MYH9: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

MYH9

Aliases

BDPLT6, DFNA17, EPSTS, FTNS, MATINS, MHA, NMHC-II-A, NMMHC-IIA, NMMHCA

Entrez Gene ID

4627

Gene Name

Myosin heavy chain 9

Chromosomal Location

22q12.3

HGNC ID

HGNC:7579

Summary

This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]

RefSeq DNA

NG_011884.2

RefSeq mRNA

NM_002473.6, NM_002473.5

e!Ensembl

Gene	ENSG00000100345
Transcript	ENST00000216181, ENST00000401701, ENST00000456729
Protein	ENSP00000216181, ENSP00000384631, ENSP00000414852

Gene Ontology (GO)

Show/Hide all(57 )

GO ID	Ontology	Function	Evidence	Reference
GO:0001525	Biological process	Angiogenesis	IDA	16403913
GO:0001778	Biological process	Plasma membrane repair	IDA	27325790
GO:0006509	Biological process	Membrane protein ectodomain proteolysis	IDA	16186248
GO:0007229	Biological process	Integrin-mediated signaling pathway	NAS	10822899
GO:0008360	Biological process	Regulation of cell shape	IMP	11029059
GO:0015031	Biological process	Protein transport	IMP	16403913
GO:0030048	Biological process	Actin filament-based movement	IDA	12237319, 15845534
GO:0030220	Biological process	Platelet formation	IMP	12237319
GO:0030224	Biological process	Monocyte differentiation	IEP	1912569
GO:0031032	Biological process	Actomyosin structure organization	IDA	24072716
GO:0031532	Biological process	Actin cytoskeleton reorganization	IMP	15869600
GO:0032418	Biological process	Lysosome localization	IMP	2732579
GO:0032506	Biological process	Cytokinetic process	IMP	15774463
GO:0043534	Biological process	Blood vessel endothelial cell migration	IMP	16403913
GO:0045055	Biological process	Regulated exocytosis	IMP	2732579
GO:0050900	Biological process	Leukocyte migration	NAS	12421915
GO:0070527	Biological process	Platelet aggregation	HMP	23382103
GO:1903919	Biological process	Negative regulation of actin filament severing	IMP	23325791
GO:1905684	Biological process	Regulation of plasma membrane repair	IMP	2732579
GO:0001725	Cellular component	Stress fiber	IDA	7699007, 14508515, 14706930, 15774463, 16403913
GO:0001726	Cellular component	Ruffle	IDA	16403913
GO:0001772	Cellular component	Immunological synapse	IDA	15064761
GO:0001931	Cellular component	Uropod	IDA	15064761
GO:0005634	Cellular component	Nucleus	IDA	14508515
GO:0005737	Cellular component	Cytoplasm	IDA	7699007
GO:0005826	Cellular component	Actomyosin contractile ring	IDA	11029059
GO:0005829	Cellular component	Cytosol	IDA	14508515
GO:0005886	Cellular component	Plasma membrane	IDA	16186248, 16403913
GO:0005886	Cellular component	Plasma membrane	IDA	15064761
GO:0008180	Cellular component	COP9 signalosome	IDA	18850735
GO:0015629	Cellular component	Actin cytoskeleton	IDA	15869600
GO:0016020	Cellular component	Membrane	HDA	19946888
GO:0016460	Cellular component	Myosin II complex	IDA	24072716
GO:0031252	Cellular component	Cell leading edge	IDA	12421915
GO:0032154	Cellular component	Cleavage furrow	IDA	7699007, 14508515
GO:0032991	Cellular component	Protein-containing complex	IDA	12421915
GO:0042641	Cellular component	Actomyosin	IDA	24072716
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 21362503, 23533145
GO:0097513	Cellular component	Myosin II filament	IDA	24072716
GO:0000146	Molecular function	Microfilament motor activity	IDA	12237319, 15845534
GO:0003723	Molecular function	RNA binding	HDA	22681889
GO:0003774	Molecular function	Motor activity	NAS	12421915
GO:0003779	Molecular function	Actin binding	IDA	15065866
GO:0005178	Molecular function	Integrin binding	IDA	10822899
GO:0005515	Molecular function	Protein binding	IPI	2732579, 10822899, 12202484, 12421915, 12577067, 14508515, 14640694, 15479433, 16186248, 16403913, 17925381, 18504258, 20421509, 20603131, 20936779, 22229724, 22483112, 23100250, 24189400, 27325790, 28228547
GO:0005524	Molecular function	ATP binding	IDA	15065866, 15845534
GO:0016887	Molecular function	ATPase activity	IDA	12237319, 24072716
GO:0019904	Molecular function	Protein domain specific binding	IPI	23325791
GO:0030898	Molecular function	Actin-dependent ATPase activity	IDA	15065866, 15845534
GO:0030898	Molecular function	Actin-dependent ATPase activity	IDA	24072716
GO:0042803	Molecular function	Protein homodimerization activity	IDA	12237319
GO:0043495	Molecular function	Protein membrane anchor	IMP	16403913
GO:0043531	Molecular function	ADP binding	IDA	15065866
GO:0045296	Molecular function	Cadherin binding	HDA	25468996
GO:0051015	Molecular function	Actin filament binding	IDA	12237319, 14508515, 15845534
GO:0051015	Molecular function	Actin filament binding	IDA	24072716
GO:0051015	Molecular function	Actin filament binding	NAS	16403913

Protein Information

Protein Name

Myosin-9, cellular myosin heavy chain, type A, myosin, heavy chain 9, non-muscle, non-muscle myosin heavy chain 9, non-muscle myosin heavy chain A, non-muscle myosin heavy chain IIa, non-muscle myosin heavy polypeptide 9, nonmuscle myosin heavy chain II-A

Function

Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10.

Refseq Proteins

NP_002464.1

UniProt

P35579

PDB

2LNK, 3ZWH, 4CFQ, 4CFR, 4ETO

Pfam

Pfam Accession	Pfam ID
PF00063	Myosin_head
PF02736	Myosin_N
PF01576	Myosin_tail_1