Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4627
Gene name Gene Name - the full gene name approved by the HGNC.
Myosin heavy chain 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYH9
Synonyms (NCBI Gene) Gene synonyms aliases
BDPLT6, DFNA17, EPSTS, FTNS, MATINS, MHA, NMHC-II-A, NMMHC-IIA, NMMHCA
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
USF1 Unknown 11467950
USF2 Unknown 11467950
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
160775 7579 ENSG00000100345
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal dominant nonsyndromic hearing loss 17 rs80338828, rs80338834, rs80338829, rs80338831, rs121913657 N/A
Macrothrombocytopenia Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss rs2146392848, rs80338830, rs80338835, rs80338828, rs797044804, rs587776808, rs80338827, rs1321659356, rs80338834, rs80338831, rs1184544985, rs80338829, rs1603484047, rs1603484048, rs121913655
View all (4 more)
N/A
thrombocytopenia Thrombocytopenia rs80338831 N/A
deafness Deafness rs80338834 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
focal segmental glomerulosclerosis Focal segmental glomerulosclerosis N/A N/A ClinVar
Glomerulonephritis glomerulonephritis N/A N/A ClinVar
hearing impairment Hearing impairment N/A N/A ClinVar
Hemangioma Capillary infantile hemangioma N/A N/A ClinVar
Associations from Text Mining Disease 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