MYH9 (myosin heavy chain 9) - Rat Genome Database

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Gene: MYH9 (myosin heavy chain 9) Homo sapiens
Analyze
Symbol: MYH9
Name: myosin heavy chain 9
RGD ID: 732401
HGNC Page HGNC:7579
Description: Enables several functions, including adenyl ribonucleotide binding activity; protein homodimerization activity; and virus receptor activity. Contributes to actin filament binding activity and microfilament motor activity. Involved in several processes, including myeloid cell differentiation; negative regulation of actin filament severing; and plasma membrane repair. Acts upstream of or within actin filament-based movement. Located in several cellular components, including actin cytoskeleton; immunological synapse; and nucleus. Part of myosin II complex. Is active in cell surface. Implicated in several diseases, including auditory system disease (multiple); autosomal dominant Alport syndrome; blood platelet disease (multiple); end stage renal disease; and orofacial cleft. Biomarker of MYH-9 related disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BDPLT6; cellular myosin heavy chain, type A; DFNA17; EPSTS; FTNS; MATINS; MGC104539; MHA; MYH9 variant protein; myosin heavy chain, non-muscle IIa; myosin, heavy chain 9, non-muscle; myosin, heavy polypeptide 9; myosin-9; NMHC-II-A; NMMHC II-a; NMMHC-A; NMMHC-IIA; NMMHCA; 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; nonmuscle myosin IIA2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382236,281,280 - 36,387,967 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2236,281,280 - 36,388,010 (-)EnsemblGRCh38hg38GRCh38
GRCh372236,677,326 - 36,784,012 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362235,007,272 - 35,113,927 (-)NCBINCBI36Build 36hg18NCBI36
Build 342235,001,826 - 35,108,481NCBI
Celera2220,479,895 - 20,586,681 (-)NCBICelera
Cytogenetic Map22q12.3NCBI
HuRef2219,645,404 - 19,752,216 (-)NCBIHuRef
CHM1_12236,636,447 - 36,743,196 (-)NCBICHM1_1
T2T-CHM13v2.02236,741,430 - 36,848,142 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Original Reference(s)
MYH9HumanAIDS-Associated Nephropathy  IEP 6903274protein:decreased expression:glomerulusRGD 
MYH9HumanAlbuminuria  IAGP 6903241associated with hypertension and DNA:SNPs: :RGD 
MYH9Humanautosomal dominant Alport syndrome  IAGP 6902925DNA:missense mutation:exon:4270G>C and D1424H (human)RGD 
MYH9HumanCarotid Artery Injuries  ISOMyh9 (Rattus norvegicus)11533926protein:increased expression:carotid artery:RGD 
MYH9Humanchronic kidney disease no_associationIAGP 12798515 RGD 
MYH9Humanend stage renal disease  IAGP 6903239associated with hypertension and DNA:polymorphisms:multiple:RGD 
MYH9Humanend stage renal disease  IAGP 6903256associated with diabetes mellitus more ...RGD 
MYH9Humanend stage renal disease  IAGP 6903243DNA:SNPs:multiple:RGD 
MYH9Humanend stage renal disease  IAGP 6903237associated with hypertension more ...RGD 
MYH9Humanend stage renal disease  IAGP 6903238associated with diabetes mellitus more ...RGD 
MYH9Humanfocal segmental glomerulosclerosis  ISOMyh9 (Mus musculus)6903254 RGD 
MYH9Humanhuman immunodeficiency virus infectious disease  ISOMyh9 (Mus musculus)6903274protein:decreased expression:glomerulusRGD 
MYH9Humanmetabolic acidosis  ISOMyh9 (Rattus norvegicus)7243154protein:increased expression:brush border membraneRGD 
MYH9HumanMYH-9 related disease  IAGP 6902926DNA:missense mutation:exon:p.R702H(human)RGD 
MYH9HumanMYH-9 related disease  IEP 11532766protein:increased expression:neutrophil:RGD 
MYH9HumanMYH-9 related disease  IAGP 11532766DNA:mutation:exon:p.E1841K(human)RGD 
MYH9HumanMYH-9 related disease  ISOMyh9 (Mus musculus)11533924DNA:mutation:cds:p.R702C(mouse)RGD 
MYH9HumanMYH-9 related disease  IAGP 6903235DNA:missense mutations:exons:multipleRGD 
MYH9HumanNonsyndromic Sensorineural Hearing Loss  IAGP 11533925DNA:mutation:cds:p.R705H(human)RGD 
MYH9Humanorofacial cleft  IAGP 12798509DNA:SNPsRGD 
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MYH9Humanadenylosuccinase lyase deficiency  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Adenylosuccinate lyase deficiencyClinVarPMID:28492532
MYH9Humanatypical hemolytic-uremic syndrome  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Atypical hemolytic-uremic syndromeClinVarPMID:24033266 more ...
MYH9Humanatypical hemolytic-uremic syndrome  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Atypical hemolytic-uremic syndromeClinVarPMID:24033266 more ...
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:24033266 more ...
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Deafness and autosomal dominant 17ClinVarPMID:25741868 more ...
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:25741868 and PMID:28492532
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVar 
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:28492532
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Deafness and autosomal dominant 17ClinVarPMID:24033266 more ...
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Deafness and autosomal dominant 17ClinVarPMID:18059020 more ...
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17ClinVarPMID:11590545 more ...
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degenerationClinVarPMID:24033266 more ...
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degenerationClinVarPMID:16818291 more ...
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Deafness and autosomal dominant 17ClinVarPMID:10973259 more ...
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:24033266 and PMID:28492532
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17ClinVarPMID:11159552 more ...
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVarPMID:24033266 more ...
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar more ...ClinVarPMID:24033266
MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Deafness and autosomal dominant 17ClinVarPMID:28492532 and PMID:32757236
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MYH9HumanAlport syndrome  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:10973259
MYH9Humanautosomal dominant nonsyndromic deafness 17  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
MYH9Humanbasal cell carcinoma  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:36428691
MYH9Humanbreast lobular carcinoma  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:28650484
MYH9HumanBreast Neoplasms  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:28650484
MYH9Humanend stage renal disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:18794854 and PMID:18794856
MYH9Humanfocal segmental glomerulosclerosis  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:18794856
MYH9HumanMYH-9 related disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:10973259 more ...
MYH9HumanMYH-9 related disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:12621333
MYH9HumanNeoplasm Invasiveness  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:28650484
MYH9Humanrenal hypertension  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:18794856
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MYH9HumanMYH-9 related disease  ISSMyh9 (Mus musculus)13592920OMIM:155100MouseDO 
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MYH9Humanautosomal dominant nonsyndromic deafness 17  IAGP 7240710 OMIM 
MYH9HumanMYH-9 related disease  IAGP 7240710 OMIM 

