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Aliases for MYO7A Gene

Aliases for MYO7A Gene

  • Myosin VIIA 2 3
  • USH1B 3 4 6
  • Myosin VIIA (Usher Syndrome 1B (Autosomal Recessive, Severe)) 2 3
  • DFNA11 3 6
  • DFNB2 3 6
  • Unconventional Myosin-VIIa 3
  • MYOVIIA 3
  • MYU7A 3
  • NSRD2 3

External Ids for MYO7A Gene

Previous Symbols for MYO7A Gene

  • USH1B
  • DFNB2
  • DFNA11

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 1b and deafness, autosomal dominant 11. Among its related pathways are RhoGDI Pathway and Signaling by GPCR. GO annotations related to this gene include calmodulin binding and protein dimerization activity. 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

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

Genomics for MYO7A Gene

Genomic Location for MYO7A Gene

Start:
77,128,256 bp from pter
End:
77,215,241 bp from pter
Size:
86,986 bases
Orientation:
Plus strand

Genomic View for MYO7A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYO7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYO7A Gene

Regulatory Elements 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:
    • Interacts with PLEKHB1 (via PH domain). Interacts with PCDH15. Interacts with RPE65. Interacts with TWF2 (By similarity). Might homodimerize in a two headed molecule through the formation of a coiled-coil rod. May interact with CALM. Binds MYRIP and WHRN. Identified in a complex with USH1C and USH1G.

    Alternative splice isoforms for MYO7A Gene

neXtProt entry for MYO7A Gene

Proteomics data for MYO7A Gene at MOPED

Post-translational modifications for MYO7A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYO7A Gene

No data available for DME Specific Peptides for MYO7A Gene

Domains for MYO7A Gene

Gene Families for MYO7A Gene

HGNC:
  • AKAP :A-kinase anchor proteins
  • MYOVII :Myosins / Myosin superfamily : Class VII

UniProtKB/Swiss-Prot:

MYO7A_HUMAN
Domain:
  • Contains 2 FERM domains.:
    • Q13402
  • Contains 5 IQ domains.:
    • Q13402
  • Contains 1 myosin motor domain.:
    • Q13402
  • Contains 2 MyTH4 domains.:
    • Q13402
  • Contains 1 SH3 domain.:
    • Q13402
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.:
    • Q13402
genes like me logo Genes that share domains with MYO7A: view

Function for MYO7A Gene

Molecular function for MYO7A Gene

GENATLAS Biochemistry: myosin VIIA,145kDa,unconventional,apparently non filamentous,mainly expressed in hair cells of cochlea and pigment epithelium of the retina and testis
UniProtKB/Swiss-Prot EnzymeRegulation: ATP hydrolysis is inhibited by Mg(2+), already at a concentration of 0.4 mM.
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.

Gene Ontology (GO) - Molecular Function for MYO7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity IDA 21687988
GO:0003774 motor activity --
GO:0003779 actin binding --
GO:0005515 protein binding IPI 11964381
GO:0005516 calmodulin binding IMP 15300860
genes like me logo Genes that share ontologies with MYO7A: view
genes like me logo Genes that share phenotypes with MYO7A: view

miRNA for MYO7A Gene

miRTarBase miRNAs that target MYO7A

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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. Colocalizes with a subset of melanosomes in retinal pigment epithelium cells. Detected at the tip of cochlear hair cell stereocilia. The complex formed by MYO7A, USH1C and USH1G colocalizes with F-actin.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYO7A Gene COMPARTMENTS Subcellular localization image for MYO7A gene
Compartment Confidence
cytoskeleton 5
cytosol 5
lysosome 5
vacuole 5
plasma membrane 2
mitochondrion 1
nucleus 1

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 --
GO:0005765 lysosomal membrane IDA 16001398
GO:0005829 cytosol IDA 15300860
genes like me logo Genes that share ontologies with MYO7A: view

Pathways 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:0006200 obsolete ATP catabolic process --
GO:0006886 intracellular protein transport IEA --
GO:0006909 phagocytosis --
GO:0007040 lysosome organization IDA 16001398
genes like me logo Genes that share ontologies with MYO7A: view

Compounds for MYO7A Gene

(4) Novoseek inferred chemical compound relationships for MYO7A Gene

Compound -log(P) Hits PubMed IDs
actomyosin 40 1
gentamicin 24 2
adp 5.35 2
calcium 5.21 1
genes like me logo Genes that share compounds with MYO7A: view

Transcripts for MYO7A Gene

Unigene Clusters for MYO7A Gene

Myosin VIIA:
Representative Sequences:

