Gene Gene information from NCBI Gene database.
Entrez ID 4627
Gene name Myosin heavy chain 9
Gene symbol MYH9
Synonyms (NCBI Gene)
BDPLT6DFNA17EPSTSFTNSMATINSMHANMHC-II-ANMMHC-IIANMMHCA
Chromosome 22
Chromosome location 22q12.3
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 whic
SNPs SNP information provided by dbSNP.
38
SNP ID Visualize variation Clinical significance Consequence
rs34292387 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs80338826 G>A,T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs80338827 C>T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs80338828 C>T Pathogenic Coding sequence variant, missense variant
rs80338829 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1174
miRTarBase ID miRNA Experiments Reference
MIRT002579 hsa-miR-124-3p Microarray 15685193
MIRT021471 hsa-miR-9-5p Microarray 17612493
MIRT002579 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT002579 hsa-miR-124-3p Microarray 15685193
MIRT049384 hsa-miR-92a-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
USF1 Unknown 11467950
USF2 Unknown 11467950
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
124
GO ID Ontology Definition Evidence Reference
GO:0000146 Function Microfilament motor activity IBA
GO:0000146 Function Microfilament motor activity IDA 24072716
GO:0000146 Function Microfilament motor activity IDA 12237319, 15845534
GO:0000166 Function Nucleotide binding IEA
GO:0000212 Process Meiotic spindle organization IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
160775 7579 ENSG00000100345
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35579
Protein 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)
Protein function Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Required for cortical actin clearance prior to oocyte exocytosis (By similarity). Promotes cell motility in conjunct
PDB 2LNK , 3ZWH , 4CFQ , 4CFR , 4ETO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02736 Myosin_N 29 69 Myosin N-terminal SH3-like domain Domain
PF00063 Myosin_head 83 764 Myosin head (motor domain) Domain
PF01576 Myosin_tail_1 841 1921 Myosin tail Coiled-coil
Tissue specificity TISSUE SPECIFICITY: In the kidney, expressed in the glomeruli. Also expressed in leukocytes. {ECO:0000269|PubMed:11752022, ECO:0000269|PubMed:1912569}.
Sequence
MAQQAADKYLYVDKNFINNPLAQADWAAKKLVWVPSDKSGFEPASLKEEVGEEAIVELVE
NGKKVKVNK
DDIQKMNPPKFSKVEDMAELTCLNEASVLHNLKERYYSGLIYTYSGLFCVV
INPYKNLPIYSEEIVEMYKGKKRHEMPPHIYAITDTAYRSMMQDREDQSILCTGESGAGK
TENTKKVIQYLAYVASSHKSKKDQGELERQLLQANPILEAFGNAKTVKNDNSSRFGKFIR
INFDVNGYIVGANIETYLLEKSRAIRQAKEERTFHIFYYLLSGAGEHLKTDLLLEPYNKY
RFLSNGHVTIPGQQDKDMFQETMEAMRIMGIPEEEQMGLLRVISGVLQLGNIVFKKERNT
DQASMPDNTAAQKVSHLLGINVTDFTRGILTPRIKVGRDYVQKAQTKEQADFAIEALAKA
TYERMFRWLVLRINKALDKTKRQGASFIGILDIAGFEIFDLNSFEQLCINYTNEKLQQLF
NHTMFILEQEEYQREGIEWNFIDFGLDLQPCIDLIEKPAGPPGILALLDEECWFPKATDK
SFVEKVMQEQGTHPKFQKPKQLKDKADFCIIHYAGKVDYKADEWLMKNMDPLNDNIATLL
HQSSDKFVSELWKDVDRIIGLDQVAGMSETALPGAFKTRKGMFRTVGQLYKEQLAKLMAT
LRNTNPNFVRCIIPNHEKKAGKLDPHLVLDQLRCNGVLEGIRICRQGFPNRVVFQEFRQR
YEILTPNSIPKGFMDGKQACVLMIKALELDSNLYRIGQSKVFFR
AGVLAHLEEERDLKIT
DVIIGFQACCRGYLARKAFAKRQQQLTAMKVLQRNCAAYLKLRNWQWWRLFTKVKPLLQV
SRQEEEMMAKEEELVKVREKQLAAENRLTEMETLQSQLMAEKLQLQEQLQAETELCAEAE
ELRARLTAKKQELEEICHDLEARVEEEEERCQHLQAEKKKMQQNIQELEEQLEEEESARQ