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MYH9Human(+)-schisandrin B multiple interactionsISOMyh9 (Rattus norvegicus)6480464schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of MYH9 mRNA]CTDPMID:31150632
MYH9Human1,1-dichloroethene increases expressionISOMyh9 (Mus musculus)6480464vinylidene chloride results in increased expression of MYH9 mRNACTDPMID:26682919
MYH9Human1,2-dichloroethane increases expressionISOMyh9 (Mus musculus)6480464ethylene dichloride results in increased expression of MYH9 mRNACTDPMID:28960355
MYH9Human1,2-dimethylhydrazine multiple interactionsISOMyh9 (Mus musculus)6480464[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of MYH9 mRNACTDPMID:22206623
MYH9Human1-chloro-2,4-dinitrobenzene increases metabolic processingEXP 6480464Dinitrochlorobenzene results in increased metabolism of MYH9 proteinCTDPMID:29267982
MYH9Human1-chloro-2,4-dinitrobenzene affects bindingEXP 6480464Dinitrochlorobenzene binds to MYH9 proteinCTDPMID:32991956
MYH9Human1-naphthyl isothiocyanate increases expressionISOMyh9 (Rattus norvegicus)64804641-Naphthylisothiocyanate results in increased expression of MYH9 mRNACTDPMID:30723492
MYH9Human17beta-estradiol increases expressionEXP 6480464Estradiol results in increased expression of MYH9 mRNACTDPMID:20106945 more ...
MYH9Human17beta-estradiol increases expressionISOMyh9 (Mus musculus)6480464Estradiol results in increased expression of MYH9 mRNACTDPMID:39298647
MYH9Human17beta-estradiol multiple interactionsEXP 6480464[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of MYH9 mRNA and [Estradiol co-treated with TGFB1 protein] results in increased expression of MYH9 mRNACTDPMID:20823114 and PMID:30165855
MYH9Human17beta-estradiol 3-benzoate increases methylationISOMyh9 (Rattus norvegicus)6480464estradiol 3-benzoate results in increased methylation of MYH9 promoterCTDPMID:27415467
MYH9Human2,3',4,4',5-Pentachlorobiphenyl increases expressionISOMyh9 (Rattus norvegicus)64804642 more ...CTDPMID:32895711
MYH9Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISOMyh9 (Mus musculus)6480464Tetrachlorodibenzodioxin results in increased expression of MYH9 mRNACTDPMID:19770486
MYH9Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOMyh9 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of MYH9 mRNA and Tetrachlorodibenzodioxin results in decreased expression of MYH9 proteinCTDPMID:16054898 more ...
MYH9Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISOMyh9 (Mus musculus)6480464[blebbistatin results in decreased activity of MYH9 protein] promotes the reaction [Tetrachlorodibenzodioxin results in increased expression of CYP1A1 mRNA]CTDPMID:21216307
MYH9Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISOMyh9 (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of MYH9 mRNACTDPMID:21570461
MYH9Human2,6-dimethoxyphenol multiple interactionsEXP 6480464[Furaldehyde co-treated with pyrogallol 1 more ...CTDPMID:38598786
MYH9Human2,6-dinitrotoluene affects expressionISOMyh9 (Rattus norvegicus)64804642 and 6-dinitrotoluene affects the expression of MYH9 mRNACTDPMID:21346803
MYH9Human2-hydroxypropanoic acid increases expressionEXP 6480464Lactic Acid results in increased expression of MYH9 mRNACTDPMID:30851411
MYH9Human2-methylcholine affects expressionEXP 6480464beta-methylcholine affects the expression of MYH9 mRNACTDPMID:21179406

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Biological Process
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Original Reference(s)
MYH9Humanactin cytoskeleton organization involved_inIMP 150520179 PMID:15869600UniProtPMID:15869600
MYH9Humanactin filament bundle assembly  ISOMyh9 (Rattus norvegicus)9068941 RGDPMID:22992457 and REF_RGD_ID:12798526
MYH9Humanactin filament bundle distribution  ISOMyh9 (Rattus norvegicus)9068941 RGDPMID:22992457 and REF_RGD_ID:12798526
MYH9Humanactin filament capping NOT|involved_inISOMyh9 (Mus musculus)9068941 PMID:23325791UniProtPMID:23325791
MYH9Humanactin filament polymerization NOT|involved_inISOMyh9 (Mus musculus)9068941 PMID:23325791UniProtPMID:23325791
MYH9Humanactin filament-based movement acts_upstream_of_or_withinIDA 150520179 PMID:15845534MGIPMID:15845534
MYH9Humanactin filament-based movement involved_inIDA 150520179 PMID:12237319UniProtPMID:12237319
MYH9Humanactomyosin structure organization involved_inIDA 150520179 PMID:24072716UniProtPMID:24072716
MYH9Humanangiogenesis involved_inIDA 150520179 PMID:16403913UniProtPMID:16403913
MYH9Humanblood vessel endothelial cell migration involved_inIMP 150520179 PMID:16403913UniProtPMID:16403913
MYH9Humancell adhesion involved_inIEAUniProtKB-KW:KW-0130150520179 UniProtGO_REF:0000043
MYH9Humancell adhesion acts_upstream_of_or_withinIEAUniProtKB:Q8VDD5 and ensembl:ENSMUSP00000016771150520179 EnsemblGO_REF:0000107
MYH9Humancell morphogenesis involved_inIEAUniProtKB:Q8VDD5 and ensembl:ENSMUSP00000016771150520179 EnsemblGO_REF:0000107
MYH9Humancell motility acts_upstream_of_or_withinIEAUniProtKB:Q8VDD5 and ensembl:ENSMUSP00000016771150520179 EnsemblGO_REF:0000107
MYH9Humancell-cell adhesion  ISOMyh9 (Rattus norvegicus)9068941 RGDPMID:21598299 and REF_RGD_ID:12798522
MYH9Humancell-cell adhesion acts_upstream_of_or_withinIEAUniProtKB:Q8VDD5 and ensembl:ENSMUSP00000016771150520179 EnsemblGO_REF:0000107
MYH9Humancellular response to mechanical stimulus  ISOMyh9 (Rattus norvegicus)9068941 RGDPMID:8888698 and REF_RGD_ID:11533927
MYH9Humancellular response to platelet-derived growth factor stimulus  ISOMyh9 (Rattus norvegicus)9068941 RGDPMID:8888698 and REF_RGD_ID:11533927
MYH9Humancortical granule exocytosis involved_inIEAUniProtKB:Q8VDD5 and ensembl:ENSMUSP00000016771150520179 EnsemblGO_REF:0000107
MYH9Humancortical granule exocytosis involved_inISSUniProtKB:Q8VDD5150520179 UniProtGO_REF:0000024
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Cellular Component
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MYH9Humanactin cytoskeleton located_inIDA 150520179 PMID:15869600HPAGO_REF:0000052 and PMID:15869600
MYH9Humanactin filament  ISOMyh9 (Rattus norvegicus)9068941 RGDPMID:21598299 and REF_RGD_ID:12798522
MYH9Humanactomyosin located_inIDA 150520179 PMID:24072716UniProtPMID:24072716
MYH9Humanactomyosin contractile ring located_inIDA 150520179 PMID:11029059UniProtPMID:11029059
MYH9Humanadherens junction located_inIEAUniProtKB:Q8VDD5 and ensembl:ENSMUSP00000016771150520179 EnsemblGO_REF:0000107
MYH9Humanapical plasma membrane  ISOMyh9 (Rattus norvegicus)9068941 RGDPMID:24042022 and REF_RGD_ID:12879829
MYH9Humanbrush border  ISOMyh9 (Rattus norvegicus)9068941 RGDPMID:22357915 and REF_RGD_ID:7243154
MYH9Humanbrush border located_inIEAUniProtKB:Q8VDD5 and ensembl:ENSMUSP00000016771150520179 EnsemblGO_REF:0000107
MYH9Humancell cortex located_inIEAUniProtKB:Q8VDD5 and ensembl:ENSMUSP00000016771150520179 EnsemblGO_REF:0000107
MYH9Humancell cortex located_inIEAUniProtKB-SubCell:SL-0138150520179 UniProtGO_REF:0000044
MYH9Humancell leading edge located_inIDA 150520179 PMID:12421915UniProtPMID:12421915
MYH9Humancell surface is_active_inIDA 150520179 PMID:20944748UniProtPMID:20944748
MYH9Humancleavage furrow located_inIDA 150520179 PMID:14508515 and PMID:7699007UniProtPMID:14508515 and PMID:7699007
MYH9HumanCOP9 signalosome located_inIDA 150520179 PMID:18850735UniProtPMID:18850735
MYH9Humancortical cytoskeleton located_inIEAUniProtKB:Q8VDD5 and ensembl:ENSMUSP00000016771150520179 EnsemblGO_REF:0000107
MYH9Humancortical granule located_inIEAUniProtKB-SubCell:SL-0541150520179 UniProtGO_REF:0000044
MYH9Humancortical granule located_inISSUniProtKB:Q8VDD5150520179 UniProtGO_REF:0000024
MYH9Humancortical granule located_inIEAUniProtKB:Q8VDD5 and ensembl:ENSMUSP00000016771150520179 EnsemblGO_REF:0000107
MYH9Humancytoplasm located_inIDA 150520179 PMID:22693546 and PMID:7699007UniProtPMID:22693546 and PMID:7699007
MYH9Humancytoplasm is_active_inIBACGD:CAL0000200546 more ...150520179 GO_CentralGO_REF:0000033
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Molecular Function
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MYH9Humanactin binding enablesIDA 150520179 PMID:15065866MGIPMID:15065866
MYH9Humanactin binding enablesIEAUniProtKB-KW:KW-0009150520179 UniProtGO_REF:0000043
MYH9Humanactin filament binding enablesIEAUniProtKB:Q8VDD5 and ensembl:ENSMUSP00000016771150520179 EnsemblGO_REF:0000107
MYH9Humanactin filament binding enablesIBAFB:FBgn0026059 more ...150520179 GO_CentralGO_REF:0000033
MYH9Humanactin filament binding enablesNAS 150520179 PMID:16403913UniProtPMID:16403913
MYH9Humanactin filament binding enablesIEAInterPro:IPR008989150520179 InterProGO_REF:0000002
MYH9Humanactin filament binding contributes_toIDA 150520179 PMID:24072716UniProtPMID:24072716
MYH9Humanactin filament binding enablesIDA 150520179 PMID:12237319 more ...MGIPMID:12237319 more ...
MYH9HumanADP binding enablesIDA 150520179 PMID:15065866MGIPMID:15065866
MYH9HumanATP binding enablesIEAUniProtKB-KW:KW-0067150520179 UniProtGO_REF:0000043
MYH9HumanATP binding enablesIDA 150520179 PMID:15065866 and PMID:15845534MGIPMID:15065866 and PMID:15845534
MYH9HumanATP binding enablesIEAInterPro:IPR001609 more ...150520179 InterProGO_REF:0000002
MYH9HumanATP binding enablesIEAUniRule:UR000686469150520179 UniProtGO_REF:0000104
MYH9Humancadherin binding enablesHDA 150520179 PMID:25468996BHF-UCLPMID:25468996
MYH9Humancalmodulin binding enablesIEAUniProtKB-KW:KW-0112150520179 UniProtGO_REF:0000043
MYH9Humancytoskeletal motor activity enablesIEAInterPro:IPR001609 more ...150520179 InterProGO_REF:0000002
MYH9Humancytoskeletal motor activity enablesIEAUniRule:UR000686469150520179 UniProtGO_REF:0000104
MYH9Humancytoskeletal motor activity enablesNAS 150520179 PMID:12421915UniProtPMID:12421915
MYH9Humanfollicle-stimulating hormone receptor binding  ISOMyh9 (Rattus norvegicus)9068941 RGDPMID:20068007 and REF_RGD_ID:6902910
MYH9HumanG-protein alpha-subunit binding  ISOTgm2 (Rattus norvegicus)9068941 RGDPMID:20068007 and REF_RGD_ID:6902910
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RGD Manual Annotations


  
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MYH9Humanfollicle-stimulating hormone signaling pathway  ISOMyh9 (Rattus norvegicus)9068941 RGDPMID:20068007 and REF_RGD_ID:6902910

Imported Annotations - KEGG (archival)