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 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 (8.7), Liver (5.5), Testis (5.3), and Pituitary (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MYO7A Gene

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.
genes like me logo Genes that share expressions 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 36
  • 97.95 (n)
  • 97.63 (a)
MYO7A 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYO7A 36
  • 92.44 (n)
  • 97.38 (a)
MYO7A 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYO7A 36
  • 91.99 (n)
  • 97.52 (a)
MYO7A 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myo7a 36
  • 89.75 (n)
  • 96.57 (a)
Myo7a 16
Myo7a 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYO7A 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYO7A 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myo7a 36
  • 89.62 (n)
  • 96.1 (a)
chicken
(Gallus gallus)
Aves MYO7A 36
  • 80.01 (n)
  • 89.18 (a)
MYO7A 37
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYO7A 37
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myo7a 36
  • 77.74 (n)
  • 86.96 (a)
zebrafish
(Danio rerio)
Actinopterygii myo7a 36
myo7aa 36
  • 77.43 (n)
  • 85.2 (a)
myo7aa 37
  • 85 (a)
OneToMany
myo7ab 37
  • 80 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta ck 36
  • 62.27 (n)
  • 63.49 (a)
ck 37
  • 63 (a)
OneToMany
d 38
  • 26 (a)
ck 38
  • 61 (a)
Myo28B1 38
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea hum-6 37
  • 52 (a)
OneToMany
hum-6 38
  • 49 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9710 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 58 (a)
OneToMany
Species with no ortholog for MYO7A:
  • 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)

Paralogs for MYO7A Gene

Paralogs for MYO7A Gene

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 Sequence Context AA Info Type MAF
rs762666 Benign 77,156,857(+) CACTC(C/T)GCAGC intron-variant
rs762667 Benign 77,157,326(+) GAGGG(C/T)ATGAG synonymous-codon, reference
rs867505 -- 77,195,296(-) CCTCG(A/G)GGGAA intron-variant
rs867506 -- 77,195,162(-) GAGGT(A/G)GAGGG intron-variant
rs867507 -- 77,195,057(-) CGGCC(C/T)TGGGT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1225n71 CNV Loss 21882294
nsv825998 CNV Gain 20364138
nsv509434 CNV Insertion 20534489
nsv897935 CNV Loss 21882294
nsv528593 CNV Loss 19592680
nsv897936 CNV Loss 21882294
esv2744803 CNV Deletion 23290073
esv2744804 CNV Deletion 23290073
esv2744805 CNV Deletion 23290073
esv3262 CNV Deletion 18987735
esv2744806 CNV Deletion 23290073
esv2744809 CNV Deletion 23290073
esv23051 CNV Loss 19812545
esv2744810 CNV Deletion 23290073
esv1675994 CNV Insertion 17803354
esv2663556 CNV Deletion 23128226

Relevant External Links for MYO7A Gene

HapMap Linkage Disequilibrium report
MYO7A
Human Gene Mutation Database (HGMD)
MYO7A
Locus Specific Mutation Databases (LSDB)
MYO7A

Disorders for MYO7A Gene

(3) OMIM Diseases for MYO7A Gene (276903)

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: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: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.
  • Note=Defects in MYO7A may be a cause of Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

(13) Novoseek inferred disease relationships for MYO7A Gene

Disease -log(P) Hits PubMed IDs
usher syndrome 97.6 47
dfnb2 96.7 13
dfna11 95.7 10
congenital deafness 87.8 2
retinitis pigmentosa 85.7 4

Relevant External Links for MYO7A

GeneTests
MYO7A
GeneReviews
MYO7A
Genetic Association Database (GAD)
MYO7A
Human Genome Epidemiology (HuGE) Navigator
MYO7A
genes like me logo Genes that share disorders with MYO7A: view

Publications for MYO7A Gene

  1. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PMID: 15660226) Ouyang X.M. … Liu X.Z. (Hum. Genet. 2005) 3 4 23 49
  2. 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 A.-F. … Claustres M. (J. Med. Genet. 2006) 3 4 23
  3. Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). (PMID: 15300860) Bolz H. … Gal A. (Hum. Mutat. 2004) 3 4 23
  4. Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation. (PMID: 15121790) Street V.A. … Kiemele K.L. (J. Med. Genet. 2004) 3 4 23
  5. [Mutation screening in selected exons of myosin 7a gene in prelingual non-syndromic hearing impairment patients]. (PMID: 15606003) Hu P. … Xia K. (Zhonghua Er Bi Yan Hou Ke Za Zhi 2004) 3 23 49

Products for MYO7A Gene

Sources for MYO7A Gene

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