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Aliases for MYO15A Gene

Aliases for MYO15A Gene

  • Myosin XVA 2 3 5
  • Unconventional Myosin-15 3 4
  • MYO15 3 4
  • Unconventional Myosin-XV 3
  • Myosin-XV 3
  • DFNB3 3

External Ids for MYO15A Gene

Previous HGNC Symbols for MYO15A Gene

  • DFNB3
  • MYO15

Previous GeneCards Identifiers for MYO15A Gene

  • GC17P018257
  • GC17P019384
  • GC17P017955
  • GC17P018212
  • GC17P017952
  • GC17P018012
  • GC17P017765

Summaries for MYO15A Gene

Entrez Gene Summary for MYO15A Gene

  • This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYO15A Gene

MYO15A (Myosin XVA) is a Protein Coding gene. Diseases associated with MYO15A include Deafness, Autosomal Recessive 3 and Nonsyndromic Deafness. Among its related pathways are PAK Pathway and Sweet Taste Signaling. GO annotations related to this gene include actin binding and motor activity. An important paralog of this gene is MYO15B.

UniProtKB/Swiss-Prot for MYO15A Gene

  • Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles (By similarity).

Gene Wiki entry for MYO15A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO15A Gene

Genomics for MYO15A Gene

Regulatory Elements for MYO15A Gene

Enhancers for MYO15A 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
GH17G018181 1.7 FANTOM5 ENCODE dbSUPER 23.8 +76.4 76374 8.0 CREB3L1 MLX ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 ZNF286B SMCR8 SMCR5 FOXO3B MYO15A DRG2 LLGL1 ENSG00000264885 MIEF2 FAM106A
GH17G018223 1.3 ENCODE dbSUPER 11.4 +116.6 116551 2.8 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF48 ETS1 LLGL1 SMCR8 SHMT1 MIEF2 ENSG00000273018 FOXO3B DRG2 MYO15A RPL21P121 TOP3A
GH17G018246 1.4 Ensembl ENCODE dbSUPER 8.5 +139.2 139203 3.1 HDAC1 HDGF PKNOX1 ARID4B KLF17 RAD21 ZEB1 GLIS2 ZNF143 DEK LLGL1 SHMT1 MYO15A GC17M018245
GH17G018070 1 Ensembl ENCODE 11.6 -37.7 -37659 0.6 L3MBTL2 ZNF511 NFRKB NR4A1 ZBTB11 MAX MNT RBBP5 ZNF592 POLR2A MYO15A DRG2 GID4
GH17G018256 1.4 ENCODE dbSUPER 8 +150.8 150821 6.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 SHMT1 LLGL1 MIEF2 FAM106A FOXO3B SMCR8 ENSG00000264885 ENSG00000262202 DRG2 MYO15A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYO15A on UCSC Golden Path with GeneCards custom track

Genomic Location for MYO15A Gene

Chromosome:
17
Start:
18,108,706 bp from pter
End:
18,180,225 bp from pter
Size:
71,520 bases
Orientation:
Plus strand

Genomic View for MYO15A Gene

Genes around MYO15A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO15A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO15A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO15A Gene

Proteins for MYO15A Gene

  • Protein details for MYO15A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKN7-MYO15_HUMAN
    Recommended name:
    Unconventional myosin-XV
    Protein Accession:
    Q9UKN7
    Secondary Accessions:
    • B4DFC7

    Protein attributes for MYO15A Gene

    Size:
    3530 amino acids
    Molecular mass:
    395293 Da
    Quaternary structure:
    • Interacts with the third PDZ domain of WHRN which is necessary for localization of WHRN to stereocilium tips. Interacts with EPS8 (By similarity). Interacts with FASLG.

    Alternative splice isoforms for MYO15A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO15A Gene

Post-translational modifications for MYO15A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MYO15A Gene

Domains & Families for MYO15A Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKN7

UniProtKB/Swiss-Prot:

MYO15_HUMAN :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO15A: view

Function for MYO15A Gene

Molecular function for MYO15A Gene

UniProtKB/Swiss-Prot Function:
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. Required for the arrangement of stereocilia in mature hair bundles (By similarity).

Gene Ontology (GO) - Molecular Function for MYO15A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MYO15A: view
genes like me logo Genes that share phenotypes with MYO15A: view

Human Phenotype Ontology for MYO15A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYO15A Gene

MGI Knock Outs for MYO15A:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for MYO15A Gene

Localization for MYO15A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO15A Gene

Cell projection, stereocilium. Cytoplasm, cytoskeleton. Note=Localizes to stereocilium tips in cochlear and vestibular hair cells. {ECO:0000250}.