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MYH9Humanmyocarditis pathway  IEA 6907045 KEGGhsa:05416
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MYH9HumanGiant platelets  IAGP 11533923associated with MYH9-Related Disorders and DNA:mutation:cds:p.D1424N(human)RGD 
MYH9HumanThrombocytopenia  IAGP 11533923associated with MYH9-Related Disorders and DNA:mutation:cds:p.D1424N(human)RGD 
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MYH9HumanAbnormal bleeding  IAGP 8699517 HPOMIM:155100
MYH9HumanAbnormal thrombosis  IAGP 8699517 HPOMIM:155100
MYH9HumanAbnormality of the kidney  IAGP 8699517 HPOMIM:155100
MYH9HumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:155100
MYH9HumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:603622
MYH9HumanBruising susceptibility  IAGP 8699517 HPOMIM:155100
MYH9HumanBruising susceptibility  IAGP 8699517 HPOORPHA:182050
MYH9HumanCongenital onset  IAGP 8699517 HPOMIM:155100
MYH9HumanCongenital thrombocytopenia  IAGP 8699517 HPOORPHA:182050
MYH9HumanElevated circulating hepatic transaminase concentration  IAGP 8699517 HPOORPHA:182050
MYH9HumanEpistaxis  IAGP 8699517 HPOMIM:155100
MYH9HumanGiant platelets  IAGP 8699517 HPOORPHA:182050
MYH9HumanGiant platelets  IAGP 8699517 HPOMIM:155100
MYH9HumanHigh-frequency hearing impairment  IAGP 8699517 HPOMIM:603622
MYH9HumanImpaired ADP-induced platelet aggregation  IAGP 8699517 HPOMIM:155100
MYH9HumanImpaired epinephrine-induced platelet aggregation  IAGP 8699517 HPOMIM:155100
MYH9HumanIncreased mean platelet volume  IAGP 8699517 HPOORPHA:182050
MYH9HumanJuvenile onset  IAGP 8699517 HPOMIM:603622
MYH9HumanLeukocyte inclusion bodies  IAGP 8699517 HPOMIM:155100
MYH9HumanMacrothrombocytopenia  IAGP 8699517 HPOMIM:155100
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
MYH9HumanAbnormal bleeding  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormal bleedingClinVarPMID:10973259 more ...
MYH9HumanAbnormal bleeding  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormal bleedingClinVarPMID:10739770 more ...
MYH9HumanAbnormal facial shape  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormal morphology of the faceClinVarPMID:25741868 and PMID:31064749
MYH9HumanAbnormal platelet function  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormal platelet functionClinVarPMID:25741868 and PMID:31064749
MYH9HumanAbnormal platelet morphology  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormal shape of plateletsClinVarPMID:25741868 and PMID:31064749
MYH9HumanAbnormal platelet shape  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Abnormal platelet shapeClinVarPMID:25741868 and PMID:31064749
MYH9HumanEpistaxis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: EpistaxisClinVarPMID:25741868 and PMID:31064749
MYH9HumanFocal segmental glomerulosclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Focal segmental glomerulosclerosisClinVarPMID:25741868
MYH9HumanFocal segmental glomerulosclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Glomerulosclerosis and focalClinVarPMID:19557653 more ...
MYH9HumanFocal segmental glomerulosclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Glomerulosclerosis and focalClinVarPMID:24033266 more ...
MYH9HumanFocal segmental glomerulosclerosis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Glomerulosclerosis and focalClinVarPMID:24033266 more ...
MYH9HumanGlomerulonephritis  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: GlomerulonephritisClinVarPMID:25741868 and PMID:28492532
MYH9HumanHearing impairment  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hearing impairmentClinVarPMID:30311386
MYH9HumanHearing impairment  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: DeafnessClinVarPMID:10973259 more ...
MYH9HumanHearing impairment  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hearing impairmentClinVarPMID:28492532 and PMID:30872814
MYH9HumanHearing impairment  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hearing impairmentClinVarPMID:18059020 more ...
MYH9HumanHearing impairment  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Hearing impairmentClinVarPMID:30311386
MYH9HumanHypertension  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: High blood pressureClinVarPMID:25741868 and PMID:31064749
MYH9HumanIncreased mean platelet volume  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Large plateletsClinVarPMID:25741868 and PMID:31064749
MYH9HumanMacrothrombocytopenia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: MacrothrombocytopeniaClinVar 
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1 to 20 of 34 rows
#
Reference Title
Reference Citation
1. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. Arrondel C, etal., J Am Soc Nephrol. 2002 Jan;13(1):65-74.
2. MYH9 and APOL1 are both associated with sickle cell disease nephropathy. Ashley-Koch AE, etal., Br J Haematol. 2011 Nov;155(3):386-94. doi: 10.1111/j.1365-2141.2011.08832.x. Epub 2011 Sep 13.
3. African ancestry allelic variation at the MYH9 gene contributes to increased susceptibility to non-diabetic end-stage kidney disease in Hispanic Americans. Behar DM, etal., Hum Mol Genet. 2010 May 1;19(9):1816-27. Epub 2010 Feb 9.
4. Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. Birnbaum S, etal., Eur J Oral Sci. 2009 Apr;117(2):200-3. doi: 10.1111/j.1600-0722.2008.00604.x.
5. Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. Bowles NE, etal., Am J Med Genet A. 2015 Dec;167A(12):2975-84. doi: 10.1002/ajmg.a.37297. Epub 2015 Aug 18.
6. Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. Chiquet BT, etal., Eur J Hum Genet. 2009 Feb;17(2):195-204. doi: 10.1038/ejhg.2008.149. Epub 2008 Aug 20.
7. Polymorphisms in MYH9 are associated with diabetic nephropathy in European Americans. Cooke JN, etal., Nephrol Dial Transplant. 2012 Apr;27(4):1505-11. Epub 2011 Oct 3.
8. Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. Deutsch S, etal., Blood. 2003 Jul 15;102(2):529-34. Epub 2003 Mar 20.
9. Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with albuminuria in hypertensive African Americans: the HyperGEN study. Freedman BI, etal., Am J Nephrol. 2009;29(6):626-32. Epub 2009 Jan 20.
10. Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans. Freedman BI, etal., Kidney Int. 2009 Apr;75(7):736-45. Epub 2009 Jan 28.
11. Non-muscle myosin heavy chain 9 gene MYH9 associations in African Americans with clinically diagnosed type 2 diabetes mellitus-associated ESRD. Freedman BI, etal., Nephrol Dial Transplant. 2009 Nov;24(11):3366-71. Epub 2009 Jun 30.
12. Alterations in expression of myosin and myosin light chain kinases in response to vascular injury. Gallagher PJ, etal., Am J Physiol Cell Physiol. 2000 Oct;279(4):C1078-87.
13. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Ghiggeri GM, etal., Am J Kidney Dis. 2003 Jan;41(1):95-104.
14. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
15. Glomerular MYH9 expression is reduced by HIV-1. Hays T, etal., AIDS. 2012 Apr 24;26(7):797-803.
16. Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China. Jia ZL, etal., DNA Cell Biol. 2010 Jan;29(1):25-32. doi: 10.1089/dna.2009.0935.
17. Podocyte-specific deletion of Myh9 encoding nonmuscle myosin heavy chain 2A predisposes mice to glomerulopathy. Johnstone DB, etal., Mol Cell Biol. 2011 May;31(10):2162-70. Epub 2011 Mar 14.
18. MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Kao WH, etal., Nat Genet. 2008 Oct;40(10):1185-92. Epub 2008 Sep 14.
19. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Lalwani AK, etal., Am J Hum Genet. 2000 Nov;67(5):1121-8. Epub 2000 Oct 9.
20. Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA. Martinelli M, etal., J Med Genet. 2007 Jun;44(6):387-92. Epub 2007 Mar 2.
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PMID:352343   PMID:603622   PMID:1752022   PMID:1860190   PMID:1912569   PMID:1967836   PMID:2732579   PMID:6448079   PMID:7588733   PMID:7699007   PMID:8022818   PMID:8063857  
PMID:8424456   PMID:9390828   PMID:9405067   PMID:9529381   PMID:10591208   PMID:10672519   PMID:10822899   PMID:10862698   PMID:10914687   PMID:10973260   PMID:11029059   PMID:11071640  
PMID:11093280   PMID:11159552   PMID:11590545   PMID:11776386   PMID:11897493   PMID:11918549   PMID:11943476   PMID:12202484   PMID:12217806   PMID:12237319   PMID:12421915   PMID:12477932  
PMID:12533692   PMID:12577067   PMID:12621333   PMID:12705885   PMID:12792306   PMID:12800156   PMID:14508515   PMID:14594945   PMID:14640694   PMID:14706930   PMID:15064761   PMID:15065866  
PMID:15171681   PMID:15203218   PMID:15289939   PMID:15461802   PMID:15477207   PMID:15479433   PMID:15555549   PMID:15635413   PMID:15749830   PMID:15774463   PMID:15845534   PMID:15865432  
PMID:15869600   PMID:16009940   PMID:16051665   PMID:16083285   PMID:16094384   PMID:16105984   PMID:16106752   PMID:16162639   PMID:16169070   PMID:16186248   PMID:16263121   PMID:16403913  
PMID:16567366   PMID:16596254   PMID:16964243   PMID:16969126   PMID:17020881   PMID:17081983   PMID:17241369   PMID:17310241   PMID:17327270   PMID:17342744   PMID:17353931   PMID:17488351  
PMID:17567956   PMID:17620012   PMID:17620599   PMID:17645784   PMID:17875677   PMID:17901043   PMID:17925381   PMID:18029348   PMID:18059020   PMID:18086858   PMID:18192507   PMID:18195072  
PMID:18284620   PMID:18330899   PMID:18332220   PMID:18394644   PMID:18504258   PMID:18571626   PMID:18697221   PMID:18752571   PMID:18794856   PMID:18812466   PMID:18843042   PMID:18850735  
PMID:18925516   PMID:18971378   PMID:19056867   PMID:19147824   PMID:19156129   PMID:19167051   PMID:19191864   PMID:19199708   PMID:19227191   PMID:19380743   PMID:19387472   PMID:19401332  
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MYH9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382236,281,280 - 36,387,967 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2236,281,280 - 36,388,010 (-)EnsemblGRCh38hg38GRCh38
GRCh372236,677,326 - 36,784,012 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362235,007,272 - 35,113,927 (-)NCBINCBI36Build 36hg18NCBI36
Build 342235,001,826 - 35,108,481NCBI
Celera2220,479,895 - 20,586,681 (-)NCBICelera
Cytogenetic Map22q12.3NCBI
HuRef2219,645,404 - 19,752,216 (-)NCBIHuRef
CHM1_12236,636,447 - 36,743,196 (-)NCBICHM1_1
T2T-CHM13v2.02236,741,430 - 36,848,142 (-)NCBIT2T-CHM13v2.0
Myh9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391577,644,788 - 77,726,315 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1577,644,787 - 77,726,375 (-)EnsemblGRCm39 Ensembl
GRCm381577,760,585 - 77,842,175 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1577,760,587 - 77,842,175 (-)EnsemblGRCm38mm10GRCm38
MGSCv371577,591,019 - 77,672,545 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361577,587,843 - 77,669,360 (-)NCBIMGSCv36mm8
Celera1579,227,040 - 79,308,545 (-)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1536.81NCBI
Myh9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87111,224,291 - 111,304,963 (-)NCBIGRCr8
mRatBN7.27109,343,718 - 109,424,457 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7109,343,706 - 109,424,457 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7111,099,271 - 111,152,015 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07113,322,832 - 113,375,576 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07113,284,741 - 113,337,445 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07118,740,005 - 118,792,507 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7118,741,110 - 118,792,625 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl7118,992,356 - 119,071,712 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07118,737,555 - 118,797,086 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47115,681,459 - 115,732,774 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17115,715,686 - 115,767,004 (-)NCBI
Celera7105,684,430 - 105,736,878 (-)NCBICelera
RH 3.4 Map7811.2RGD
Cytogenetic Map7q34NCBI
Myh9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541322,881,045 - 22,972,450 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541322,881,759 - 22,972,182 (-)NCBIChiLan1.0ChiLan1.0
MYH9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22346,139,687 - 46,244,930 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12248,831,242 - 48,936,531 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02217,200,623 - 17,305,826 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12235,039,461 - 35,121,618 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2235,039,101 - 35,121,618 (-)Ensemblpanpan1.1panPan2
MYH9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11028,063,626 - 28,122,953 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1028,063,624 - 28,122,953 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1027,985,072 - 28,076,495 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01028,817,559 - 28,909,010 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1028,817,514 - 28,909,028 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11028,544,285 - 28,635,641 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01028,853,021 - 28,944,583 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01029,031,010 - 29,122,482 (+)NCBIUU_Cfam_GSD_1.0
Myh9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494511,373,869 - 11,455,815 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364924,384,215 - 4,466,262 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364924,384,215 - 4,466,229 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYH9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl511,360,660 - 11,456,472 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1511,365,603 - 11,456,475 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.259,076,302 - 9,165,918 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MYH9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11918,985,709 - 19,093,304 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1918,986,598 - 19,052,671 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045106,805,704 - 106,913,198 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Myh9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475211,327,877 - 11,413,669 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475211,327,881 - 11,414,037 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in MYH9
1554 total Variants

1 to 10 of 1779 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_002473.6(MYH9):c.2900T>A (p.Val967Glu) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032219] Chr22:36300203 [GRCh38]
Chr22:36696249 [GRCh37]
Chr22:22q12.3		 benign
NM_002473.6(MYH9):c.3494G>T (p.Arg1165Leu) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032221] Chr22:36295068 [GRCh38]
Chr22:36691114 [GRCh37]
Chr22:22q12.3		 pathogenic|not provided
NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr) single nucleotide variant MYH9-related disorder [RCV000790359]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032224]|not provided [RCV002513293] Chr22:36292060 [GRCh38]
Chr22:36688106 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV000402895]|MYH9-related disorder [RCV000368736]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032225]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV002504851]|not provided [RCV002054532]|not specified [RCV000037563] Chr22:36288308 [GRCh38]
Chr22:36684354 [GRCh37]
Chr22:22q12.3		 benign
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter) single nucleotide variant Abnormal bleeding [RCV001270545]|MYH9-related disorder [RCV000790363]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015116]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005031439]|not provided [RCV001092002] Chr22:36282754 [GRCh38]
Chr22:36678800 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 17 [RCV002466403]|Deafness [RCV004798729]|MYH9-related disorder [RCV000790361]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015119]|not provided [RCV001310800] Chr22:36284474 [GRCh38]
Chr22:36680520 [GRCh37]
Chr22:22q12.3		 pathogenic|likely pathogenic
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) single nucleotide variant Abnormal bleeding [RCV001270614]|Autosomal dominant nonsyndromic hearing loss 17 [RCV001542710]|MYH9-related disorder [RCV000790357]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015121]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV005025055]|not provided [RCV001092004] Chr22:36295069 [GRCh38]
Chr22:36691115 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_002473.6(MYH9):c.279C>G (p.Asn93Lys) single nucleotide variant MYH9-related disorder [RCV000790350]|Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015122] Chr22:36348958 [GRCh38]
Chr22:36745003 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_002473.6(MYH9):c.4270G>C (p.Asp1424His) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000032223] Chr22:36292060 [GRCh38]
Chr22:36688106 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_002473.6(MYH9):c.3464C>T (p.Thr1155Ile) single nucleotide variant Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss [RCV000015124]|not provided [RCV002513057] Chr22:36295526 [GRCh38]
Chr22:36691572 [GRCh37]
Chr22:22q12.3		 pathogenic
1 to 10 of 1779 rows

