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Aliases for MYO7A Gene

Aliases for MYO7A Gene

  • Myosin VIIA 2 3 5
  • Myosin VIIA (Usher Syndrome 1B (Autosomal Recessive, Severe)) 2 3
  • USH1B 3 4
  • Unconventional Myosin-VIIa 3
  • MYOVIIA 3
  • DFNA11 3
  • MYU7A 3
  • NSRD2 3
  • DFNB2 3

External Ids for MYO7A Gene

Previous HGNC Symbols for MYO7A Gene

  • USH1B
  • DFNB2
  • DFNA11

Previous GeneCards Identifiers for MYO7A Gene

  • GC11P079166
  • GC11P078378
  • GC11P077062
  • GC11P076565
  • GC11P076516
  • GC11P076839
  • GC11P073136

Summaries for MYO7A Gene

Entrez Gene Summary for MYO7A Gene

  • This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYO7A Gene

MYO7A (Myosin VIIA) is a Protein Coding gene. Diseases associated with MYO7A include Usher Syndrome, Type I and Deafness, Autosomal Recessive 2. Among its related pathways are ERK Signaling and Actin Nucleation by ARP-WASP Complex. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein domain specific binding. An important paralog of this gene is MYO7B.

UniProtKB/Swiss-Prot for MYO7A Gene

  • Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

Gene Wiki entry for MYO7A Gene

Additional gene information for MYO7A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYO7A Gene

Genomics for MYO7A Gene

GeneHancer (GH) Regulatory Elements for MYO7A Gene

Promoters and enhancers for MYO7A 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
GH11J077127 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.3 343 2.8 ATF1 ARID4B SIN3A ZNF2 ZBTB7B ZNF48 YY1 ZNF143 ATF7 SP3 MYO7A PIR53181
GH11J077126 Enhancer 0.7 ENCODE 650.7 -1.2 -1184 0.2 ELF3 CTCF ATF1 SIN3A ZNF2 KDM3A ZSCAN9 CTBP1 MTA3 IKZF5 MYO7A OMP
GH11J077179 Promoter 0.5 EPDnew 662.3 +51.5 51519 0.1 MYO7A PIR53181
GH11J077191 Enhancer 1.2 Ensembl ENCODE 17.3 +63.9 63859 1.3 ATF1 SIN3A YBX1 ZNF2 ZBTB7B YY1 GLIS2 ZNF143 ZFP91 ATF7 INTS4 RPL21P95 ENSG00000255449 MYO7A EMSY GDPD4 PAK1 PIR53181
GH11J077186 Enhancer 1 FANTOM5 ENCODE 18.8 +59.9 59909 3.2 ARID4B ZNF48 RAD21 SCRT2 ZNF143 CREM SMARCA5 ZNF654 RXRA USF2 MYO7A FTH1P16 PIR53181
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYO7A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYO7A gene promoter:
  • STAT3
  • YY1
  • CREB
  • deltaCREB
  • FOXF2

Genomic Locations for MYO7A Gene

Genomic Locations for MYO7A Gene
chr11:77,128,214-77,215,241
(GRCh38/hg38)
Size:
87,028 bases
Orientation:
Plus strand
chr11:76,839,310-76,926,286
(GRCh37/hg19)
Size:
86,977 bases
Orientation:
Plus strand

Genomic View for MYO7A Gene

Genes around MYO7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYO7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYO7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO7A Gene

Proteins for MYO7A Gene

  • Protein details for MYO7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13402-MYO7A_HUMAN
    Recommended name:
    Unconventional myosin-VIIa
    Protein Accession:
    Q13402
    Secondary Accessions:
    • B9A011
    • F8VUN5
    • P78427
    • Q13321
    • Q14785
    • Q92821
    • Q92822

    Protein attributes for MYO7A Gene

    Size:
    2215 amino acids
    Molecular mass:
    254390 Da
    Quaternary structure:
    • Might homodimerize in a two headed molecule through the formation of a coiled-coil rod (By similarity). Identified in a complex with USH1C and USH1G (PubMed:21709241). Interacts with MYRIP (PubMed:11964381). Interacts with RPE65 (PubMed:21493626). Interacts with CIB2 (PubMed:23023331). May interact with CALM (PubMed:15300860). Interacts with WHRN (By similarity). Interacts with PLEKHB1 (via PH domain) (By similarity). Interacts with PCDH15 (By similarity). Interacts with TWF2 (By similarity). Interacts with USH1G (By similarity). Interacts with Myh9 (By similarity).

