Gene table of MYH2 : myosin heavy chain 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MYH2	OMIM link	Number of associated genes	genes
605637	MYOPATHY, PROXIMAL, AND OPHTHALMOPLEGIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MYH2

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

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
Fcgamma receptor (FCGR) dependent phagocytosis	R-HSA-2029480	5.07
Regulation of actin dynamics for phagocytic cup formation	R-HSA-2029482	5.23
Immune System	R-HSA-168256	2.37
Innate Immune System	R-HSA-168249	3.17
Membrane Trafficking	R-HSA-199991	5.26
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
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
microfilament motor activity	GO:0000146	6.65
nucleotide binding	GO:0000166	1.96
actin binding	GO:0003779	3.74
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
motor activity	GO:0003774	4.81
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
cytoskeletal protein binding	GO:0008092	3.02
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
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