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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
65
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal bleeding Pathogenic rs80338835, rs80338829 RCV001270545
RCV001270614
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (7 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness Likely pathogenic; Pathogenic rs80338834 RCV004798729
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive Pathogenic rs764139009 RCV000454246
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 16276527
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 27437869
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 25826333
★☆☆☆☆
Found in Text Mining only
Alport Syndrome Alport Syndrome CTD_human_DG 10973259
★☆☆☆☆
Found in Text Mining only
Alport Syndrome Alport Syndrome BEFREE 12819239
★☆☆☆☆
Found in Text Mining only
Alport Syndrome, Autosomal Dominant Alport Syndrome CTD_human_DG 10973259
★☆☆☆☆
Found in Text Mining only
Alport Syndrome, Autosomal Recessive Alport Syndrome CTD_human_DG 10973259
★☆☆☆☆
Found in Text Mining only
Alport Syndrome, X-Linked Alport Syndrome, X-Linked CTD_human_DG 10973259
★☆☆☆☆
Found in Text Mining only
Alport Syndrome, X-Linked Alport Syndrome, X-Linked BEFREE 23144074
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 30872628
★☆☆☆☆
Found in Text Mining only