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR124-2hsa-miR-124-3pMirtarbaseexternal_infoProteomics;MicroarrayNon-Functional MTI (Weak)18668037
MIRLET7F1hsa-let-7f-5pOncomiRDBexternal_infoNANA21533124
MIRLET7F2hsa-let-7f-5pOncomiRDBexternal_infoNANA21533124

Predicted Target Of
Summary Value
Count of predictions:3835
Count of miRNA genes:1062
Interacting mature miRNAs:1361
Transcripts:ENST00000216181, ENST00000401701, ENST00000456729, ENST00000459960, ENST00000463027, ENST00000472210, ENST00000473022, ENST00000475726, ENST00000477189, ENST00000486218, ENST00000495928
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 41 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
597077719GWAS1173793_Hblood protein measurement QTL GWAS1173793 (human)1e-19blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)223628466836284669Human
597034516GWAS1130590_Hheel bone mineral density QTL GWAS1130590 (human)1e-18heel bone mineral densitybone mineral density (CMO:0001226)223637521136375212Human
597590809GWAS1647669_HNephropathy, nephritis QTL GWAS1647669 (human)3e-12Nephropathy, nephritis223630850436308505Human
406994440GWAS643416_Hreticulocyte count QTL GWAS643416 (human)7e-11reticulocyte quantity (VT:0003135)total reticulocyte count (CMO:0003020)223628186836281869Human
597490326GWAS1586400_Hchronic obstructive pulmonary disease QTL GWAS1586400 (human)4e-09lung integrity trait (VT:0010906)223628804636288047Human
597043293GWAS1139367_Hhemoglobin measurement QTL GWAS1139367 (human)1e-12hemoglobin measurementhemoglobin measurement (CMO:0000508)223636377036363771Human
597054553GWAS1150627_Hhematocrit QTL GWAS1150627 (human)2e-12hemoglobin measurementhemoglobin measurement (CMO:0000508)223637043636370437Human
597584273GWAS1641133_Hmean corpuscular hemoglobin concentration QTL GWAS1641133 (human)6e-24mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)223637043636370437Human
597231049GWAS1327123_Hheel bone mineral density QTL GWAS1327123 (human)2e-24heel bone mineral densitybone mineral density (CMO:0001226)223628186836281869Human