KLQLEKVTTEAKLKKLEEEQIILEDQNCKLAKEKKLLEDRIAEFTTNLTEEEEKSKSLAK
LKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTDLSDQIAELQAQIAELKMQLAK
KEEELQAALARVEEEAAQKNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEE
LEALKTELEDTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQEMRQKHSQAVEE
LAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQGKGDSEHKRKKVEAQLQELQVK
FNEGERVRTELADKVTKLQVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEE
NRQKLSLSTKLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVADMKKKMEDSVGCL
ETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQQELDDLLVDLDHQRQSACNLE
KKQKKFDQLLAEEKTISAKYAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNK
QFRTEMEDLMSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDELQATEDAKLRLEV
NLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELEDERKQRSMAVAARKKLEMDLK
DLEAHIDSANKNRDEAIKQLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEA
EMIQLQEELAAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLEARIAQLEEELEE
EQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENARQQLERQNKELKVKLQEMEGT
VKSKYKASITALEAKIAQLEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQ
YKDQADKASTRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETADAMNREVSSLKNK
L
RRGDLPFVVPRRMARKGAGDGSDEEVDGKADGAEAKPAE
Sequence length 1960
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Virion - Lassa virus and SFTS virus
Vascular smooth muscle contraction
Tight junction
Regulation of actin cytoskeleton
Motor proteins
Cytoskeleton in muscle cells
Pathogenic Escherichia coli infection
  Regulation of actin dynamics for phagocytic cup formation
RHO GTPases activate PAKs
CD163 mediating an anti-inflammatory response
FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1313
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Pathogenic rs80338835, rs80338829 RCV001270545
RCV001270614
Autosomal dominant nonsyndromic hearing loss 17 Likely pathogenic; Pathogenic rs727503284, rs80338835, rs80338834, rs80338829, rs80338826, rs80338828, rs80338831, rs121913657, rs990176353, rs2518022633, rs1184544985 RCV005025747
RCV002478429
RCV005031439
RCV002466403
RCV001542710
RCV002490369
RCV000015130
RCV002466404
RCV000477821
RCV004585119
RCV004585120
RCV002507333
Deafness Likely pathogenic; Pathogenic rs80338834 RCV004798729
Hearing loss, autosomal recessive Pathogenic rs764139009 RCV000454246
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Uncertain significance rs76330062, rs367700075 RCV005892590
RCV005935053
Atypical hemolytic-uremic syndrome Benign; Likely benign rs56001030, rs145751072, rs2413396, rs875725, rs11549907, rs141686520, rs80050551 RCV002293991
RCV002293992
RCV002293993
RCV002293996
RCV002293998
RCV002294001
RCV002294002
Capillary infantile hemangioma Uncertain significance rs1430793034 RCV000656460
Cataract 35 Conflicting classifications of pathogenicity rs750944944 RCV005101425
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 29782633
Adenocarcinoma Associate 25826333
Adenocarcinoma of Lung Associate 35296779, 36268014
AIDS Associated Nephropathy Associate 20124285, 22791322, 24658608
Albuminuria Associate 19153477, 26776194
Amyotrophic Lateral Sclerosis Associate 30872628
Anemia Sickle Cell Associate 21910715
Anodontia Associate 20124285
Asthenozoospermia Associate 38099337
Bernard Soulier Syndrome Associate 20635188, 27291889