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Myo7a
Gene Detail
 Symbol
Name
ID
Myo7a
myosin VIIA
MGI:104510
Synonyms Hdb, Myo7, nmf371, polka, USH1B
Feature Type protein coding gene
Genetic Map
Chromosome 7
53.57 cM
Detailed Genetic Map ± 1 cM


Mapping data(39)
Sequence Map
Chr7:98051060-98119524 bp, - strand
From VEGA annotation of GRCm38

  68465 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:219  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Myo7a

Human
homologs
Human Homolog MYO7A, myosin VIIA
NCBI Gene ID 4647
neXtProt AC  NX_Q13402
Human Synonyms  DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B
Human Chr (Location)  11q13.5; chr11:77128256-77215241 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human MYO7A
Alleles
and
phenotypes
All alleles(21) : Targeted(4) Spontaneous(4) Chemically induced(13)
 
A number of spontaneous and ENU-induced mutations cause head-shaking, circling and deafness, often associated with cochlear hair cell degeneration and stereocilia anomalies. Defects in retinal pigment epithelial cells, male infertility, and light-induced photoreceptor damage have also been observed.
 
Human Diseases Modeled Using Mouse Myo7a (2)    Alleles Annotated to Human Diseases(12)    Phenotype Images(12)
Gene Ontology
(GO)
classifications
All GO classifications: (87 annotations)
Process actin filament-based movement, ATP catabolic process, ...
Component apical plasma membrane, cell, ...
Function actin binding, actin-dependent ATPase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (97 records)
Data Summary: Results (172)    Tissues (61)    Images (74)
Theiler Stages: 19, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 68
RNA in situ 97
RT-PCR 7
cDNA source data(31)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(39) Genomic(6) cDNA(32) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000017631 (Evidence)
Ensembl Gene ModelENSMUSG00000030761 (Evidence)
Entrez Gene17921 (Evidence)
UniGene1403
DFCITC1596715, TC1600807, TC1602027, TC1679846
DoTSDT.101334766, DT.101724796, DT.482612, DT.97338546
NIA Mouse Gene IndexU028879
PDB3PVL
Consensus CDS ProjectCCDS40026.1, CCDS57563.1, CCDS57564.1, CCDS57565.1
International Mouse Knockout Project StatusMyo7a
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017631 VEGA Gene Model | MGI Sequence Detail 68465 C57BL/6J ±  kb
transcript OTTMUST00000042817 VEGA | MGI Sequence Detail 7506 Not Applicable 
polypeptide OTTMUSP00000019224 VEGA | MGI Sequence Detail 2215 Not Applicable 

For the selected sequences
All sequences(85) RefSeq(22) UniProt(4)
Polymorphisms RFLP(1) : SNPs within 2kb(944 from dbSNP Build 137)    SNPs within 2kb including multiple locations(952)
Protein-related
information
ResourceIDDescription
InterPro IPR019749 Band 4.1 domain
InterPro IPR014352 FERM/acyl-CoA-binding protein, 3-helical bundle
InterPro IPR019748 FERM central domain
InterPro IPR000299 FERM domain
InterPro IPR000048 IQ motif, EF-hand binding site
InterPro IPR001609 Myosin head, motor domain
InterPro IPR000857 MyTH4 domain
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR001452 Src homology-3 domain
Protein Ontology PR:000010869 myosin-VIIa
References (Earliest) J:95 Gates WH, Linkage of the characters albinism and shaker in the house mouse. Anat Rec. 1929;41:104 (S28 Abstr.)
(Latest) J:204919 Colella P, et al., Myosin7a deficiency results in reduced retinal activity which is improved by gene therapy. PLoS One. 2013;8(8):e72027
All references(229)
Other
accession IDs
MGD-MRK-14391, MGD-MRK-14393, MGD-MRK-25940, MGD-MRK-25941, MGI:1891335, MGI:3587416, MGI:3708140

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory