MYH2

Protein identityUniProt · HPA

UniProt accession

Q9UKX2

Gene

MYH2

Ensembl

ENSG00000125414

Chromosome

17

Canonical length

1941 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Focal adhesion sites

OverviewNCBI Gene

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

1941 residues, UniProt reviewed canonical sequence.

>Q9UKX2|MYH2
     1  MSSDSELAVF GEAAPFLRKS ERERIEAQNR PFDAKTSVFV AEPKESFVKG TIQSREGGKV
    61  TVKTEGGATL TVKDDQVFPM NPPKYDKIED MAMMTHLHEP AVLYNLKERY AAWMIYTYSG
   121  LFCVTVNPYK WLPVYKPEVV TAYRGKKRQE APPHIFSISD NAYQFMLTDR ENQSILITGE
   181  SGAGKTVNTK RVIQYFATIA VTGEKKKEEI TSGKIQGTLE DQIISANPLL EAFGNAKTVR
   241  NDNSSRFGKF IRIHFGTTGK LASADIETYL LEKSRVVFQL KAERSYHIFY QITSNKKPEL
   301  IEMLLITTNP YDYPFVSQGE ISVASIDDQE ELMATDSAID ILGFTNEEKV SIYKLTGAVM
   361  HYGNLKFKQK QREEQAEPDG TEVADKAAYL QSLNSADLLK ALCYPRVKVG NEYVTKGQTV
   421  EQVSNAVGAL AKAVYEKMFL WMVARINQQL DTKQPRQYFI GVLDIAGFEI FDFNSLEQLC
   481  INFTNEKLQQ FFNHHMFVLE QEEYKKEGIE WTFIDFGMDL AACIELIEKP MGIFSILEEE
   541  CMFPKATDTS FKNKLYDQHL GKSANFQKPK VVKGKAEAHF ALIHYAGVVD YNITGWLEKN
   601  KDPLNETVVG LYQKSAMKTL AQLFSGAQTA EGEGAGGGAK KGGKKKGSSF QTVSALFREN
   661  LNKLMTNLRS THPHFVRCII PNETKTPGAM EHELVLHQLR CNGVLEGIRI CRKGFPSRIL
   721  YADFKQRYKV LNASAIPEGQ FIDSKKASEK LLASIDIDHT QYKFGHTKVF FKAGLLGLLE
   781  EMRDDKLAQL ITRTQARCRG FLARVEYQRM VERREAIFCI QYNIRSFMNV KHWPWMKLFF
   841  KIKPLLKSAE TEKEMATMKE EFQKIKDELA KSEAKRKELE EKMVTLLKEK NDLQLQVQAE
   901  AEGLADAEER CDQLIKTKIQ LEAKIKEVTE RAEDEEEINA ELTAKKRKLE DECSELKKDI
   961  DDLELTLAKV EKEKHATENK VKNLTEEMAG LDETIAKLTK EKKALQEAHQ QTLDDLQAEE
  1021  DKVNTLTKAK IKLEQQVDDL EGSLEQEKKL RMDLERAKRK LEGDLKLAQE SIMDIENEKQ
  1081  QLDEKLKKKE FEISNLQSKI EDEQALGIQL QKKIKELQAR IEELEEEIEA ERASRAKAEK
  1141  QRSDLSRELE EISERLEEAG GATSAQIEMN KKREAEFQKM RRDLEEATLQ HEATAATLRK
  1201  KHADSVAELG EQIDNLQRVK QKLEKEKSEM KMEIDDLASN VETVSKAKGN LEKMCRTLED
  1261  QLSELKSKEE EQQRLINDLT AQRGRLQTES GEFSRQLDEK EALVSQLSRG KQAFTQQIEE
  1321  LKRQLEEEIK AKNALAHALQ SSRHDCDLLR EQYEEEQESK AELQRALSKA NTEVAQWRTK
  1381  YETDAIQRTE ELEEAKKKLA QRLQAAEEHV EAVNAKCASL EKTKQRLQNE VEDLMLDVER
  1441  TNAACAALDK KQRNFDKILA EWKQKCEETH AELEASQKEA RSLGTELFKI KNAYEESLDQ
  1501  LETLKRENKN LQQEISDLTE QIAEGGKRIH ELEKIKKQVE QEKCELQAAL EEAEASLEHE
  1561  EGKILRIQLE LNQVKSEVDR KIAEKDEEID QLKRNHIRIV ESMQSTLDAE IRSRNDAIRL
  1621  KKKMEGDLNE MEIQLNHANR MAAEALRNYR NTQGILKDTQ IHLDDALRSQ EDLKEQLAMV
  1681  ERRANLLQAE IEELRATLEQ TERSRKIAEQ ELLDASERVQ LLHTQNTSLI NTKKKLETDI
  1741  SQMQGEMEDI LQEARNAEEK AKKAITDAAM MAEELKKEQD TSAHLERMKK NMEQTVKDLQ
  1801  LRLDEAEQLA LKGGKKQIQK LEARVRELEG EVESEQKRNA EAVKGLRKHE RRVKELTYQT
  1861  EEDRKNILRL QDLVDKLQAK VKSYKRQAEE AEEQSNTNLA KFRKLQHELE EAEERADIAE
  1921  SQVNKLRVKS REVHTKVISE E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYH2 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

11,977 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYH2.

Disease | AllUniProt

Conditions MYH2 is implicated in, by any mechanism.

• Congenital myopathy 6 with ophthalmoplegia (CMYO6) MIM:605637

Disease | GeneticClinVar

119 pathogenic / likely-pathogenic of 1,715 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Myopathy, proximal, and ophthalmoplegia
• MYH2-related disorder
• Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
• Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
• Autosomal recessive MYH2-related disorders

Disease | ImmuneIEDB

Conditions an epitope on MYH2 was assayed in.

• rheumatic fever T cell

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)

0.69

gnomAD pLI

0

gnomAD missense Z

1.97

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• muscle contraction
• muscle filament sliding

Molecular functions

• actin filament binding
• ATP binding
• calmodulin binding
• microfilament motor activity

Cellular components

• cell-cell junction
• cytoplasm
• cytosol
• muscle myosin complex
• myofibril
• myosin filament
• myosin II complex
• protein-containing complex
• sarcomere

Protein domainsUniProt · Pfam · InterPro

• IQ motif, EF-hand binding site
• Myosin head, motor domain-like
• Myosin tail
• Myosin, SH3 domain
• Myosin S1 fragment, N-terminal
• DNA repair protein XRCC4-like, C-terminal
• P-loop containing nucleoside triphosphate hydrolase
• Kinesin motor domain superfamily
• Myosin head (motor domain)
• Myosin tail
• Myosin N-terminal SH3-like domain

KeywordsUniProt

• Actin-binding
• ATP-binding
• Calmodulin-binding
• Coiled coil
• Cytoplasm
• Methylation
• Motor protein
• Muscle protein
• Myosin
• Nucleotide-binding
• Phosphoprotein
• Thick filament

InteractionsUniProt · HPA

Protein binding partners of MYH2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GCSAM