Gene Gene information from NCBI Gene database.
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
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
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
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.
MIM HGNC e!Ensembl
608568 23212 ENSG00000105357
Protein Protein information from UniProt database.
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
GQSKIFFR
AGVLAQLEEERDLKVTDIIVSFQAAARGYLARRAFQKRQQQQSALRVMQRNC
AAYLKLRHWQWWRLFTKVKPLLQVTRQDEVLQARAQELQKVQELQQQSAREVGELQGRVA
QLEEERARLAEQLRAEAELCAEAEETRGRLAARKQELELVVSELEARVGEEEECSRQMQT
EKKRLQQHIQELEAHLEAEEGARQKLQLEKVTTEAKMKKFEEDLLLLEDQNSKLSKERKL
LEDRLAEFSSQAAEEEEKVKSLNKLRLKYEATIADMEDRLRKEEKGRQELEKLKRRLDGE
SSELQEQMVEQQQRAEELRAQLGRKEEELQAALARAEDEGGARAQLLKSLREAQAALAEA
QEDLESERVARTKAEKQRRDLGEELEALRGELEDTLDSTNAQQELRSKREQEVTELKKTL
EEETRIHEAAVQELRQRHGQALGELAEQLEQARRGKGAWEKTRLALEAEVSELRAELSSL
QTARQEGEQRRRRLELQLQEVQGRAGDGERARAEAAEKLQRAQAELENVSGALNEAESKT
IRLSKELSSTEAQLHDAQELLQEETRAKLALGSRVRAMEAEAAGLREQLEEEAAARERAG
RELQTAQAQLSEWRRRQEEEAGALEAGEEARRRAAREAEALTQRLAEKTETVDRLERGRR
RLQQELDDATMDLEQQRQLVSTLEKKQRKFDQLLAEEKAAVLRAVEERERAEAEGREREA
RALSLTRALEEEQEAREELERQNRALRAELEALLSSKDDVGKSVHELERACRVAEQAAND
LRAQVTELEDELTAAEDAKLRLEVTVQALKTQHERDLQGRDEAGEERRRQLAKQLRDAEV
ERDEERKQRTLAVAARKKLEGELEELKAQMASAGQGKEEAVKQLRKMQAQMKELWREVEE
TRTSREEIFSQNRESEKRLKGLEAEVLRLQEELAASDRARRQAQQDRDEMADEVANGNLS
KAAILEEKRQLEGRLGQLEEELEEEQSNSELLNDRYRKLLLQVESLTTELSAERSFSAKA
ESGRQQLERQIQELRGRLGEEDAGARARHKMTIAALESKLAQAEEQLEQETRERILSGKL
VRRAEKRLKEVVLQVEEERRVADQLRDQLEKGNLRVKQLKRQLEEAEEEASRAQAGRRRL
QRELEDVTESAESMNREVTTLRNRL
RRGPLTFTTRTVRQVFRLEEGVASDEEAEEAQPGS
GPSPEPEGSPPAHPQ
Sequence length 1995
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
38
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant nonsyndromic hearing loss 4A Pathogenic; Likely pathogenic rs2123499275, rs119103279, rs28940307, rs2514302844, rs2514302884, rs554040475, rs866856763 RCV001823258
RCV000002280
RCV000002282
RCV003233344
RCV004585116
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYH14-related disorder Pathogenic rs1208834216 RCV004723442
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma Likely pathogenic rs866856763 RCV005939516
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Pathogenic rs113993956 RCV000023718
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant nonsyndromic hearing loss Uncertain significance ClinVar
CTD
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHY, DILATED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28577945
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 24184715 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis HPO_DG
★☆☆☆☆
Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Bardet-Biedl syndrome 4 (disorder) Bardet-Biedl Syndrome BEFREE 10409426
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 36077598 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 15282353 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomegaly Cardiomegaly Pubtator 7883988 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 17192269, 19651039, 22194935, 24344137, 25241052, 29626422, 38006882 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 18375581
★☆☆☆☆
Found in Text Mining only