1 to 10 of 41 rows
D22S284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,316,923 - 40,317,020UniSTSGRCh37
Build 362238,646,869 - 38,646,966RGDNCBI36
Celera2224,118,988 - 24,119,083RGD
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
HuRef2223,279,932 - 23,280,027UniSTS
Marshfield Genetic Map2246.42UniSTS
Marshfield Genetic Map2246.42RGD
Genethon Genetic Map2240.1UniSTS
deCODE Assembly Map2249.01UniSTS
Whitehead-YAC Contig Map22 UniSTS
D22S445  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.1UniSTS
Marshfield Genetic Map2245.82UniSTS
Marshfield Genetic Map2245.82RGD
deCODE Assembly Map2245.22UniSTS
Whitehead-RH Map22119.7UniSTS
D22S283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,750,849 - 36,751,068UniSTSGRCh37
GRCh372236,750,949 - 36,751,082UniSTSGRCh37
Build 362235,080,795 - 35,081,014RGDNCBI36
Celera2220,553,467 - 20,553,686RGD
Celera2220,553,567 - 20,553,700UniSTS
Cytogenetic Map22q13.1UniSTS
HuRef2219,719,140 - 19,719,357UniSTS
HuRef2219,719,240 - 19,719,371UniSTS
Marshfield Genetic Map2238.62RGD
Genethon Genetic Map2233.4UniSTS
TNG Radiation Hybrid Map228296.0UniSTS
Stanford-G3 RH Map22962.0UniSTS
GeneMap99-GB4 RH Map22122.67UniSTS
NCBI RH Map22148.7UniSTS
GeneMap99-G3 RH Map22962.0UniSTS
D22S683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,513,927 - 36,514,104UniSTSGRCh37
GRCh372236,512,893 - 36,514,104UniSTSGRCh37
Build 362234,843,873 - 34,844,050RGDNCBI36
Celera2220,315,462 - 20,316,673UniSTS
Celera2220,316,496 - 20,316,673RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,482,129 - 19,482,314UniSTS
HuRef2219,481,095 - 19,482,314UniSTS
Marshfield Genetic Map2236.22RGD
Marshfield Genetic Map2236.22UniSTS
Whitehead-RH Map22115.8UniSTS
D22S1244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,677,750 - 36,677,930UniSTSGRCh37
Build 362235,007,696 - 35,007,876RGDNCBI36
Celera2220,480,322 - 20,480,502RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,645,831 - 19,646,011UniSTS
Stanford-G3 RH Map221019.0UniSTS
NCBI RH Map22150.7UniSTS
GeneMap99-G3 RH Map221019.0UniSTS
RH78680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,677,574 - 36,677,698UniSTSGRCh37
Build 362235,007,520 - 35,007,644RGDNCBI36
Celera2220,480,146 - 20,480,270RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,645,655 - 19,645,779UniSTS
GeneMap99-GB4 RH Map22122.77UniSTS
NCBI RH Map22154.0UniSTS
G42919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,677,375 - 36,677,481UniSTSGRCh37
Build 362235,007,321 - 35,007,427RGDNCBI36
Celera2220,479,947 - 20,480,053RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,645,456 - 19,645,562UniSTS
D22S348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,755,183 - 36,755,381UniSTSGRCh37
Build 362235,085,129 - 35,085,327RGDNCBI36
Celera2220,557,801 - 20,557,999RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,723,472 - 19,723,670UniSTS
MYH9_1587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,677,658 - 36,678,498UniSTSGRCh37
Build 362235,007,604 - 35,008,444RGDNCBI36
Celera2220,480,230 - 20,481,070RGD
HuRef2219,645,739 - 19,646,579UniSTS
D22S693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372228,856,460 - 28,856,708UniSTSGRCh37
Build 362227,186,460 - 27,186,708RGDNCBI36
Celera2212,656,415 - 12,656,643RGD
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map22q13.1UniSTS
HuRef2211,820,976 - 11,821,200UniSTS
Whitehead-RH Map2264.6UniSTS
Whitehead-YAC Contig Map22 UniSTS
RH68678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,751,609 - 36,751,747UniSTSGRCh37
Build 362235,081,555 - 35,081,693RGDNCBI36
Celera2220,554,227 - 20,554,365RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,719,898 - 19,720,036UniSTS
GeneMap99-GB4 RH Map22111.71UniSTS
A008Z18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,698,392 - 36,698,560UniSTSGRCh37
Build 362235,028,338 - 35,028,506RGDNCBI36
Celera2220,500,963 - 20,501,131RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,666,473 - 19,666,641UniSTS
GeneMap99-GB4 RH Map22115.23UniSTS
AL008664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,766,963 - 36,767,113UniSTSGRCh37
Build 362235,096,909 - 35,097,059RGDNCBI36
Celera2220,569,581 - 20,569,731RGD
Cytogenetic Map22q13.1UniSTS
HuRef2219,735,252 - 19,735,402UniSTS
GDB:452635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372236,690,318 - 36,691,621UniSTSGRCh37
Celera2220,492,890 - 20,494,193UniSTS
Cytogenetic Map22q13.1UniSTS
HuRef2219,658,398 - 19,659,703UniSTS
D22S283  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map22q13.1UniSTS
Marshfield Genetic Map2238.62UniSTS
Genethon Genetic Map2233.4UniSTS
GeneMap99-GB4 RH Map22122.67UniSTS
NCBI RH Map22154.0UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2251 4949 1723 2350 6 623 1949 465 2268 7299 6469 52 3712 1 852 1740 1615 174 1


1 to 30 of 38 rows
RefSeq Transcripts NG_011884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA420536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB191263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB290175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC049849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC090921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD614930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D11393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC296130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ304679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO393418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 38 rows

Ensembl Acc Id: ENST00000216181   ⟹   ENSP00000216181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,281,280 - 36,387,967 (-)Ensembl
Ensembl Acc Id: ENST00000401701   ⟹   ENSP00000384631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,325,033 - 36,365,112 (-)Ensembl
Ensembl Acc Id: ENST00000456729   ⟹   ENSP00000414852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,348,928 - 36,365,111 (-)Ensembl
Ensembl Acc Id: ENST00000459960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,295,512 - 36,297,323 (-)Ensembl
Ensembl Acc Id: ENST00000463027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,320,274 - 36,328,952 (-)Ensembl
Ensembl Acc Id: ENST00000472210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,320,241 - 36,321,922 (-)Ensembl
Ensembl Acc Id: ENST00000473022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,302,308 - 36,304,025 (-)Ensembl
Ensembl Acc Id: ENST00000475726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,284,162 - 36,286,044 (-)Ensembl
Ensembl Acc Id: ENST00000477189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,316,513 - 36,319,835 (-)Ensembl
Ensembl Acc Id: ENST00000486218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,284,214 - 36,286,021 (-)Ensembl
Ensembl Acc Id: ENST00000495928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,300,910 - 36,301,714 (-)Ensembl
Ensembl Acc Id: ENST00000685187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,310,906 - 36,388,001 (-)Ensembl
Ensembl Acc Id: ENST00000685191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,320,957 - 36,388,010 (-)Ensembl
Ensembl Acc Id: ENST00000685708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,281,297 - 36,288,211 (-)Ensembl
Ensembl Acc Id: ENST00000685801   ⟹   ENSP00000510688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,281,292 - 36,388,001 (-)Ensembl
Ensembl Acc Id: ENST00000687820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,317,299 - 36,319,571 (-)Ensembl
Ensembl Acc Id: ENST00000687922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,305,723 - 36,309,460 (-)Ensembl
Ensembl Acc Id: ENST00000688137   ⟹   ENSP00000510189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,324,287 - 36,370,610 (-)Ensembl
Ensembl Acc Id: ENST00000690244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,281,297 - 36,286,551 (-)Ensembl
Ensembl Acc Id: ENST00000691109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,281,292 - 36,322,994 (-)Ensembl
Ensembl Acc Id: ENST00000691296   ⟹   ENSP00000509816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,325,072 - 36,388,001 (-)Ensembl
Ensembl Acc Id: ENST00000691687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,311,580 - 36,388,001 (-)Ensembl
Ensembl Acc Id: ENST00000692930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2236,308,695 - 36,388,001 (-)Ensembl
RefSeq Acc Id: NM_002473   ⟹   NP_002464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382236,281,280 - 36,387,967 (-)NCBI
GRCh372236,677,323 - 36,784,107 (-)NCBI
Build 362235,007,272 - 35,113,927 (-)NCBI Archive
HuRef2219,645,404 - 19,752,216 (-)ENTREZGENE
CHM1_12236,636,447 - 36,743,245 (-)NCBI
T2T-CHM13v2.02236,741,430 - 36,848,142 (-)NCBI
Sequence:
RefSeq Acc Id: NP_002464   ⟸   NM_002473
- UniProtKB: Q60FE2 (UniProtKB/Swiss-Prot),   O60805 (UniProtKB/Swiss-Prot),   A8K6E4 (UniProtKB/Swiss-Prot),   Q86T83 (UniProtKB/Swiss-Prot),   P35579 (UniProtKB/Swiss-Prot),   A0A8I5KWT8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000216181   ⟸   ENST00000216181
Ensembl Acc Id: ENSP00000384631   ⟸   ENST00000401701
Ensembl Acc Id: ENSP00000414852   ⟸   ENST00000456729
Ensembl Acc Id: ENSP00000509816   ⟸   ENST00000691296
IQ   Myosin motor   Myosin N-terminal SH3-like   Myosin tail

