Gene table of MYH3 : myosin heavy chain 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MYH3	OMIM link	Number of associated genes	genes
178110	ARTHROGRYPOSIS, DISTAL, TYPE 8	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MYH3
601680	ARTHROGRYPOSIS, DISTAL, TYPE 2B	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	MYH3, TPM2, TNNI2, TNNT3
193700	ARTHROGRYPOSIS, DISTAL, TYPE 2A	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MYH3

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Annotation of the gene MYH3

Associated genes in ENSEMBL

ENSG00000109063

Associated proteins - SwissProt Accession ID

P11055

Associated PDB IDs

Cytogenetic Band

17p13.1

Tandem repeats annotation

The gene is in the tandem Group 742, together with the genes:

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Tight junction	hsa04530	5.53

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Membrane Trafficking	R-HSA-199991	5.26
Muscle contraction	R-HSA-397014	6.96
Striated Muscle Contraction	R-HSA-390522	7.81
Translocation of GLUT4 to the plasma membrane	R-HSA-1445148	6.77
Vesicle-mediated transport	R-HSA-5653656	4.33

Associated GO terms for Molecular function

GO term	GO ID	GO IC
phosphatase activity	GO:0016791	4.11
hydrolase activity	GO:0016787	1.9
purine ribonucleoside triphosphate binding	GO:0035639	2.22
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
phosphoric ester hydrolase activity	GO:0042578	3.82
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
microfilament motor activity	GO:0000146	6.65
ATPase activity, coupled	GO:0042623	3.97
nucleotide binding	GO:0000166	1.96
actin binding	GO:0003779	3.74
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
protein complex binding	GO:0032403	3.09
purine nucleotide binding	GO:0017076	2.19
motor activity	GO:0003774	4.81
ATP binding	GO:0005524	2.43
myosin phosphatase activity	GO:0017018	8.35
nucleoside-triphosphatase activity	GO:0017111	3.09
hydrolase activity, acting on ester bonds	GO:0016788	3.1
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
actin filament binding	GO:0051015	4.93
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
cytoskeletal protein binding	GO:0008092	3.02
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
adenyl nucleotide binding	GO:0030554	2.4
protein serine/threonine phosphatase activity	GO:0004722	5.58
phosphoprotein phosphatase activity	GO:0004721	4.55
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
calmodulin binding	GO:0005516	4.55
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19