MYH14 (myosin heavy chain 14)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79784
Gene name Gene Name - the full gene name approved by the HGNC.
Myosin heavy chain 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYH14
Synonyms (NCBI Gene) Gene synonyms aliases
DFNA4, DFNA4A, FP17425, MHC16, MYH17, NMHC II-C, NMHC-II-C, PNMHH, myosin
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
SNP ID Visualize variation Clinical significance Consequence
rs28940306 C>T Pathogenic Coding sequence variant, missense variant
rs28940307 C>A Pathogenic Coding sequence variant, missense variant
rs113993956 G>A,T Likely-benign, pathogenic Coding sequence variant, missense variant
rs119103279 C>A,T Pathogenic Coding sequence variant, missense variant, stop gained
rs119103280 G>T Benign-likely-benign, likely-benign, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(892)
miRTarBase ID miRNA Experiments Reference
MIRT041383 hsa-miR-193b-3p CLASH 23622248
MIRT040265 hsa-miR-615-3p CLASH 23622248
MIRT037141 hsa-miR-877-3p CLASH 23622248
MIRT451029 hsa-miR-6760-5p HITS-CLIP 23706177
MIRT451027 hsa-miR-1321 HITS-CLIP 23706177
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
GO ID Ontology Definition Evidence Reference
GO:0000146 Function Microfilament motor activity IDA 24072716
GO:0000146 Function Microfilament motor activity IEA
GO:0000166 Function Nucleotide binding IEA
GO:0000281 Process Mitotic cytokinesis IBA
GO:0001725 Component Stress fiber IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608568 23212 ENSG00000105357
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q7Z406
Protein name Myosin-14 (Myosin heavy chain 14) (Myosin heavy chain, non-muscle IIc) (Non-muscle myosin heavy chain IIc) (NMHC II-C)
Protein function Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.
PDB 5I4E , 5JLH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00063 Myosin_head 107 → 788 Myosin head (motor domain) Domain
PF01576 Myosin_tail_1 865 → 1945 Myosin tail Coiled-coil
Tissue specificity 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 
MAAVTMSVPGRKAPPRPGPVPEAAQPFLFTPRGPSAGGGPGSGTSPQVEWTARRLVWVPS
ELHGFEAAALRDEGEEEAEVELAESGRRLRLPRDQIQRMNPPKFSKAEDMAELTCLNEAS
VLHNLRERYYSGLIYTYSGLFCVVINPYKQLPIYTEAIVEMYRGKKRHEVPPHVYAVTEG
AYRSMLQDREDQSILCTGESGAGKTENTKKVIQYLAHVASSPKGRKEPGVPGELERQLLQ
ANPILEAFGNAKTVKNDNSSRFGKFIRINFDVAGYIVGANIETYLLEKSRAIRQAKDECS
FHIFYQLLGGAGEQLKADLLLEPCSHYRFLTNGPSSSPGQERELFQETLESLRVLGFSHE
EIISMLRMVSAVLQFGNIALKRERNTDQATMPDNTAAQKLCRLLGLGVTDFSRALLTPRI
KVGRDYVQKAQTKEQADFALEALAKATYERLFRWLVLRLNRALDRSPRQGASFLGILDIA
GFEIFQLNSFEQLCINYTNEKLQQLFNHTMFVLEQEEYQREGIPWTFLDFGLDLQPCIDL
