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Aliases for MYO3A Gene

Aliases for MYO3A Gene

  • Myosin IIIA 2 3 5
  • EC 2.7.11.1 4 61
  • Deafness, Autosomal Recessive 30 2
  • Myosin-IIIa 3
  • EC 2.7.11 61
  • DFNB30 3

External Ids for MYO3A Gene

Previous HGNC Symbols for MYO3A Gene

  • DFNB30

Previous GeneCards Identifiers for MYO3A Gene

  • GC10P025958
  • GC10P026373
  • GC10P026227
  • GC10P026263
  • GC10P025882

Summaries for MYO3A Gene

Entrez Gene Summary for MYO3A Gene

  • 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-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYO3A Gene

MYO3A (Myosin IIIA) is a Protein Coding gene. Diseases associated with MYO3A include Deafness, Autosomal Recessive 30 and Dfnb30 Nonsyndromic Hearing Loss And Deafness. Among its related pathways are PAK Pathway and Sweet Taste Signaling. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MYO3B.

UniProtKB/Swiss-Prot for MYO3A Gene

  • Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing.

Gene Wiki entry for MYO3A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO3A Gene

Genomics for MYO3A Gene

Regulatory Elements for MYO3A Gene

Enhancers for MYO3A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G025933 1.6 FANTOM5 Ensembl ENCODE 31.6 +0.4 354 1.4 E2F7 ZNF2 TCF12 GLIS2 GATA2 ZNF302 KLF7 ZNF263 ZNF202 SP3 MYO3A GAD2 GC10P025995
GH10G025901 0.5 FANTOM5 ENCODE 18.9 -31.9 -31878 1.5 MYO3A LOC101929073 LOC105376460 GC10M025807
GH10G025765 1.1 Ensembl ENCODE 4.9 -167.7 -167650 1.6 HDAC1 PKNOX1 ATF1 TBL1XR1 ARNT CHAMP1 TCF12 GATA2 ZEB2 NFIC MYO3A RNA5SP306 HIRAP1
GH10G026000 0.3 FANTOM5 15.4 +67.0 66996 0.2 MYO3A GAD2 GC10P025995 GC10P026192
GH10G025753 0.9 FANTOM5 Ensembl 4.8 -180.1 -180084 0.4 ATF3 ZNF512 CEBPB TRIM24 CEBPG ZIC2 ATF2 MYO3A RNA5SP306 HIRAP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYO3A on UCSC Golden Path with GeneCards custom track

Genomic Location for MYO3A Gene

Chromosome:
10
Start:
25,934,073 bp from pter
End:
26,212,536 bp from pter
Size:
278,464 bases
Orientation:
Plus strand

Genomic View for MYO3A Gene

Genes around MYO3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO3A Gene

Proteins for MYO3A Gene

  • Protein details for MYO3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NEV4-MYO3A_HUMAN
    Recommended name:
    Myosin-IIIa
    Protein Accession:
    Q8NEV4
    Secondary Accessions:
    • Q4G0X2
    • Q5VZ28
    • Q8WX17
    • Q9NYS8

    Protein attributes for MYO3A Gene

    Size:
    1616 amino acids
    Molecular mass:
    186208 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MYO3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO3A Gene

Selected DME Specific Peptides for MYO3A Gene

Q8NEV4:
  • GTPFWMAP
  • NSFEQLCINIANEQIQYY
  • GITAIEL
  • LVLELCSGG
  • WMAPEVI
  • VKLVDFGVSAQL

Post-translational modifications for MYO3A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for MYO3A Gene

Gene Families for MYO3A Gene

Suggested Antigen Peptide Sequences for MYO3A Gene

Graphical View of Domain Structure for InterPro Entry

Q8NEV4

UniProtKB/Swiss-Prot:

MYO3A_HUMAN :
  • In the C-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Family:
  • In the C-terminal section; belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
  • In the N-terminal section; belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family.
genes like me logo Genes that share domains with MYO3A: view

Function for MYO3A Gene

Molecular function for MYO3A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing.

