MYH14 (myosin heavy chain 14)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 79784
Gene name Myosin heavy chain 14
Gene symbol MYH14
Synonyms (NCBI Gene)
DFNA4DFNA4AFP17425MHC16MYH17NMHC II-CNMHC-II-CPNMHHmyosin
Chromosome 19
Chromosome location 19q13.33
Summary 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.
13
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.
892
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608568 23212 ENSG00000105357
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
493
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nonsyndromic hearing loss 4A Pathogenic; Likely pathogenic rs2123499275, rs119103279, rs28940307, rs2514302844, rs2514302884, rs554040475, rs866856763 RCV001823258
RCV000002280
RCV000002282
RCV003233344
RCV004585116
RCV004585117
RCV004585118
MYH14-related disorder Pathogenic rs1208834216 RCV004723442
Ovarian serous cystadenocarcinoma Likely pathogenic rs866856763 RCV005939516
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Pathogenic rs113993956 RCV000023718
Show/Hide Unknown Diseases (22)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs78192108 RCV005889039
Autosomal dominant nonsyndromic hearing loss Uncertain significance rs2123341583 RCV005250192
Cervical cancer Benign rs116232410, rs78192108 RCV005921580
RCV005889040
Charcot-Marie-Tooth disease Uncertain significance rs373919106 RCV000788082
Show/Hide Text Mining Associations (92)
Associations from Text MiningDisease 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