Gene Gene information from NCBI Gene database.
Entrez ID 53904
Gene name Myosin IIIA
Gene symbol MYO3A
Synonyms (NCBI Gene)
DFNA90DFNB30
Chromosome 10
Chromosome location 10p12.1
Summary The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-ter
SNPs SNP information provided by dbSNP.
19
SNP ID Visualize variation Clinical significance Consequence
rs140154015 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs143918373 C>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Genic downstream transcript variant, missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs193919333 T>G Pathogenic Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs201023600 G>A Pathogenic Genic downstream transcript variant, splice acceptor variant
rs752046945 T>- Likely-pathogenic Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
87
miRTarBase ID miRNA Experiments Reference
MIRT531693 hsa-miR-33b-3p PAR-CLIP 22012620
MIRT531692 hsa-miR-515-3p PAR-CLIP 22012620
MIRT531691 hsa-miR-519e-3p PAR-CLIP 22012620
MIRT531690 hsa-miR-3918 PAR-CLIP 22012620
MIRT531689 hsa-miR-148a-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000146 Function Microfilament motor activity IBA
GO:0000146 Function Microfilament motor activity IDA 1262820, 12672820
GO:0000146 Function Microfilament motor activity IEA
GO:0000146 Function Microfilament motor activity IMP 17021180
GO:0000166 Function Nucleotide binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606808 7601 ENSG00000095777
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NEV4
Protein name Myosin-IIIa (EC 2.7.11.1)
Protein function Actin-dependent motor protein with a protein kinase activity, playing an essential role in hearing (PubMed:12032315, PubMed:29880844, PubMed:34788109). Probably also plays a role in vision. Required for normal cochlear hair bundle development an
PDB 6JLE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 21 287 Protein kinase domain Domain
PF00063 Myosin_head 340 1041 Myosin head (motor domain) Domain
PF00612 IQ 1083 1101 IQ calmodulin-binding motif Motif
PF00612 IQ 1347 1367 IQ calmodulin-binding motif Motif
Tissue specificity TISSUE SPECIFICITY: Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas.
Sequence
MFPLIGKTIIFDNFPDPSDTWEITETIGKGTYGKVFKVLNKKNGQKAAVKILDPIHDIDE
EIEAEYNILKALSDHPNVVRFYGIYFKKDKVNGDKLWLVLELCSGGSVTDLVKGFLKRGE
RMSEPLIAYILHEALMGLQHLHNNKTIHRDVKGNNILLTTEGGVKLVDFGVSAQLTSTRH
RRNTSVGTPFWMAPEVIACEQQLDTTYDARCDTWSLGITAIELGDGDPPLADLHPMRALF
KIPRNPPPKLRQPELWSAEFNDFISKCLTKDYEKRPTVSELLQHKFI
TQIEGKDVMLQKQ
LTEFIGIHQCMGGTEKARRERIHTKKGNFNRPLISNLKDVDDLATLEILDENTVSEQLEK
CYSRDQIYVYVGDILIALNPFQSLGLYSTKHSKLYIGSKRTASPPHIFAMADLGYQSMIT
YNSDQCIVISGESGAGKTENAHLLVQQLTVLGKANNRTLQEKILQVNNLVEAFGNACTII
NDNSSRFGKYLEMKFTSSGAVVGAQISEYLLEKSRVIHQAIGEKNFHIFYYIYAGLAEKK
KLAHYKLPENKPPRYLQNDHLRTVQDIMNNSFYKSQYELIEQCFKVIGFTMEQLGSIYSI
LAAILNVGNIEFSSVATEHQIDKSHISNHTALENCASLLCIRADELQEALTSHCVVTRGE
TIIRPNTVEKATDVRDAMAKTLYGRLFSWIVNCINSLLKHDSSPSGNGDELSIGILDIFG
FENFKKNSFEQLCINIANEQIQYYYNQHVFAWEQNEYLNEDVDARVIEYEDNWPLLDMFL
QKPMGLLSLLDEESRFPKATDQTLVEKFEGNLKSQYFWRPKRMELSFGIHHYAGKVLYNA
SGFLAKNRDTLPTDIVLLLRSSDNSVIRQLVNHPLTKTGNLPHSKTKNVINYQMRTSEKL
INLAKGDTGEATRHARETTNMKTQTVASYFRYSLMDLLSKMVVGQPHFVRCIKPNSERQA
RKYDKEKVLLQLRYTGILETARIRRLGFSHRILFANFIKRYYLLCYKSSEEPRMSPDTCA
TILEKAGLDNWALGKTKVFLK
YYHVEQLNLMRKEAIDKLILIQACVRAFLCSRRYQKIQE
KRKESAIIIQSAARGHLVRKQRKEIVDMKNTAVTTIQTSDQEFDYKKNFENTRESFVKKQ
AENAISANERFISAPNNKGSVSVVKTSTFKPEEETTNAVESNNRVYQTPKKMNNVYEEEV
KQEFYLVGPEVSPKQKSVKDLEENSNLRKVEKEEAMIQSYYQRYTEERNCEESKAAYLER
KAISERPSYPVPWLAENETSFKKTLEPTLSQRSIYQNANSMEKEKKTSVVTQRAPICSQE
EGRGRLRHETVKERQVEPVTQAQEEEDKAAVFIQSKYRGYKRRQQLRKDKMSSFKHQRIV
TTPTEVARNTHNLYSYPTKHEEINNIKKKDNKDSKATSEREACGLAIFSKQISKLSEEYF
ILQKKLNEMILSQQLKSLYLGVSHHKPINRRVSSQQCLSGVCKGEEPKILRPPRRPRKPK
TLNNPEDSTYYYLLHKSIQEEKRRPRKDSQGKLLDLEDFYYKEFLPSRSGPKEHSPSLRE
RRPQQELQNQCIKANERCWAAESPEKEEEREPAANPYDFRRLLRKTSQRRRLVQQS
Sequence length 1616
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Motor proteins  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
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 30 Pathogenic rs2492423220 RCV003991513
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive nonsyndromic hearing loss 30 Likely pathogenic; Pathogenic rs2131991331, rs2132036795, rs1311980539, rs746055369, rs563832490, rs193919333, rs1564568849, rs1023746725, rs2493926592, rs200822452, rs1564544199, rs1564544348, rs1564602202, rs760866131, rs1589079163
View all (1 more)
RCV001822891
RCV001823262
RCV001784698
RCV001782486
RCV002251104
View all (11 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hearing loss, autosomal dominant 90 Likely pathogenic; Pathogenic rs769540160, rs1564573788 RCV006449107
RCV003768264
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYO3A-related disorder Likely pathogenic; Pathogenic rs769540160, rs1272227420, rs2493908435, rs760255753 RCV003900973
RCV003391628
RCV003402821
RCV003893542
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
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
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 20090771 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB Non-Syndromic Sensorineural Deafness Orphanet
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 20610541
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Deafness Deafness Pubtator 30682115 Associate
★☆☆☆☆
Found in Text Mining only
Deafness, Autosomal Recessive 30 Deafness GENOMICS_ENGLAND_DG 21165622
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 30 Deafness BEFREE 30123247
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 30 Deafness CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Recessive 30 Deafness CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 36175575 Stimulate
★☆☆☆☆
Found in Text Mining only