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... See more...

Aliases for MYO3A Gene

Aliases for MYO3A Gene

  • Myosin IIIA 2 3 5
  • Myosin-IIIa 3 4
  • EC 2.7.11.1 4 51
  • Epididymis Secretory Sperm Binding Protein 3
  • Deafness, Autosomal Recessive 30 2
  • EC 2.7.11 51
  • DFNB30 3
  • MYO3A 5

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 Nonsyndromic Hearing Loss. Among its related pathways are Actin Nucleation by ARP-WASP Complex 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 Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYO3A Gene

Genomics for MYO3A Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH10J025933 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 631.5 +0.4 372 1.6 ZNF221 CTCF PRDM10 ZNF629 ZNF692 PRDM1 ZSCAN4 PATZ1 EZH2 ZNF600 MYO3A ENSG00000226304 LOC101929073 GAD2 piR-36756-008
GH10J025935 Enhancer 0.3 Ensembl 600.7 +1.5 1472 0.2 ZBTB20 ENSG00000226304 LOC101929073 MYO3A piR-36756-008 GAD2
GH10J025901 Enhancer 0.7 FANTOM5 Ensembl ENCODE 19 -32.0 -32029 1.6 RUNX3 SPI1 lnc-MYO3A-1 MYO3A ENSG00000226304 LOC105376460 GPR158
GH10J025818 Enhancer 0.6 Ensembl ENCODE 7.7 -115.7 -115728 2.2 TEAD4 POLR2A RAD21 TAF1 TBP RF00026-130 RNU6-632P MYO3A RNA5SP306 GPR158
GH10J025899 Enhancer 0.2 Ensembl 26.2 -34.5 -34528 1 lnc-MYO3A-1 piR-51700-001 MYO3A ENSG00000226304 GPR158
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO3A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYO3A

Top Transcription factor binding sites by QIAGEN in the MYO3A gene promoter:
  • En-1
  • FOXJ2 (long isoform)
  • HFH-1
  • HNF-1
  • HNF-1A
  • Lhx3a
  • LHX3b
  • Msx-1
  • Pax-4a
  • S8

Genomic Locations for MYO3A Gene

Genomic Locations for MYO3A Gene
chr10:25,934,229-26,212,536
(GRCh38/hg38)
Size:
278,308 bases
Orientation:
Plus strand
chr10:26,223,002-26,501,465
(GRCh37/hg19)
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:
    • Interacts with MORN4 (PubMed:25822849). Interacts (via C-terminus) with ESPN and ESPNL (By similarity).

    Three dimensional structures from OCA and Proteopedia for MYO3A Gene

    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

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

Protein Domains for MYO3A Gene

Suggested Antigen Peptide Sequences for MYO3A Gene

GenScript: Design optimal peptide antigens:
  • Myosin-IIIa (MYO3A_HUMAN)
  • MYO3A protein (Q0VD65_HUMAN)
  • MYO3A protein (Q86VY5_HUMAN)

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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.

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:
  • Myo3a Myo3a<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO3A

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
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 0

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

PathCards logo

SuperPathways for MYO3A Gene

SuperPathway Contained pathways
1 PAK Pathway
.56
.56
.36
2 Actin Nucleation by ARP-WASP Complex
.66
.35
3 RhoGDI Pathway
.33
.33
4 Sweet Taste Signaling
.46
5 Sertoli-Sertoli Cell Junction Dynamics
.36
genes like me logo Genes that share pathways with MYO3A: view

Pathways by source for MYO3A Gene

11 Qiagen pathways for MYO3A Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions

Interacting Proteins for MYO3A Gene

SIGNOR curated interactions for MYO3A Gene

Inactivates:
Is inactivated by:

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

Drugs & Compounds for MYO3A Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with MYO3A: view

Transcripts for MYO3A Gene

mRNA/cDNA for MYO3A Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO3A

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

No ASD Table

Relevant External Links for MYO3A Gene

GeneLoc Exon Structure for
MYO3A

Expression for MYO3A Gene

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



Protein tissue co-expression partners for MYO3A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)

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 30 31
  • 99.28 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 90 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia MYO3A 30 31
  • 89.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYO3A 30 31
  • 88 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Myo3a 30 17 31
  • 84.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myo3a 30
  • 84.36 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MYO3A 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYO3A 30 31
  • 71.92 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYO3A 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myo3a 30
  • 65.55 (n)
Zebrafish
(Danio rerio)
Actinopterygii myo3a 30 31
  • 61.83 (n)
OneToOne
Dr.12585 30
Fruit Fly
(Drosophila melanogaster)
Insecta ninaC 30 32
  • 46.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009730 30
  • 46.09 (n)
Species where no ortholog for MYO3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MYO3A: view image

Paralogs for MYO3A Gene

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

Variants for MYO3A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYO3A Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
299651 Conflicting Interpretations: not specified; Nonsyndromic Hearing Loss, Recessive 26,067,085(+) CA/TG
666724 Likely Benign: not specified 26,096,574(+) A/G SYNONYMOUS_VARIANT
666725 Likely Benign: not specified 26,211,958(+) T/C MISSENSE_VARIANT
666876 Uncertain Significance: not specified 26,125,533(+) A/C MISSENSE_VARIANT
667276 Uncertain Significance: not specified 26,157,319(+) A/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MYO3A Gene

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)

Additional Variant Information for MYO3A Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYO3A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 30
  • dfnb30
nonsyndromic hearing loss
  • nonsyndromic deafness
non-syndromic genetic deafness
  • isolated genetic deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness, autosomal dominant 48
  • dfna48
- 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
Open Targets Platform
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 23
  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
  3. 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 41
  4. 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 41
  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 41

Products for MYO3A Gene

  • Signalway ELISA kits for MYO3A

Sources for MYO3A Gene