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 MYO15A gene
Compartment Confidence
extracellular 5
cytoskeleton 4
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for MYO15A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0016459 myosin complex IEA --
GO:0032420 stereocilium IEA --
GO:0032421 stereocilium bundle IEA --
genes like me logo Genes that share ontologies with MYO15A: view

Pathways & Interactions for MYO15A Gene

genes like me logo Genes that share pathways with MYO15A: view

Gene Ontology (GO) - Biological Process for MYO15A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA,TAS --
GO:0007626 locomotory behavior IEA --
GO:0042472 inner ear morphogenesis IEA --
genes like me logo Genes that share ontologies with MYO15A: view

No data available for SIGNOR curated interactions for MYO15A Gene

Drugs & Compounds for MYO15A Gene

No Compound Related Data Available

Transcripts for MYO15A Gene

Unigene Clusters for MYO15A Gene

Myosin XVA:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYO15A Gene

No ASD Table

Relevant External Links for MYO15A Gene

GeneLoc Exon Structure for
MYO15A
ECgene alternative splicing isoforms for
MYO15A

Expression for MYO15A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYO15A Gene

mRNA differential expression in normal tissues according to GTEx for MYO15A Gene

This gene is overexpressed in Pituitary (x34.5).

Protein differential expression in normal tissues from HIPED for MYO15A Gene

This gene is overexpressed in Urine (67.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYO15A Gene



Protein tissue co-expression partners for MYO15A Gene

NURSA nuclear receptor signaling pathways regulating expression of MYO15A Gene:

MYO15A

SOURCE GeneReport for Unigene cluster for MYO15A Gene:

Hs.462390

mRNA Expression by UniProt/SwissProt for MYO15A Gene:

Q9UKN7-MYO15_HUMAN
Tissue specificity: Highly expressed in pituitary. Also expressed at lower levels in adult brain, kidney, liver, lung, pancreas, placenta and skeletal muscle. Not expressed in brain. In the pituitary, highly expressed in anterior gland cells.

Evidence on tissue expression from TISSUES for MYO15A Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO15A 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 MYO15A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MYO15A Gene

Orthologs for MYO15A Gene

This gene was present in the common ancestor of animals.

Orthologs for MYO15A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYO15A 34 35
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia MYO15A 34 35
  • 86.28 (n)
cow
(Bos Taurus)
Mammalia MYO15A 34 35
  • 84.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYO15A 35
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myo15 34 16 35
  • 82.06 (n)
rat
(Rattus norvegicus)
Mammalia Myo15a 34
  • 81.06 (n)
oppossum
(Monodelphis domestica)
Mammalia MYO15A 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO15A 34 35
  • 67.68 (n)
lizard
(Anolis carolinensis)
Reptilia MYO15A 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo15a 34
  • 61.43 (n)
zebrafish
(Danio rerio)
Actinopterygii myo15aa 34 35
  • 65.06 (n)
myo15ab 35
  • 56 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Myo10A 36
  • 42 (a)
d 35
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hum-4 36 35
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2003 35
  • 30 (a)
OneToMany
Species where no ortholog for MYO15A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 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)

Evolution for MYO15A Gene

ENSEMBL:
Gene Tree for MYO15A (if available)
TreeFam:
Gene Tree for MYO15A (if available)

Paralogs for MYO15A Gene

Variants for MYO15A Gene

Sequence variations from dbSNP and Humsavar for MYO15A Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs121908965 Pathogenic, Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316] 18,145,935(+) ACTAC(A/T)TCGTG reference, missense
rs121908966 Pathogenic, Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316] 18,145,929(+) TCGGG(A/T)ACTAC reference, missense
rs121908969 Pathogenic, Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316] 18,154,190(+) CGGCA(G/T)GTGAG nc-transcript-variant, upstream-variant-2KB, reference, missense
VAR_071648 Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]
rs1057519604 Pathogenic 18,148,940(+) CAGGG(-/G)AGGCC intron-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for MYO15A Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER inversion 15895083
nsv457697 CNV loss 19166990
nsv470580 CNV loss 18288195
nsv499114 OTHER inversion 21111241
nsv510702 CNV deletion 20534489
nsv574527 CNV loss 21841781
nsv827912 CNV gain 20364138
nsv953839 CNV deletion 24416366

Variation tolerance for MYO15A Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.09; 97.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYO15A Gene

Human Gene Mutation Database (HGMD)
MYO15A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO15A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO15A Gene

Disorders for MYO15A Gene

MalaCards: The human disease database

(20) MalaCards diseases for MYO15A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 3
  • deafness, autosomal recessive, 3
nonsyndromic deafness
  • nonsyndromic hearing loss
dfnb 3 nonsyndromic hearing loss and deafness
  • dfnb3 nonsyndromic hearing loss and deafness
nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MYO15_HUMAN
  • Deafness, autosomal recessive, 3 (DFNB3) [MIM:600316]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:11735029, ECO:0000269 PubMed:24926664, ECO:0000269 PubMed:9603736}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYO15A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYO15A
genes like me logo Genes that share disorders with MYO15A: view

No data available for Genatlas for MYO15A Gene

Publications for MYO15A Gene

  1. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. (PMID: 9603736) Wang A. … Friedman T.B. (Science 1998) 2 3 4 22 64
  2. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. (PMID: 11735029) Liburd N. … Friedman T.B. (Hum. Genet. 2001) 3 4 22 64
  3. Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. (PMID: 10552926) Liang Y. … Fridell R.A. (Genomics 1999) 3 4 22 64
  4. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M. … Janssen O. (BMC Immunol. 2009) 3 4 64
  5. Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. (PMID: 19274735) Shearer A.E. … Najmabadi H. (Laryngoscope 2009) 3 22 64

Products for MYO15A Gene

Sources for MYO15A Gene

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