Enzyme Numbers (IUBMB) for MYO3A Gene

Gene Ontology (GO) - Molecular Function for MYO3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity IMP 17021180
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0004672 protein kinase activity IDA,IEA 12672820
genes like me logo Genes that share ontologies with MYO3A: view
genes like me logo Genes that share phenotypes with MYO3A: view

Human Phenotype Ontology for MYO3A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYO3A Gene

MGI Knock Outs for MYO3A:

Animal Model Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for MYO3A Gene

Localization for MYO3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO3A Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYO3A gene
Compartment Confidence
cytoskeleton 5
cytosol 3
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MYO3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0016459 myosin complex IEA --
GO:0030175 filopodium IDA 17021180
GO:0031941 filamentous actin IDA 12672820
genes like me logo Genes that share ontologies with MYO3A: view

Pathways & Interactions for MYO3A Gene

genes like me logo Genes that share pathways with MYO3A: view

Gene Ontology (GO) - Biological Process for MYO3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007601 visual perception IEA --
GO:0007605 sensory perception of sound IMP 12032315
GO:0016310 phosphorylation IEA --
GO:0046777 protein autophosphorylation IDA 12672820
genes like me logo Genes that share ontologies with MYO3A: view

No data available for SIGNOR curated interactions for MYO3A Gene

Drugs & Compounds for MYO3A Gene

(2) Drugs for MYO3A Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for MYO3A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with MYO3A: view

Transcripts for MYO3A Gene

Unigene Clusters for MYO3A Gene

Myosin IIIA:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYO3A Gene

No ASD Table

Relevant External Links for MYO3A Gene

GeneLoc Exon Structure for
MYO3A
ECgene alternative splicing isoforms for
MYO3A

Expression for MYO3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYO3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYO3A Gene

This gene is overexpressed in Testis (x11.5), Artery - Tibial (x6.0), and Brain - Nucleus accumbens (basal ganglia) (x5.4).

Protein differential expression in normal tissues from HIPED for MYO3A Gene

This gene is overexpressed in Platelet (34.5), Retina (14.3), Urinary Bladder (12.6), and Urine (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYO3A Gene



Protein tissue co-expression partners for MYO3A Gene

NURSA nuclear receptor signaling pathways regulating expression of MYO3A Gene:

MYO3A

SOURCE GeneReport for Unigene cluster for MYO3A Gene:

Hs.662630

mRNA Expression by UniProt/SwissProt for MYO3A Gene:

Q8NEV4-MYO3A_HUMAN
Tissue specificity: Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas.

Evidence on tissue expression from TISSUES for MYO3A Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO3A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MYO3A: view

Primer Products

Orthologs for MYO3A Gene

This gene was present in the common ancestor of animals.

Orthologs for MYO3A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYO3A 34 35
  • 99.28 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 90 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia MYO3A 34 35
  • 89.17 (n)
cow
(Bos Taurus)
Mammalia MYO3A 34 35
  • 88 (n)
mouse
(Mus musculus)
Mammalia Myo3a 34 16 35
  • 84.37 (n)
rat
(Rattus norvegicus)
Mammalia Myo3a 34
  • 84.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYO3A 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO3A 34 35
  • 71.92 (n)
lizard
(Anolis carolinensis)
Reptilia MYO3A 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo3a 34
  • 65.55 (n)
zebrafish
(Danio rerio)
Actinopterygii myo3a 34 35
  • 61.83 (n)
Dr.12585 34
fruit fly
(Drosophila melanogaster)
Insecta ninaC 36 34
  • 46.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009730 34
  • 46.09 (n)
Species where no ortholog for MYO3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYO3A Gene

ENSEMBL:
Gene Tree for MYO3A (if available)
TreeFam:
Gene Tree for MYO3A (if available)

