• Gene id: 79784

Gene Summary

• Gene Symbol: MYH14   Gene   UCSC   Ensembl
• Aliases: DFNA4, DFNA4A, FP17425, MHC16, MYH17, NMHC II-C, NMHC-II-C, PNMHH, myosin
• Gene name: myosin heavy chain 14
• Alternate names: myosin-14, MYH14 variant protein, myosin heavy chain, non-muscle IIc, myosin, heavy chain 14, non-muscle, myosin, heavy polypeptide 14, non-muscle myosin heavy chain IIc, nonmuscle myosin heavy chain II-C,
• Gene location: 19q13.33 (50188185: 50310543)     Exons: 46     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including
• OMIM: 608568

Protein Summary

• Protein general information: Q7Z406  
  • Name: Myosin 14 (Myosin heavy chain 14) (Myosin heavy chain, non muscle IIc) (Non muscle myosin heavy chain IIc) (NMHC II C)
  • Length: 1995  
  • Mass: 227871
  • Tissue specificity: High levels of expression are found in brain (highest in corpus callosum), heart, kidney, liver, lung, small intestine, colon and skeletal muscle. Expression is low in organs composed mainly of smooth muscle, such as aorta, uterus and
• Sequence:

  MAAVTMSVPGRKAPPRPGPVPEAAQPFLFTPRGPSAGGGPGSGTSPQVEWTARRLVWVPSELHGFEAAALRDEGE
  EEAEVELAESGRRLRLPRDQIQRMNPPKFSKAEDMAELTCLNEASVLHNLRERYYSGLIYTYSGLFCVVINPYKQ
  LPIYTEAIVEMYRGKKRHEVPPHVYAVTEGAYRSMLQDREDQSILCTGESGAGKTENTKKVIQYLAHVASSPKGR
  KEPGVPGELERQLLQANPILEAFGNAKTVKNDNSSRFGKFIRINFDVAGYIVGANIETYLLEKSRAIRQAKDECS
  FHIFYQLLGGAGEQLKADLLLEPCSHYRFLTNGPSSSPGQERELFQETLESLRVLGFSHEEIISMLRMVSAVLQF
  GNIALKRERNTDQATMPDNTAAQKLCRLLGLGVTDFSRALLTPRIKVGRDYVQKAQTKEQADFALEALAKATYER
  LFRWLVLRLNRALDRSPRQGASFLGILDIAGFEIFQLNSFEQLCINYTNEKLQQLFNHTMFVLEQEEYQREGIPW
  TFLDFGLDLQPCIDLIERPANPPGLLALLDEECWFPKATDKSFVEKVAQEQGGHPKFQRPRHLRDQADFSVLHYA
  GKVDYKANEWLMKNMDPLNDNVAALLHQSTDRLTAEIWKDVEGIVGLEQVSSLGDGPPGGRPRRGMFRTVGQLYK
  ESLSRLMATLSNTNPSFVRCIVPNHEKRAGKLEPRLVLDQLRCNGVLEGIRICRQGFPNRILFQEFRQRYEILTP
  NAIPKGFMDGKQACEKMIQALELDPNLYRVGQSKIFFRAGVLAQLEEERDLKVTDIIVSFQAAARGYLARRAFQK
  RQQQQSALRVMQRNCAAYLKLRHWQWWRLFTKVKPLLQVTRQDEVLQARAQELQKVQELQQQSAREVGELQGRVA
  QLEEERARLAEQLRAEAELCAEAEETRGRLAARKQELELVVSELEARVGEEEECSRQMQTEKKRLQQHIQELEAH
  LEAEEGARQKLQLEKVTTEAKMKKFEEDLLLLEDQNSKLSKERKLLEDRLAEFSSQAAEEEEKVKSLNKLRLKYE
  ATIADMEDRLRKEEKGRQELEKLKRRLDGESSELQEQMVEQQQRAEELRAQLGRKEEELQAALARAEDEGGARAQ
  LLKSLREAQAALAEAQEDLESERVARTKAEKQRRDLGEELEALRGELEDTLDSTNAQQELRSKREQEVTELKKTL
  EEETRIHEAAVQELRQRHGQALGELAEQLEQARRGKGAWEKTRLALEAEVSELRAELSSLQTARQEGEQRRRRLE
  LQLQEVQGRAGDGERARAEAAEKLQRAQAELENVSGALNEAESKTIRLSKELSSTEAQLHDAQELLQEETRAKLA
  LGSRVRAMEAEAAGLREQLEEEAAARERAGRELQTAQAQLSEWRRRQEEEAGALEAGEEARRRAAREAEALTQRL
  AEKTETVDRLERGRRRLQQELDDATMDLEQQRQLVSTLEKKQRKFDQLLAEEKAAVLRAVEERERAEAEGREREA
  RALSLTRALEEEQEAREELERQNRALRAELEALLSSKDDVGKSVHELERACRVAEQAANDLRAQVTELEDELTAA
  EDAKLRLEVTVQALKTQHERDLQGRDEAGEERRRQLAKQLRDAEVERDEERKQRTLAVAARKKLEGELEELKAQM
  ASAGQGKEEAVKQLRKMQAQMKELWREVEETRTSREEIFSQNRESEKRLKGLEAEVLRLQEELAASDRARRQAQQ
  DRDEMADEVANGNLSKAAILEEKRQLEGRLGQLEEELEEEQSNSELLNDRYRKLLLQVESLTTELSAERSFSAKA
  ESGRQQLERQIQELRGRLGEEDAGARARHKMTIAALESKLAQAEEQLEQETRERILSGKLVRRAEKRLKEVVLQV
  EEERRVADQLRDQLEKGNLRVKQLKRQLEEAEEEASRAQAGRRRLQRELEDVTESAESMNREVTTLRNRLRRGPL
  TFTTRTVRQVFRLEEGVASDEEAEEAQPGSGPSPEPEGSPPAHPQ

• Structural information:
  • Protein Domains: (51..10-)
    SH3-like (/note="Myosin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01190-)
    (105..80-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (803..83-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSIT-)
  • Interpro: IPR000048  IPR036961  IPR001609  IPR027401  IPR004009   IPR008989  IPR002928  IPR027417  
  • Prosite: PS50096 PS51456 PS51844
  • PDB: 5I4E 5JLH
  • PDBsum: 5I4E 5JLH
  • DIP: 33170
  • STRING: ENSP00000470298
• Other Databases: GeneCards:  MYH14  Malacards:  MYH14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003774	motor activity	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0008360	regulation of cell shape	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0000146	microfilament motor activity	IEA	molecular function
GO:0030048	actin filament-based movement	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0051015	actin filament binding	IEA	molecular function
GO:0001725	stress fiber	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0030898	actin-dependent ATPase activity	IEA	molecular function
GO:0030898	actin-dependent ATPase activity	IDA	contributes to
GO:0097513	myosin II filament	IDA	cellular component
GO:0016887	ATPase activity	IDA	molecular function
GO:0051015	actin filament binding	IDA	contributes to
GO:0042641	actomyosin	IDA	cellular component
GO:0031032	actomyosin structure organization	IDA	biological process
GO:0016460	myosin II complex	IDA	cellular component
GO:0071625	vocalization behavior	IMP	biological process
GO:0007519	skeletal muscle tissue development	IMP	biological process
GO:0070584	mitochondrion morphogenesis	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0003009	skeletal muscle contraction	IMP	biological process
GO:0019228	neuronal action potential	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa04530	Tight junction

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Deafness, autosomal dominant	KEGG:H00604
Sensorineural hearing loss	PMID:15015131
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray