Gene table of MYH9 : myosin heavy chain 9

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MYH9	OMIM link	Number of associated genes	genes
PS231200	BLEEDING DISORDER, PLATELET-TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	21	NBEAL2, ANO6, GP1BA, ITGA2, GFI1B, ITGA2B, PLAU, PRKACG, P2RY12, ACTN1, TBXAS1, P2RX1, GP6, CD36, SLFN14, ITGB3, GP9, GP1BB, RASGRP2, TBXA2R, MYH9
153650	EPSTEIN SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MYH9
PS124900	DEAFNESS, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	33	GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, GRHL2, MYH14, TNC, MYH9
600208	MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS	OMIM, HUMSAVAR	link to OMIM	1	MYH9
605249	SEBASTIAN SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MYH9
153640	FECHTNER SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MYH9

Download the gene annotation in CSV format

Annotation of the gene MYH9

Associated genes in ENSEMBL

ENSG00000100345

Associated proteins - SwissProt Accession ID

P35579

Associated PDB IDs

Cytogenetic Band

22q12.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Tight junction	hsa04530	5.53
Salmonella infection	hsa05132	6.29
Regulation of actin cytoskeleton	hsa04810	4.9

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
RHO GTPases activate CIT	R-HSA-5625900	8.98
RHO GTPases activate PKNs	R-HSA-5625740	7.1
Sema4D induced cell migration and growth-cone collapse	R-HSA-416572	8.4
Fcgamma receptor (FCGR) dependent phagocytosis	R-HSA-2029480	5.07
Sema4D in semaphorin signaling	R-HSA-400685	8.23
Regulation of actin dynamics for phagocytic cup formation	R-HSA-2029482	5.23
Innate Immune System	R-HSA-168249	3.17
Immune System	R-HSA-168256	2.37
RHO GTPases Activate ROCKs	R-HSA-5627117	8.89
EPHA-mediated growth cone collapse	R-HSA-3928663	7.89
Signaling by Rho GTPases	R-HSA-194315	4.43
RHO GTPase Effectors	R-HSA-195258	4.94
Signal Transduction	R-HSA-162582	1.78
Semaphorin interactions	R-HSA-373755	6.92
Axon guidance	R-HSA-422475	3.93
EPH-Ephrin signaling	R-HSA-2682334	6.43
Developmental Biology	R-HSA-1266738	3.48
RHO GTPases activate PAKs	R-HSA-5627123	8.59

Associated GO terms for Molecular function

GO term	GO ID	GO IC
nucleic acid binding	GO:0003676	1.44
purine ribonucleoside triphosphate binding	GO:0035639	2.22
protein anchor	GO:0043495	7.66
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
purine nucleoside binding	GO:0001883	2.22
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
identical protein binding	GO:0042802	2.63
nucleoside phosphate binding	GO:1901265	1.96
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
protein homodimerization activity	GO:0042803	3.16
hydrolase activity	GO:0016787	1.9
poly(A) RNA binding	GO:0044822	2.69
nucleoside-triphosphatase activity	GO:0017111	3.09
actin filament binding	GO:0051015	4.93
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
actin-dependent ATPase activity	GO:0030898	7.17
ADP binding	GO:0043531	6.24
calmodulin binding	GO:0005516	4.55
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
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
pyrophosphatase activity	GO:0016462	3.04
adenyl ribonucleotide binding	GO:0032559	2.41
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
protein dimerization activity	GO:0046983	2.72
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
protein domain specific binding	GO:0019904	3.32