MYO15A Gene (Protein Coding)

Myosin XVA

GC17P018108
GIFtS:
36
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 deafn... See more...

Aliases for MYO15A Gene

Aliases for MYO15A Gene

  • Myosin XVA 2 3 5
  • Unconventional Myosin-XV 3 4
  • Unconventional Myosin-15 3 4
  • MYO15 3 4
  • Myosin-XV 3
  • MYO15A 5
  • 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 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are ERK Signaling and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include actin binding and motor activity. An important paralog of this gene is MYO7B.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for MYO15A Gene

Genomics for MYO15A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.3 +49.5 49486 2 SP1 ELF1 SIN3A KLF7 ZEB2 GABPA KLF9 SMARCA5 SP2 PRDM10 MYO15A LLGL1 SHMT1 HSALNG0115019 ALKBH5 lnc-TOP3A-1
GH17J018108 Enhancer 0.4 Ensembl 250.7 -0.4 -405 0.6 GLIS1 HIC1 POLR2A MYO15A NONHSAG021039.2 SREBF1 DRG2 ENSG00000279428 LOC105371566
GH17J018110 Enhancer 0.3 Ensembl 250.7 +1.8 1795 0.2 SP1 ENSG00000279428 MYO15A piR-56497-064 LOC105371566 ALKBH5
GH17J018181 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 23.8 +76.4 76374 8 ZSCAN16 CHD2 TBP ZBTB10 MXD4 BCL11A SP1 FEZF1 CEBPA NR2C1 ALKBH5 ENSG00000266677 lnc-FLII-3 piR-41967 MYO15A SMCR8 MIEF2 FOXO3B SHMT1 ZNF286B
GH17J018223 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.4 +116.9 116915 3.6 SP1 MXD4 SIX5 ETS1 ZFP64 ZNF217 KDM6A THAP11 SIN3A NFATC3 LLGL1 piR-41012 SMCR8 TOP3A MYO15A SHMT1 MIEF2 FAM106A ENSG00000262202 DRG2
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYO15A

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

Genomic Locations for MYO15A Gene

Latest Assembly
chr17:18,108,706-18,180,244
(GRCh38/hg38)
Size:
71,539 bases
Orientation:
Plus strand

Previous Assembly
chr17:18,012,070-18,083,114
(GRCh37/hg19 by Entrez Gene)
Size:
71,045 bases
Orientation:
Plus strand

chr17:18,012,020-18,083,116
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for MYO15A Gene

Proteins for MYO15A Gene

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  • 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.

    Three dimensional structures from OCA and Proteopedia for MYO15A Gene

    Alternative splice isoforms for MYO15A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYO15A Gene

Protein Expression for MYO15A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MYO15A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYO15A Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for MYO15A Gene

InterPro:
Blocks:
  • SH3 domain signature
  • Variant SH3
  • IQ calmodulin-binding region
  • Core domain in kinesin and myosin motor
ProtoNet:

Suggested Antigen Peptide Sequences for MYO15A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55985, highly similar to Myosin-15 (B4DLV9_HUMAN)
  • cDNA FLJ50584, highly similar to Myosin-15 (B4DMU9_HUMAN)
  • cDNA FLJ50392, highly similar to Myosin-15 (B4DQJ3_HUMAN)
  • cDNA FLJ51961, highly similar to Myosin-15 (B7Z6L1_HUMAN)
  • Unconventional myosin-15 (MYO15_HUMAN)

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

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  6. Cell Lines for research

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:0000146 microfilament motor activity IBA 21873635
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein 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 Models for research

Inhibitory RNAs for research

  • 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 4
cytoskeleton 4
nucleus 3
cytosol 3
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYO15A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0015629 actin cytoskeleton IBA 21873635
GO:0016459 myosin complex IEA --
GO:0031982 vesicle IBA 21873635
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

