Seroatlas · Human Serome Atlas

MYH9

Myosin-9

Also known as: DFNA17, EPSTS, FTNS, MHA, MYH9_HUMAN, NMHC-II-A, NMMHCA

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P35579
Gene: MYH9
Ensembl: ENSG00000100345
Chromosome: 22
Canonical length: 1960 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nuclear bodies,Plasma membrane,Actin filaments,Cytosol

OverviewNCBI 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 which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

1960 residues, UniProt reviewed canonical sequence.

>P35579|MYH9
     1  MAQQAADKYL YVDKNFINNP LAQADWAAKK LVWVPSDKSG FEPASLKEEV GEEAIVELVE
    61  NGKKVKVNKD DIQKMNPPKF SKVEDMAELT CLNEASVLHN LKERYYSGLI YTYSGLFCVV
   121  INPYKNLPIY SEEIVEMYKG KKRHEMPPHI YAITDTAYRS MMQDREDQSI LCTGESGAGK
   181  TENTKKVIQY LAYVASSHKS KKDQGELERQ LLQANPILEA FGNAKTVKND NSSRFGKFIR
   241  INFDVNGYIV GANIETYLLE KSRAIRQAKE ERTFHIFYYL LSGAGEHLKT DLLLEPYNKY
   301  RFLSNGHVTI PGQQDKDMFQ ETMEAMRIMG IPEEEQMGLL RVISGVLQLG NIVFKKERNT
   361  DQASMPDNTA AQKVSHLLGI NVTDFTRGIL TPRIKVGRDY VQKAQTKEQA DFAIEALAKA
   421  TYERMFRWLV LRINKALDKT KRQGASFIGI LDIAGFEIFD LNSFEQLCIN YTNEKLQQLF
   481  NHTMFILEQE EYQREGIEWN FIDFGLDLQP CIDLIEKPAG PPGILALLDE ECWFPKATDK
   541  SFVEKVMQEQ GTHPKFQKPK QLKDKADFCI IHYAGKVDYK ADEWLMKNMD PLNDNIATLL
   601  HQSSDKFVSE LWKDVDRIIG LDQVAGMSET ALPGAFKTRK GMFRTVGQLY KEQLAKLMAT
   661  LRNTNPNFVR CIIPNHEKKA GKLDPHLVLD QLRCNGVLEG IRICRQGFPN RVVFQEFRQR
   721  YEILTPNSIP KGFMDGKQAC VLMIKALELD SNLYRIGQSK VFFRAGVLAH LEEERDLKIT
   781  DVIIGFQACC RGYLARKAFA KRQQQLTAMK VLQRNCAAYL KLRNWQWWRL FTKVKPLLQV
   841  SRQEEEMMAK EEELVKVREK QLAAENRLTE METLQSQLMA EKLQLQEQLQ AETELCAEAE
   901  ELRARLTAKK QELEEICHDL EARVEEEEER CQHLQAEKKK MQQNIQELEE QLEEEESARQ
   961  KLQLEKVTTE AKLKKLEEEQ IILEDQNCKL AKEKKLLEDR IAEFTTNLTE EEEKSKSLAK
  1021  LKNKHEAMIT DLEERLRREE KQRQELEKTR RKLEGDSTDL SDQIAELQAQ IAELKMQLAK
  1081  KEEELQAALA RVEEEAAQKN MALKKIRELE SQISELQEDL ESERASRNKA EKQKRDLGEE
  1141  LEALKTELED TLDSTAAQQE LRSKREQEVN ILKKTLEEEA KTHEAQIQEM RQKHSQAVEE
  1201  LAEQLEQTKR VKANLEKAKQ TLENERGELA NEVKVLLQGK GDSEHKRKKV EAQLQELQVK
  1261  FNEGERVRTE LADKVTKLQV ELDNVTGLLS QSDSKSSKLT KDFSALESQL QDTQELLQEE
  1321  NRQKLSLSTK LKQVEDEKNS FREQLEEEEE AKHNLEKQIA TLHAQVADMK KKMEDSVGCL
  1381  ETAEEVKRKL QKDLEGLSQR HEEKVAAYDK LEKTKTRLQQ ELDDLLVDLD HQRQSACNLE
  1441  KKQKKFDQLL AEEKTISAKY AEERDRAEAE AREKETKALS LARALEEAME QKAELERLNK
  1501  QFRTEMEDLM SSKDDVGKSV HELEKSKRAL EQQVEEMKTQ LEELEDELQA TEDAKLRLEV
  1561  NLQAMKAQFE RDLQGRDEQS EEKKKQLVRQ VREMEAELED ERKQRSMAVA ARKKLEMDLK
  1621  DLEAHIDSAN KNRDEAIKQL RKLQAQMKDC MRELDDTRAS REEILAQAKE NEKKLKSMEA
  1681  EMIQLQEELA AAERAKRQAQ QERDELADEI ANSSGKGALA LEEKRRLEAR IAQLEEELEE
  1741  EQGNTELIND RLKKANLQID QINTDLNLER SHAQKNENAR QQLERQNKEL KVKLQEMEGT
  1801  VKSKYKASIT ALEAKIAQLE EQLDNETKER QAACKQVRRT EKKLKDVLLQ VDDERRNAEQ
  1861  YKDQADKAST RLKQLKRQLE EAEEEAQRAN ASRRKLQREL EDATETADAM NREVSSLKNK
  1921  LRRGDLPFVV PRRMARKGAG DGSDEEVDGK ADGAEAKPAE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYH9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.38
Highest tissue expression: 530 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 530 nTPM
endometrium: 234 nTPM
bone marrow: 218 nTPM
spleen: 209 nTPM
adipose tissue: 204 nTPM
lung: 185 nTPM

Single-cell type

neutrophils: 1,874 nCPM
platelets: 1,644 nCPM
pancreatic acinar cells: 1,111 nCPM
neutrophil progenitors: 1,042 nCPM
podocytes: 819 nCPM
endometrial glandular cells: 698 nCPM

Immune cell

basophil: 55 nTPM
total PBMC: 47 nTPM
eosinophil: 43 nTPM
neutrophil: 25 nTPM
gdT-cell: 23 nTPM
MAIT T-cell: 21 nTPM

Brain region

choroid plexus: 131 nTPM
thalamus: 108 nTPM
cerebral cortex: 108 nTPM
medulla oblongata: 107 nTPM
midbrain: 105 nTPM
hippocampal formation: 102 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYH9.

Disease | AllUniProt

Conditions MYH9 is implicated in, by any mechanism.

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) MIM:155100
Deafness, autosomal dominant, 17 (DFNA17) MIM:603622

Disease | GeneticClinVar

69 pathogenic / likely-pathogenic of 2,012 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MYH9-related disorder
Autosomal dominant nonsyndromic hearing loss 17
Thrombocytopenia
Abnormal bleeding

Disease | ImmuneIEDB

Conditions an epitope on MYH9 was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.09
gnomAD pLI: 1
gnomAD missense Z: 3.47
DepMap mean gene effect: -0.44
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MYH9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MYH9 as an antibody target. Whether an autoantibody or antibody against MYH9 could matter depends on whether native MYH9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MYH9 is annotated at the cell surface, where native MYH9 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label MYH9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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