM, HUMSAVAR link to OMIM 1MYH7
160500MYOPATHY, DISTAL, 1ClinVar, OMIM, HUMSAVAR link to OMIM 1MYH7
255160MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVEClinVar, OMIM, HUMSAVAR link to OMIM 1MYH7
PS192600CARDIOMYOPATHY, FAMILIAL HYPERTROPHICClinVar, OMIM, HUMSAVAR link to OMIM 25CALR3, JPH2, VCL, TNNC1, LDB3, ACTC1, CSRP3, MYLK2, TTN, MYH7, NEXN, MYOZ2, TCAP, ACTN2, TNNT2, MYL2, MYBPC3, PLN, MYH6, TPM1, TNNI3, MYL3, PRKAG2, MYPN, CAV3
603829VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1ClinVar link to OMIM 13DSP, JPH2, MYH7, VCL, TTN, SNTA1, CACNA1C, RYR2, PKP2, KCNH2, RBM20, SCN5A, JUP
PS604169LEFT VENTRICULAR NONCOMPACTIONClinVar, OMIM, HUMSAVAR link to OMIM 9TPM1, PRDM16, LDB3, MYH7, TNNT2, MYBPC3, ACTC1, DTNA, MIB1
255310MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTIONClinVar link to OMIM 5TPM3, RYR1, ACTA1, SEPN1, MYH7

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Annotation of the gene MYH7

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 626, together with the genes:

Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
cGMP-PKG signaling pathwayhsa040225.32
Cardiac muscle contractionhsa042606.34
Tight junctionhsa045305.53
Hypertrophic cardiomyopathy (HCM)hsa054106.21
Dilated cardiomyopathyhsa054146.08
Adrenergic signaling in cardiomyocyteshsa042615.44
Viral myocarditishsa054166.45
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Membrane TraffickingR-HSA-1999915.26
Translocation of GLUT4 to the plasma membraneR-HSA-14451486.77
Vesicle-mediated transportR-HSA-56536564.33
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
bindingGO:00054880.18
ATPase activityGO:00168873.65
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
microfilament motor activityGO:00001466.65
ATPase activity, coupledGO:00426233.97
nucleotide bindingGO:00001661.96
actin bindingGO:00037793.74
purine nucleoside bindingGO:00018832.22
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
motor activityGO:00037744.81
identical protein bindingGO:00428022.63
protein homodimerization activityGO:00428033.16
hydrolase activityGO:00167871.9
nucleoside-triphosphatase activityGO:00171113.09
actin-dependent ATPase activityGO:00308987.17
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
calmodulin bindingGO:00055164.55
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
cytoskeletal protein bindingGO:00080923.02
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
adenyl nucleotide bindingGO:00305542.4
hydrolase activity, acting on acid anhydridesGO:00168173.03
pyrophosphatase activityGO:00164623.04
adenyl ribonucleotide bindingGO:00325592.41
ATP bindingGO:00055242.43
protein bindingGO:00055150.46
purine ribonucleotide bindingGO:00325552.2
protein dimerization activityGO:00469832.72
protein heterodimerization activityGO:00469823.64
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19