PathCards logo

SuperPathways for MYO15A Gene

SuperPathway Contained pathways
1 PAK Pathway
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
Epithelial Adherens Junctions
.36
2 Actin Nucleation by ARP-WASP Complex
Actin Nucleation by ARP-WASP Complex
.66
RhoA Pathway
.35
3 RhoGDI Pathway
Fc-GammaR-Mediated Phagocytosis in Macrophages
.33
RhoGDI Pathway
.33
4 Sweet Taste Signaling
Cellular Effects of Sildenafil
.46
5 Sertoli-Sertoli Cell Junction Dynamics
Epithelial Tight Junctions
.36
genes like me logo Genes that share pathways with MYO15A: view

Pathways by source for MYO15A Gene

11 Qiagen pathways for MYO15A 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 MYO15A Gene

Selected Interacting proteins: Q9UKN7-MYO15_HUMAN for MYO15A Gene via IID

GPS-Prot Interaction Network for MYO15A

Gene Ontology (GO) - Biological Process for MYO15A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IBA 21873635
GO:0007605 sensory perception of sound IEA --
GO:0007626 locomotory behavior IEA --
GO:0030050 vesicle transport along actin filament IBA 21873635
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

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No Compound Related Data Available

Transcripts for MYO15A Gene

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mRNA/cDNA for MYO15A Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • 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

Expression for MYO15A Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for MYO15A Gene
mRNA expression by BioGPS for MYO15A GenemRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Blood(2.3)

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

Primer products for research

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 30 31
  • 99.16 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MYO15A 30 31
  • 86.28 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MYO15A 30 31
  • 84.99 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MYO15A 31
  • 83 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Myo15 30 17 31
  • 82.06 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Myo15a 30
  • 81.06 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MYO15A 31
  • 65 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MYO15A 30 31
  • 67.68 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MYO15A 31
  • 65 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia myo15a 30
  • 61.43 (n)
Zebrafish
(Danio rerio)
 Actinopterygii myo15aa 30 31
  • 65.06 (n)
 OneToMany
myo15ab 31
  • 56 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta Myo10A 32
  • 42 (a)
d 31
  • 22 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea hum-4 31 32
  • 22 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.2003 31
  • 30 (a)
 OneToMany
Species where no ortholog for MYO15A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYO15A Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
813827 Pathogenic: Deafness, autosomal recessive 3 18,151,485(+) AGTACCAGCAGCCGTT
NM_016239.4(MYO15A):c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC 		SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR
869466 Likely Pathogenic: Deafness, autosomal recessive 3 18,172,184(+) GCTC/G
NM_016239.4(MYO15A):c.10247_10249CCT[1] (p.Ser3417del) 		INFRAME_DELETION
869467 Likely Pathogenic: Deafness, autosomal recessive 3 18,173,923(+) T/C
NM_016239.4(MYO15A):c.10491+2T>C 		SPLICE_DONOR
869471 Pathogenic/Likely Pathogenic: Deafness, autosomal recessive 3; not provided 18,133,255(+) G/A
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) 		MISSENSE
869472 Likely Pathogenic: Deafness, autosomal recessive 3 18,141,069(+) AG/A
NM_016239.4(MYO15A):c.5461del (p.Val1821fs) 		FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYO15A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for MYO15A Gene

MalaCards: The human disease database

(56) MalaCards diseases for MYO15A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal recessive 3
  • dfnb3
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
nonsyndromic hearing loss
  • isolated deafness
rare genetic deafness
  • rare genetic hearing loss
non-syndromic genetic deafness
  • isolated genetic deafness
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for MYO15A

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23 74
  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 23 74
  3. MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. (PMID: 17853461) Kalay E … Kremer H (American journal of medical genetics. Part A 2007) 3 23 74
  4. Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing. (PMID: 17546645) Nal N … Friedman TB (Human mutation 2007) 3 23 74
  5. 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 23

ExternalLinks

View latest publications for MYO15A gene in Mastermind

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