Name Modeler Protein Id AA Range Protein Structure
AF-P35579-F1-model_v2 AlphaFold P35579 1-1960 view protein structure

RGD ID:6800167
Promoter ID:HG_KWN:42594
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000259118,   OTTHUMT00000259119
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,011,641 - 35,013,032 (-)MPROMDB
RGD ID:6812203
Promoter ID:HG_ACW:51934
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:MYH9.FAPR07,   MYH9.IAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,019,981 - 35,020,992 (-)MPROMDB
RGD ID:6812202
Promoter ID:HG_ACW:51935
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:MYH9.MAPR07,   MYH9.NAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,021,494 - 35,021,994 (-)MPROMDB
RGD ID:6800164
Promoter ID:HG_KWN:42595
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000259117
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,022,901 - 35,024,052 (-)MPROMDB
RGD ID:6812204
Promoter ID:HG_ACW:51936
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:MYH9.PAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,025,711 - 35,026,211 (-)MPROMDB
RGD ID:6815438
Promoter ID:HG_MRA:10508
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:D11393
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,026,594 - 35,027,094 (-)MPROMDB
RGD ID:6800165
Promoter ID:HG_KWN:42596
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000259116
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,027,431 - 35,028,542 (-)MPROMDB
RGD ID:6800163
Promoter ID:HG_KWN:42597
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000259115
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,030,006 - 35,031,002 (-)MPROMDB
RGD ID:6800159
Promoter ID:HG_KWN:42598
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000259114
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,045,381 - 35,046,622 (-)MPROMDB
RGD ID:6800157
Promoter ID:HG_KWN:42599
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000259113
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,047,581 - 35,048,762 (-)MPROMDB
RGD ID:6800156
Promoter ID:HG_KWN:42600
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000259111
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,054,691 - 35,055,932 (-)MPROMDB
RGD ID:6800158
Promoter ID:HG_KWN:42602
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000259112,   UC003APH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,067,456 - 35,068,332 (-)MPROMDB
RGD ID:6800169
Promoter ID:HG_KWN:42603
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000401701,   OTTHUMT00000319104
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,090,921 - 35,091,421 (-)MPROMDB
RGD ID:6800166
Promoter ID:HG_KWN:42604
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000319103
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,102,431 - 35,103,307 (-)MPROMDB
RGD ID:6800161
Promoter ID:HG_KWN:42605
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000337818,   ENST00000358424,   ENST00000397231,   NM_002473
Position:
Human AssemblyChrPosition (strand)Source
Build 362235,113,616 - 35,114,487 (-)MPROMDB
RGD ID:13603894
Promoter ID:EPDNEW_H28131
Type:initiation region
Name:MYH9_1
Description:myosin heavy chain 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382236,387,967 - 36,388,027EPDNEW


1 to 40 of 60 rows
Database
Acc Id
Source(s)
COSMIC MYH9 COSMIC
Ensembl Genes ENSG00000100345 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000216181 ENTREZGENE
  ENST00000216181.11 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.820 UniProtKB/Swiss-Prot
  1.20.5.340 UniProtKB/Swiss-Prot
  1.20.58.530 UniProtKB/Swiss-Prot
  2.30.30.360 UniProtKB/Swiss-Prot
  3.30.70.1590 UniProtKB/Swiss-Prot
  3.40.850.10 UniProtKB/Swiss-Prot
  6.10.250.2420 UniProtKB/Swiss-Prot
  Myosin VI head, motor domain, U50 subdomain UniProtKB/Swiss-Prot
  Myosin, subunit A UniProtKB/Swiss-Prot
GTEx ENSG00000100345 GTEx
HGNC ID HGNC:7579 ENTREZGENE
Human Proteome Map MYH9 Human Proteome Map
InterPro IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot
  Kinesin_motor_dom_sf UniProtKB/Swiss-Prot
  Myosin_head_motor_dom UniProtKB/Swiss-Prot
  Myosin_N UniProtKB/Swiss-Prot
  Myosin_S1_N UniProtKB/Swiss-Prot
  Myosin_tail UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
  RGS_sf UniProtKB/Swiss-Prot
KEGG Report hsa:4627 UniProtKB/Swiss-Prot
NCBI Gene 4627 ENTREZGENE
OMIM 160775 OMIM
PANTHER MYOSIN HEAVY CHAIN, NON-MUSCLE UniProtKB/Swiss-Prot
  MYOSIN-9 UniProtKB/Swiss-Prot
Pfam Myosin_head UniProtKB/Swiss-Prot
  Myosin_N UniProtKB/Swiss-Prot
  Myosin_tail_1 UniProtKB/Swiss-Prot
PharmGKB PA31377 PharmGKB
PRINTS MYOSINHEAVY UniProtKB/Swiss-Prot
PROSITE MYOSIN_MOTOR UniProtKB/Swiss-Prot
  PS50096 UniProtKB/Swiss-Prot
  SH3_LIKE UniProtKB/Swiss-Prot
SMART MYSc UniProtKB/Swiss-Prot
  SM00015 UniProtKB/Swiss-Prot
Superfamily-SCOP Myosin rod fragments UniProtKB/Swiss-Prot
1 to 40 of 60 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-09 MYH9  myosin heavy chain 9    myosin, heavy chain 9, non-muscle  Symbol and/or name change 5135510 APPROVED