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Aliases for MYO3A Gene

Aliases for MYO3A Gene

  • Myosin IIIA 2 3 5
  • EC 2.7.11.1 4 56
  • Deafness, Autosomal Recessive 30 2
  • Myosin-IIIa 3
  • EC 2.7.11 56
  • 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 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are PAK Pathway and ERK Signaling. Gene Ontology (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 (PubMed:12032315). Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments (By similarity).

Gene Wiki entry for MYO3A Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for MYO3A Gene

Promoters and enhancers for MYO3A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I025933 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 581.6 +0.4 353 1.4 ZNF2 GLIS2 ZNF213 ZNF302 KLF7 ZNF202 SP3 REST ZNF488 ZNF518A MYO3A LOC101929073 GAD2 GC10P025995
GH10I025901 Enhancer 0.6 FANTOM5 ENCODE 18.9 -31.9 -31877 1.5 EBF1 RUNX3 GC10M025807 MYO3A LOC101929073 LOC105376460
GH10I025765 Enhancer 1.1 Ensembl ENCODE 4.9 -167.7 -167650 1.6 HDAC1 PKNOX1 ATF1 ARNT SIN3A CHAMP1 TCF12 GATA2 ZNF143 RCOR1 MYO3A RNA5SP306 HIRAP1
GH10I025753 Enhancer 0.8 FANTOM5 Ensembl 4.8 -180.1 -180084 0.4 CEBPB CEBPG ZIC2 ATF2 ZNF335 ATF4 ZNF512 TRIM24 ATF7 MYO3A RNA5SP306 HIRAP1
GH10I026000 Enhancer 0.2 FANTOM5 15.4 +67.0 66995 0.2 MYO3A GAD2 GC10P025995 GC10P026192
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYO3A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYO3A gene promoter:

Genomic Locations for MYO3A Gene

Genomic Locations for MYO3A Gene
chr10:25,934,073-26,212,536
(GRCh38/hg38)
Size:
278,464 bases
Orientation:
Plus strand
chr10:26,223,002-26,501,465
(GRCh37/hg19)

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:
    • Interacts with MORN4 (PubMed:25822849). Interacts (via C-terminus) with ESPN and ESPNL (By similarity).

    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

No Post-translational modifications

Domains & Families for MYO3A Gene

Gene Families for MYO3A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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 (PubMed:12032315). Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments (By similarity).

Enzyme Numbers (IUBMB) for MYO3A Gene

Phenotypes From GWAS Catalog 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 IEA,IDA 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:

Clone 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. Cytoplasm. Cell projection, filopodium tip. Cell projection, stereocilium. Note=Increased localization at the filodium tip seen in the presence of MORN4. {ECO:0000269 PubMed:25822849}.

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (3)
  • Cytoplasmic bodies (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYO3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 25822849
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 ISS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist 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:

Clone 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
Regions:
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

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 33 34
  • 99.28 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 90 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia MYO3A 33 34
  • 89.17 (n)
cow
(Bos Taurus)
Mammalia MYO3A 33 34
  • 88 (n)
mouse
(Mus musculus)
Mammalia Myo3a 33 16 34
  • 84.37 (n)
rat
(Rattus norvegicus)
Mammalia Myo3a 33
  • 84.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYO3A 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO3A 33 34
  • 71.92 (n)
lizard
(Anolis carolinensis)
Reptilia MYO3A 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo3a 33
  • 65.55 (n)
zebrafish
(Danio rerio)
Actinopterygii myo3a 33 34
  • 61.83 (n)
Dr.12585 33
fruit fly
(Drosophila melanogaster)
Insecta ninaC 35 33
  • 46.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009730 33
  • 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 Variation AA Info Type
rs10128298 likely-benign, Nonsyndromic Hearing Loss, Recessive 25,935,830(+) G/A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1048738776 uncertain-significance, Nonsyndromic Hearing Loss, Recessive 26,212,290(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs11014875 benign, likely-benign, not specified, Nonsyndromic Hearing Loss, Recessive 25,952,096(+) T/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs112195128 benign, uncertain-significance, not specified, Nonsyndromic Hearing Loss, Recessive 26,125,465(+) T/C coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs114982270 benign, uncertain-significance, not specified, Nonsyndromic Hearing Loss, Recessive 26,128,445(+) T/C coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant

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

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

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)

Additional Variant Information 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

(10) MalaCards diseases for MYO3A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for MYO3A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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) Dosé AC … Burnside B (Genomics 2000) 2 3 4 22 58
  2. Invertebrate and vertebrate class III myosins interact with MORN repeat-containing adaptor proteins. (PMID: 25822849) Mecklenburg KL … O'Tousa JE (PloS one 2015) 3 4 58
  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 44 58
  4. Supervised machine learning and logistic regression identifies novel epistatic risk factors with PTPN22 for rheumatoid arthritis. (PMID: 20090771) Briggs FB … Barcellos LF (Genes and immunity 2010) 3 44 58
  5. Polymorphisms in the GAD2 gene-region are associated with susceptibility for unipolar depression and with a risk factor for anxiety disorders. (PMID: 19229853) Unschuld PG … Binder EB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 44 58

Products for MYO3A Gene

Sources for MYO3A Gene

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