Paralogs for MYO3A Gene

Paralogs for MYO3A Gene

genes like me logo Genes that share paralogs with MYO3A: view

Variants for MYO3A Gene

Sequence variations from dbSNP and Humsavar for MYO3A Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_040875 An ovarian mucinous carcinoma sample
VAR_040877 An ovarian serous carcinoma sample
VAR_040883 A renal clear cell carcinoma sample
rs193919333 Pathogenic 26,168,729(+) TATTA(G/T)CACGT nc-transcript-variant, reference, stop-gained
rs201023600 Pathogenic 26,147,429(+) CAACA(A/G)GTCCT splice-acceptor-variant

Structural Variations from Database of Genomic Variants (DGV) for MYO3A Gene

Variant ID Type Subtype PubMed ID
dgv380n106 CNV deletion 24896259
dgv5e194 CNV deletion 18987734
esv2568953 CNV deletion 19546169
esv2658499 CNV deletion 23128226
esv2668519 CNV deletion 23128226
esv2670069 CNV deletion 23128226
esv2734306 CNV deletion 23290073
esv2734317 CNV deletion 23290073
esv2734328 CNV deletion 23290073
esv29775 CNV loss 19812545
esv3303976 CNV mobile element insertion 20981092
esv3309600 CNV mobile element insertion 20981092
esv3415206 CNV insertion 20981092
esv3546045 CNV deletion 23714750
esv3622684 CNV loss 21293372
esv3622686 CNV loss 21293372
esv3622687 CNV loss 21293372
esv3713 CNV loss 18987735
nsv1069465 CNV deletion 25765185
nsv1125492 CNV tandem duplication 24896259
nsv1161933 CNV deletion 26073780
nsv473937 CNV novel sequence insertion 20440878
nsv550228 CNV loss 21841781
nsv819180 CNV loss 19587683
nsv955717 CNV deletion 24416366
nsv975793 CNV duplication 23825009

Variation tolerance for MYO3A Gene

Residual Variation Intolerance Score: 95.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.49; 98.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYO3A Gene

Human Gene Mutation Database (HGMD)
MYO3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO3A Gene

Disorders for MYO3A Gene

MalaCards: The human disease database

(13) MalaCards diseases for MYO3A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 30
  • autosomal recessive nonsyndromic deafness 30
dfnb30 nonsyndromic hearing loss and deafness
  • dfnb 30 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal recessive 77
  • autosomal recessive nonsyndromic deafness 77
deafness, autosomal dominant 48
  • autosomal dominant nonsyndromic deafness 48
- elite association - COSMIC cancer census association via MalaCards
Search MYO3A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYO3A_HUMAN
  • Deafness, autosomal recessive, 30 (DFNB30) [MIM:607101]: A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies. {ECO:0000269 PubMed:12032315}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYO3A

Genetic Association Database (GAD)
MYO3A
Human Genome Epidemiology (HuGE) Navigator
MYO3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYO3A
genes like me logo Genes that share disorders with MYO3A: view

No data available for Genatlas for MYO3A Gene

Publications for MYO3A Gene

  1. Cloning and chromosomal localization of a human class III myosin. (PMID: 10936054) Dose A.C. … Burnside B. (Genomics 2000) 2 3 4 22 64
  2. Supervised machine learning and logistic regression identifies novel epistatic risk factors with PTPN22 for rheumatoid arthritis. (PMID: 20090771) Briggs F.B. … Barcellos L.F. (Genes Immun. 2010) 3 46 64
  3. Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility. (PMID: 20610541) Lascorz J. … Hemminki K. (Carcinogenesis 2010) 3 46 64
  4. Polymorphisms in the GAD2 gene-region are associated with susceptibility for unipolar depression and with a risk factor for anxiety disorders. (PMID: 19229853) Unschuld P.G. … Binder E.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64
  5. The kinase domain alters the kinetic properties of the myosin IIIA motor. (PMID: 18229949) DosAc A.C. … Yengo C.M. (Biochemistry 2008) 3 22 64

Products for MYO3A Gene

Sources for MYO3A Gene

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