    Three dimensional structures from OCA and Proteopedia for MYO7A Gene

    Alternative splice isoforms for MYO7A Gene

neXtProt entry for MYO7A Gene

Post-translational modifications for MYO7A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MYO7A Gene

Domains & Families for MYO7A Gene

Gene Families for MYO7A Gene

Suggested Antigen Peptide Sequences for MYO7A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13402

UniProtKB/Swiss-Prot:

MYO7A_HUMAN :
  • The SAH (single alpha-helix) region is characterized by a high content of charged residues which are predicted to stabilize the alpha-helical structure by ionic bonds.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • The SAH (single alpha-helix) region is characterized by a high content of charged residues which are predicted to stabilize the alpha-helical structure by ionic bonds.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYO7A: view

Function for MYO7A Gene

Molecular function for MYO7A Gene

UniProtKB/Swiss-Prot Function:
Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.
UniProtKB/Swiss-Prot EnzymeRegulation:
ATP hydrolysis is inhibited by Mg(2+), already at a concentration of 0.4 mM.
GENATLAS Biochemistry:
myosin VIIA,145kDa,unconventional,apparently non filamentous,mainly expressed in hair cells of cochlea and pigment epithelium of the retina and testis

Phenotypes From GWAS Catalog for MYO7A Gene

Gene Ontology (GO) - Molecular Function for MYO7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity IDA 21687988
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with MYO7A: view
genes like me logo Genes that share phenotypes with MYO7A: view

Human Phenotype Ontology for MYO7A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYO7A Gene

MGI Knock Outs for MYO7A:
  • Myo7a Myo7a<tm1a(EUCOMM)Wtsi>

Animal Model Products

miRNA for MYO7A Gene

miRTarBase miRNAs that target MYO7A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MYO7A Gene

Localization for MYO7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYO7A Gene

Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Note=In the photoreceptor cells, mainly localized in the inner and base of outer segments as well as in the synaptic ending region (PubMed:8842737). In retinal pigment epithelial cells colocalizes with a subset of melanosomes, displays predominant localization to stress fiber-like structures and some localization to cytoplasmic puncta (PubMed:19643958, PubMed:27331610). Detected at the tip of cochlear hair cell stereocilia (PubMed:21709241). The complex formed by MYO7A, USH1C and USH1G colocalizes with F-actin (PubMed:21709241). {ECO:0000269 PubMed:19643958, ECO:0000269 PubMed:21709241, ECO:0000269 PubMed:27331610, ECO:0000269 PubMed:8842737}.

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 MYO7A gene
Compartment Confidence
cytosol 5
lysosome 5
cytoskeleton 4
plasma membrane 2
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MYO7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IDA 8842737
GO:0001917 photoreceptor inner segment IDA 8842737
GO:0005737 cytoplasm IDA 23704327
GO:0005765 lysosomal membrane IDA 16001398
GO:0005829 cytosol IDA 15300860
genes like me logo Genes that share ontologies with MYO7A: view

Pathways & Interactions for MYO7A Gene

genes like me logo Genes that share pathways with MYO7A: view

Gene Ontology (GO) - Biological Process for MYO7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001845 phagolysosome assembly IEA --
GO:0006886 intracellular protein transport IEA --
GO:0006909 phagocytosis IEA --
GO:0007018 microtubule-based movement IEA --
GO:0007040 lysosome organization IDA 16001398
genes like me logo Genes that share ontologies with MYO7A: view

No data available for SIGNOR curated interactions for MYO7A Gene

Drugs & Compounds for MYO7A Gene

(2) Drugs for MYO7A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for MYO7A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYO7A: view

Transcripts for MYO7A Gene

Unigene Clusters for MYO7A Gene

Myosin VIIA:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYO7A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^
SP1: -
SP2: -
SP3: -
SP4:
SP5:

ExUns: 25a · 25b ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^
SP1: - - -
SP2: - - - -
SP3: - - -
SP4:
SP5:

Relevant External Links for MYO7A Gene

GeneLoc Exon Structure for
MYO7A
ECgene alternative splicing isoforms for
MYO7A

Expression for MYO7A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYO7A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYO7A Gene

This gene is overexpressed in Adrenal Gland (x8.7), Liver (x5.5), Testis (x5.3), and Pituitary (x4.4).

Protein differential expression in normal tissues from HIPED for MYO7A Gene

This gene is overexpressed in Lung (16.3), Adrenal (13.5), Retina (12.7), Liver, secretome (9.6), and Liver (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYO7A Gene



Protein tissue co-expression partners for MYO7A Gene

NURSA nuclear receptor signaling pathways regulating expression of MYO7A Gene:

MYO7A

SOURCE GeneReport for Unigene cluster for MYO7A Gene:

Hs.370421

mRNA Expression by UniProt/SwissProt for MYO7A Gene:

Q13402-MYO7A_HUMAN
Tissue specificity: Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain.

Evidence on tissue expression from TISSUES for MYO7A Gene

  • Eye(4.6)
  • Liver(4.4)
  • Blood(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYO7A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • middle ear
  • nose
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
Limb:
  • forearm
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MYO7A: view

Orthologs for MYO7A Gene

This gene was present in the common ancestor of animals.

Orthologs for MYO7A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYO7A 34 33
  • 97.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYO7A 34 33
  • 92.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MYO7A 34 33
  • 91.99 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYO7A 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myo7a 16 34 33
  • 89.75 (n)
rat
(Rattus norvegicus)
Mammalia Myo7a 33
  • 89.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYO7A 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYO7A 34 33
  • 80.01 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYO7A 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo7a 33
  • 77.74 (n)
zebrafish
(Danio rerio)
Actinopterygii myo7ab 34
  • 80 (a)
OneToMany
myo7aa 34 33
  • 77.43 (n)
OneToMany
myo7a 33
fruit fly
(Drosophila melanogaster)
Insecta ck 34 35 33
  • 62.27 (n)
OneToMany
Myo28B1 35
  • 52 (a)
d 35
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea hum-6 34 35
  • 52 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
OneToMany
Cin.9710 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9710 33
Species where no ortholog for MYO7A 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 MYO7A Gene

ENSEMBL:
Gene Tree for MYO7A (if available)
TreeFam:
Gene Tree for MYO7A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYO7A: view image

Paralogs for MYO7A Gene

Paralogs for MYO7A Gene

(27) SIMAP similar genes for MYO7A Gene using alignment to 3 proteins:

  • MYO7A_HUMAN
  • B9A012_HUMAN
  • H7C4D8_HUMAN
genes like me logo Genes that share paralogs with MYO7A: view

Variants for MYO7A Gene

Sequence variations from dbSNP and Humsavar for MYO7A Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1020091022 uncertain-significance, Retinitis pigmentosa-deafness syndrome, Nonsyndromic Hearing Loss, Recessive, Nonsyndromic Hearing Loss, Dominant 77,156,760(+) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1052030 benign, likely-benign, not specified, not provided, Nonsyndromic Hearing Loss, Dominant, Retinitis pigmentosa-deafness syndrome, Nonsyndromic Hearing Loss, Recessive 77,142,737(+) T/A/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs1052032 uncertain-significance, not specified, Retinitis pigmentosa-deafness syndrome, Nonsyndromic Hearing Loss, Recessive, Nonsyndromic Hearing Loss, Dominant 77,180,405(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1060499651 pathogenic, Deafness, autosomal recessive 2 77,156,754(+) GT/ coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1060499716 likely-pathogenic, Usher syndrome, type 1 77,157,397(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MYO7A Gene

Variant ID Type Subtype PubMed ID
dgv1230n100 CNV gain 25217958
dgv1231n100 CNV gain 25217958
dgv1232n100 CNV gain 25217958
dgv1233n100 CNV gain 25217958
esv1675994 CNV insertion 17803354
esv23051 CNV loss 19812545
esv2663556 CNV deletion 23128226
esv2744803 CNV deletion 23290073
esv2744804 CNV deletion 23290073
esv2744805 CNV deletion 23290073
esv2744806 CNV deletion 23290073
esv2744809 CNV deletion 23290073
esv2744810 CNV deletion 23290073
esv3262 CNV loss 18987735
esv3413403 CNV duplication 20981092
esv3430057 CNV duplication 20981092
esv3548024 CNV deletion 23714750
nsv1047361 CNV gain 25217958
nsv1049476 CNV gain 25217958
nsv1119420 CNV insertion 24896259
nsv1119895 CNV deletion 24896259
nsv1119896 CNV deletion 24896259
nsv1120248 CNV tandem duplication 24896259
nsv1151506 CNV insertion 26484159
nsv509434 CNV insertion 20534489
nsv513327 CNV insertion 21212237
nsv528593 CNV loss 19592680
nsv555450 CNV loss 21841781
nsv555451 CNV loss 21841781
nsv825998 CNV gain 20364138

Variation tolerance for MYO7A Gene

Residual Variation Intolerance Score: 90.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.34; 96.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYO7A Gene

Human Gene Mutation Database (HGMD)
MYO7A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYO7A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYO7A Gene

Disorders for MYO7A Gene

MalaCards: The human disease database

(47) MalaCards diseases for MYO7A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
usher syndrome, type i
  • ush1
deafness, autosomal recessive 2
  • dfnb2
deafness, autosomal dominant 11
  • dfna11
usher syndrome
  • retinitis pigmentosa-deafness syndrome
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
- elite association - COSMIC cancer census association via MalaCards
Search MYO7A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYO7A_HUMAN
  • Usher syndrome 1B (USH1B) [MIM:276900]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. {ECO:0000269 PubMed:10094549, ECO:0000269 PubMed:10364543, ECO:0000269 PubMed:10447383, ECO:0000269 PubMed:10930322, ECO:0000269 PubMed:12112664, ECO:0000269 PubMed:15660226, ECO:0000269 PubMed:16679490, ECO:0000269 PubMed:23559863, ECO:0000269 PubMed:24831256, ECO:0000269 PubMed:25798947, ECO:0000269 PubMed:7870171, ECO:0000269 PubMed:8900236, ECO:0000269 PubMed:9002678, ECO:0000269 PubMed:9382091, ECO:0000269 PubMed:9718356}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060]: 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:28281779, ECO:0000269 PubMed:9171832, ECO:0000269 PubMed:9171833}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317]: 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. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression. {ECO:0000269 PubMed:15121790, ECO:0000269 PubMed:15221449, ECO:0000269 PubMed:15300860, ECO:0000269 PubMed:9354784}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MYO7A

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 MYO7A: view

No data available for Genatlas for MYO7A Gene

Publications for MYO7A Gene

  1. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PMID: 15660226) Ouyang XM … Liu XZ (Human genetics 2005) 3 4 22 44 58
  2. Identification of novel variants in the Myosin VIIA gene of patients with nonsyndromic hearing loss from Taiwan. (PMID: 19299023) Su MC … Li SY (International journal of pediatric otorhinolaryngology 2009) 3 22 44 58
  3. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PMID: 19320733) Fernandez LP … Ribas G (Experimental dermatology 2009) 3 22 44 58
  4. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. (PMID: 16679490) Roux AF … French Usher Syndrome Collaboration (Journal of medical genetics 2006) 3 4 22 58
  5. Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation. (PMID: 15121790) Street VA … Kiemele KL (Journal of medical genetics 2004) 3 4 22 58

Products for MYO7A Gene

Sources for MYO7A Gene

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