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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 Non-Syndromic Genetic Deafness. Among its related pathways are ERK Signaling and Actin Nucleation by ARP-WASP Complex. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for MYO15A Gene

Promoters and enhancers for MYO15A 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
GH17J018157 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.2 +49.4 49365 1.8 HDGF PKNOX1 ATF1 NFIB SIN3A KLF14 EGR1 SCRT2 ZNF143 KLF7 MYO15A SHMT1 ALKBH5 LOC105371566
GH17J018181 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23.8 +76.4 76374 8 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 CBX5 PIR34966 ENSG00000266677 ALKBH5 SMCR8 MYO15A MIEF2 NOS2P2 FOXO3B SHMT1 TBC1D3P4
GH17J018223 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.4 +116.6 116551 2.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF48 ETS1 GLIS2 LLGL1 PIR34011 SMCR8 TOP3A SHMT1 MIEF2 ENSG00000273018 ENSG00000262202 DRG2 MYO15A
GH17J018256 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 8.1 +150.8 150820 6.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 MIEF2 FLII SHMT1 LLGL1 SMCR8 FOXO3B ENSG00000264885 ENSG00000262202 DRG2 MYO15A
GH17J018152 Promoter/Enhancer 1.2 Ensembl ENCODE 11.5 +45.0 45044 1.7 HDGF CEBPG ZIC2 ZNF2 ZNF335 GLIS2 POLR2A VEZF1 KLF7 PRDM10 LLGL1 SHMT1 ZNF286B MYO15A ALKBH5 LOC105371566
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO15A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYO15A gene promoter:
  • ARP-1
  • NF-Y
  • CBF(2)
  • HNF-3beta
  • Bach1
  • POU6F1 (c2)
  • Egr-3
  • POU2F1a
  • POU2F1
  • SRF

Genomic Locations for MYO15A Gene

Genomic Locations for MYO15A Gene
chr17:18,108,706-18,180,225
(GRCh38/hg38)
Size:
71,520 bases
Orientation:
Plus strand
chr17:18,012,020-18,083,116
(GRCh37/hg19)
Size:
71,097 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

Gene Families for MYO15A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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).

Phenotypes From GWAS Catalog for MYO15A Gene

Gene Ontology (GO) - Molecular Function for MYO15A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IEA --
GO:0005516 calmodulin 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:
  • Myo15 Myo15<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO15A

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYO15A Gene

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:0007018 microtubule-based movement IEA --
GO:0007605 sensory perception of sound IEA --
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

mRNA/cDNA for MYO15A Gene

Unigene Clusters for MYO15A Gene

Myosin XVA:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYO15A

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 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
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 MYO15A: view

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 33
  • 99.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MYO15A 34 33
  • 86.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYO15A 34 33
  • 84.99 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYO15A 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myo15 16 34 33
  • 82.06 (n)
rat
(Rattus norvegicus)
Mammalia Myo15a 33
  • 81.06 (n)
oppossum
(Monodelphis domestica)
Mammalia MYO15A 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO15A 34 33
  • 67.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYO15A 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo15a 33
  • 61.43 (n)
zebrafish
(Danio rerio)
Actinopterygii myo15aa 34 33
  • 65.06 (n)
OneToMany
myo15ab 34
  • 56 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Myo10A 35
  • 42 (a)
d 34
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hum-4 34 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2003 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYO15A: view image

Paralogs for MYO15A Gene

Paralogs for MYO15A Gene

(22) SIMAP similar genes for MYO15A Gene using alignment to 9 proteins:

  • MYO15_HUMAN
  • B4DFC7_HUMAN
  • B4DQJ3_HUMAN
  • G3V4G3_HUMAN
  • G3V4Q3_HUMAN
  • J3QS06_HUMAN
  • K7EL45_HUMAN
  • K7EMS7_HUMAN
  • K7EQV1_HUMAN
genes like me logo Genes that share paralogs with MYO15A: view

Variants for MYO15A Gene

Sequence variations from dbSNP and Humsavar for MYO15A Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs10048161 likely-benign, Nonsyndromic Hearing Loss, Recessive 18,179,482(+) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1006770 benign, uncertain-significance, not specified, Nonsyndromic Hearing Loss, Recessive 18,155,147(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs1057519601 likely-pathogenic, Deafness, autosomal recessive 3 18,171,764(+) G/CCAGGCCCGTGCAGCTC coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs1057519603 likely-pathogenic, Deafness, autosomal recessive 3 18,126,856(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057519604 pathogenic, Deafness, autosomal recessive 3 18,148,937(+) GGGG/GGG coding_sequence_variant, frameshift, genic_downstream_transcript_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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
deafness, autosomal recessive 3
  • dfnb3
non-syndromic genetic deafness
  • isolated genetic deafness
nonsyndromic deafness
  • nonsyndromic hearing loss
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
smith-magenis syndrome
  • sms
- 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.

Additional Disease Information for 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 TB (Science (New York, N.Y.) 1998) 2 3 4 22 58
  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 TB (Human genetics 2001) 3 4 22 58
  3. Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2. (PMID: 10552926) Liang Y … Fridell RA (Genomics 1999) 3 4 22 58
  4. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PMID: 19807924) Voss M … Janssen O (BMC immunology 2009) 3 4 58
  5. Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. (PMID: 19274735) Shearer AE … Najmabadi H (The Laryngoscope 2009) 3 22 58

Products for MYO15A Gene

Sources for MYO15A Gene

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