IERPANPPGLLALLDEECWFPKATDKSFVEKVAQEQGGHPKFQRPRHLRDQADFSVLHYA
GKVDYKANEWLMKNMDPLNDNVAALLHQSTDRLTAEIWKDVEGIVGLEQVSSLGDGPPGG
RPRRGMFRTVGQLYKESLSRLMATLSNTNPSFVRCIVPNHEKRAGKLEPRLVLDQLRCNG
VLEGIRICRQGFPNRILFQEFRQRYEILTPNAIPKGFMDGKQACEKMIQALELDPNLYRV
GQSKIFFRAGVLAQLEEERDLKVTDIIVSFQAAARGYLARRAFQKRQQQQSALRVMQRNC
AAYLKLRHWQWWRLFTKVKPLLQVTRQDEVLQARAQELQKVQELQQQSAREVGELQGRVA
QLEEERARLAEQLRAEAELCAEAEETRGRLAARKQELELVVSELEARVGEEEECSRQMQT
EKKRLQQHIQELEAHLEAEEGARQKLQLEKVTTEAKMKKFEEDLLLLEDQNSKLSKERKL
LEDRLAEFSSQAAEEEEKVKSLNKLRLKYEATIADMEDRLRKEEKGRQELEKLKRRLDGE
SSELQEQMVEQQQRAEELRAQLGRKEEELQAALARAEDEGGARAQLLKSLREAQAALAEA
QEDLESERVARTKAEKQRRDLGEELEALRGELEDTLDSTNAQQELRSKREQEVTELKKTL
EEETRIHEAAVQELRQRHGQALGELAEQLEQARRGKGAWEKTRLALEAEVSELRAELSSL
QTARQEGEQRRRRLELQLQEVQGRAGDGERARAEAAEKLQRAQAELENVSGALNEAESKT
IRLSKELSSTEAQLHDAQELLQEETRAKLALGSRVRAMEAEAAGLREQLEEEAAARERAG
RELQTAQAQLSEWRRRQEEEAGALEAGEEARRRAAREAEALTQRLAEKTETVDRLERGRR
RLQQELDDATMDLEQQRQLVSTLEKKQRKFDQLLAEEKAAVLRAVEERERAEAEGREREA
RALSLTRALEEEQEAREELERQNRALRAELEALLSSKDDVGKSVHELERACRVAEQAAND
LRAQVTELEDELTAAEDAKLRLEVTVQALKTQHERDLQGRDEAGEERRRQLAKQLRDAEV
ERDEERKQRTLAVAARKKLEGELEELKAQMASAGQGKEEAVKQLRKMQAQMKELWREVEE
TRTSREEIFSQNRESEKRLKGLEAEVLRLQEELAASDRARRQAQQDRDEMADEVANGNLS
KAAILEEKRQLEGRLGQLEEELEEEQSNSELLNDRYRKLLLQVESLTTELSAERSFSAKA
ESGRQQLERQIQELRGRLGEEDAGARARHKMTIAALESKLAQAEEQLEQETRERILSGKL
VRRAEKRLKEVVLQVEEERRVADQLRDQLEKGNLRVKQLKRQLEEAEEEASRAQAGRRRL
QRELEDVTESAESMNREVTTLRNRLRRGPLTFTTRTVRQVFRLEEGVASDEEAEEAQPGS
GPSPEPEGSPPAHPQ
Sequence length 1995
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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 		  RHO GTPases activate PAKs
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal dominant nonsyndromic hearing loss 4A rs119103279, rs28940307 N/A
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome rs113993956 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease N/A N/A ClinVar
hearing impairment Hearing impairment N/A N/A ClinVar
Meniere Disease meniere disease N/A N/A ClinVar
Nonsyndromic Deafness Nonsyndromic Hearing Loss, Dominant N/A N/A ClinVar
Show/Hide Text Mining Associations (92)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 36140722
Actin Accumulation Myopathy Associate 10525522, 22798622
Acute Disease Associate 18245202, 19501843
Amyotrophic Lateral Sclerosis Associate 24184715
Apical Hypertrophic Cardiomyopathy Associate 28606303, 29626422, 33605878
Arthrogryposis multiplex congenita distal type 1 Associate 20457903
Bone Diseases Metabolic Stimulate 36077598
Carcinogenesis Associate 15282353
Cardiomegaly Associate 7883988
Cardiomyopathies Associate 17192269, 19651039, 22194935, 24344137, 25241052, 29626422, 38006882