• Gene id: 4627

Gene Summary

• Gene Symbol: MYH9   Gene   UCSC   Ensembl
• Aliases: BDPLT6, DFNA17, EPSTS, FTNS, MATINS, MHA, NMHC-II-A, NMMHC-IIA, NMMHCA
• Gene name: myosin heavy chain 9
• Alternate names: 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,
• Gene location: 22q12.3 (36387966: 36281279)     Exons: 41     NC_000022.11
• Gene summary(Entrez): 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 whic
• OMIM: 169615

Protein Summary

• Protein general information: P35579  
  • Name: Myosin 9 (Cellular myosin heavy chain, type A) (Myosin heavy chain 9) (Myosin heavy chain, non muscle IIa) (Non muscle myosin heavy chain A) (NMMHC A) (Non muscle myosin heavy chain IIa) (NMMHC II a) (NMMHC IIA)
  • Length: 1960  
  • Mass: 226532
  • Tissue specificity: In the kidney, expressed in the glomeruli. Also expressed in leukocytes. {ECO
• Sequence:

  MAQQAADKYLYVDKNFINNPLAQADWAAKKLVWVPSDKSGFEPASLKEEVGEEAIVELVENGKKVKVNKDDIQKM
  NPPKFSKVEDMAELTCLNEASVLHNLKERYYSGLIYTYSGLFCVVINPYKNLPIYSEEIVEMYKGKKRHEMPPHI
  YAITDTAYRSMMQDREDQSILCTGESGAGKTENTKKVIQYLAYVASSHKSKKDQGELERQLLQANPILEAFGNAK
  TVKNDNSSRFGKFIRINFDVNGYIVGANIETYLLEKSRAIRQAKEERTFHIFYYLLSGAGEHLKTDLLLEPYNKY
  RFLSNGHVTIPGQQDKDMFQETMEAMRIMGIPEEEQMGLLRVISGVLQLGNIVFKKERNTDQASMPDNTAAQKVS
  HLLGINVTDFTRGILTPRIKVGRDYVQKAQTKEQADFAIEALAKATYERMFRWLVLRINKALDKTKRQGASFIGI
  LDIAGFEIFDLNSFEQLCINYTNEKLQQLFNHTMFILEQEEYQREGIEWNFIDFGLDLQPCIDLIEKPAGPPGIL
  ALLDEECWFPKATDKSFVEKVMQEQGTHPKFQKPKQLKDKADFCIIHYAGKVDYKADEWLMKNMDPLNDNIATLL
  HQSSDKFVSELWKDVDRIIGLDQVAGMSETALPGAFKTRKGMFRTVGQLYKEQLAKLMATLRNTNPNFVRCIIPN
  HEKKAGKLDPHLVLDQLRCNGVLEGIRICRQGFPNRVVFQEFRQRYEILTPNSIPKGFMDGKQACVLMIKALELD
  SNLYRIGQSKVFFRAGVLAHLEEERDLKITDVIIGFQACCRGYLARKAFAKRQQQLTAMKVLQRNCAAYLKLRNW
  QWWRLFTKVKPLLQVSRQEEEMMAKEEELVKVREKQLAAENRLTEMETLQSQLMAEKLQLQEQLQAETELCAEAE
  ELRARLTAKKQELEEICHDLEARVEEEEERCQHLQAEKKKMQQNIQELEEQLEEEESARQKLQLEKVTTEAKLKK
  LEEEQIILEDQNCKLAKEKKLLEDRIAEFTTNLTEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTR
  RKLEGDSTDLSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQKNMALKKIRELESQISELQEDLESERA
  SRNKAEKQKRDLGEELEALKTELEDTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQEMRQKHSQAVEE
  LAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQGKGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKV
  TKLQVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLSTKLKQVEDEKNSFREQLEEEEE
  AKHNLEKQIATLHAQVADMKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQQELDDL
  LVDLDHQRQSACNLEKKQKKFDQLLAEEKTISAKYAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNK
  QFRTEMEDLMSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDELQATEDAKLRLEVNLQAMKAQFERDLQG
  RDEQSEEKKKQLVRQVREMEAELEDERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIKQLRKLQAQMKDC
  MRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQEELAAAERAKRQAQQERDELADEIANSSGKGALALEEKR
  RLEARIAQLEEELEEEQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENARQQLERQNKELKVKLQEMEGT
  VKSKYKASITALEAKIAQLEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQYKDQADKASTRLKQL
  KRQLEEAEEEAQRANASRRKLQRELEDATETADAMNREVSSLKNKLRRGDLPFVVPRRMARKGAGDGSDEEVDGK
  ADGAEAKPAE

• Structural information:
  • Protein Domains: (27..7-)
    SH3-like (/note="Myosin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01190-)
    (81..77-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (779..80-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE--)
  • Interpro: IPR000048  IPR036961  IPR001609  IPR027401  IPR004009   IPR008989  IPR002928  IPR027417  IPR036305  
  • Prosite: PS50096 PS51456 PS51844
  • PDB: 2LNK 3ZWH 4CFQ 4CFR 4ETO
  • PDBsum: 2LNK 3ZWH 4CFQ 4CFR 4ETO
  • DIP: 33103
  • STRING: ENSP00000216181
• Other Databases: GeneCards:  MYH9  Malacards:  MYH9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008180	COP9 signalosome	IDA	colocalizes with
GO:0001778	plasma membrane repair	IDA	biological process
GO:1905684	regulation of plasma membrane repair	IMP	biological process
GO:0045055	regulated exocytosis	IMP	biological process
GO:0032418	lysosome localization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003774	motor activity	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0008360	regulation of cell shape	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0051015	actin filament binding	IDA	molecular function
GO:0030048	actin filament-based movement	IDA	biological process
GO:0003779	actin binding	IDA	molecular function
GO:0001931	uropod	IDA	cellular component
GO:0001772	immunological synapse	IDA	colocalizes with
GO:0000146	microfilament motor activity	IDA	molecular function
GO:0043531	ADP binding	IDA	molecular function
GO:0030898	actin-dependent ATPase activity	IDA	molecular function
GO:0030898	actin-dependent ATPase activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0005524	ATP binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0001725	stress fiber	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903923	positive regulation of protein processing in phagocytic vesicle	IEA	biological process
GO:0032796	uropod organization	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0030863	cortical cytoskeleton	IEA	cellular component
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0007520	myoblast fusion	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0006911	phagocytosis, engulfment	IEA	biological process
GO:0005925	focal adhesion	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001725	stress fiber	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0000904	cell morphogenesis involved in differentiation	IEA	biological process
GO:0000212	meiotic spindle organization	IEA	biological process
GO:1903919	negative regulation of actin filament severing	IEA	biological process
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0051295	establishment of meiotic spindle localization	IEA	biological process
GO:0016460	myosin II complex	IEA	cellular component
GO:0008360	regulation of cell shape	IEA	biological process
GO:0005938	cell cortex	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0001931	uropod	IEA	cellular component
GO:0001772	immunological synapse	IEA	cellular component
GO:0001768	establishment of T cell polarity	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0005938	cell cortex	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051015	actin filament binding	IDA	contributes to
GO:0042641	actomyosin	IDA	cellular component
GO:0031032	actomyosin structure organization	IDA	biological process
GO:0016460	myosin II complex	IDA	cellular component
GO:0097513	myosin II filament	IDA	cellular component
GO:0030898	actin-dependent ATPase activity	IDA	contributes to
GO:0016887	ATPase activity	IDA	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0001726	ruffle	IDA	cellular component
GO:0001525	angiogenesis	IDA	biological process
GO:0031252	cell leading edge	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0001725	stress fiber	IDA	cellular component
GO:0051015	actin filament binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0030048	actin filament-based movement	IDA	biological process
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0006509	membrane protein ectodomain proteolysis	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0000146	microfilament motor activity	IDA	molecular function
GO:0032154	cleavage furrow	IDA	cellular component
GO:0032154	cleavage furrow	IDA	cellular component
GO:0016887	ATPase activity	IDA	molecular function
GO:0005178	integrin binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005826	actomyosin contractile ring	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0001725	stress fiber	IDA	cellular component
GO:0001725	stress fiber	IDA	cellular component
GO:0001725	stress fiber	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	ISS	colocalizes with
GO:0006911	phagocytosis, engulfment	ISS	biological process
GO:0070527	platelet aggregation	HMP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903919	negative regulation of actin filament severing	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051015	actin filament binding	NAS	molecular function
GO:0050900	leukocyte migration	NAS	biological process
GO:0030220	platelet formation	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0007229	integrin-mediated signaling pathway	NAS	biological process
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903919	negative regulation of actin filament severing	IMP	biological process
GO:0043495	protein-membrane adaptor activity	IMP	molecular function
GO:0003774	motor activity	NAS	molecular function
GO:1903923	positive regulation of protein processing in phagocytic vesicle	ISS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0043534	blood vessel endothelial cell migration	IMP	biological process
GO:0031532	actin cytoskeleton reorganization	IMP	biological process
GO:0030224	monocyte differentiation	IEP	biological process
GO:0015031	protein transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032506	cytokinetic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa04530	Tight junction

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Macrothrombocytopenia	KEGG:H01740
Epstein syndrome	KEGG:H00578
May-Hegglin anomaly	KEGG:H02051
Sebastian syndrome	KEGG:H02052
Fechtner syndrome	KEGG:H02053
Deafness, autosomal dominant	KEGG:H00604
Macrothrombocytopenia	KEGG:H01740
MYH9-related disease	KEGG:H00233
Epstein syndrome	KEGG:H00578
May-Hegglin anomaly	KEGG:H02051
Sebastian syndrome	KEGG:H02052
Fechtner syndrome	KEGG:H02053
Orofacial cleft	PMID:19891592
Orofacial cleft	PMID:17337617
Orofacial cleft	PMID:19320731
Orofacial cleft	PMID:18716610
Alport syndrome	PMID:12500226
Sensorineural hearing loss	PMID:26226608
Thrombocytopenia	PMID:10973259
Proteinuria	PMID:20200500
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R