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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: MYO7A
Gene Tree: Myo7a

Human
homologs
MYO7A, myosin VIIA
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 4647
neXtProt AC: NX_Q13402

Human Synonyms: DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B

Human Chr (Location): 11q13.5; chr11:77128214-77215241 (+)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human MYO7A

Mutations,
alleles, and
phenotypes
All mutations/alleles(23) : Chemically induced (ENU)(14) Spontaneous(5) Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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-inducedphotoreceptor damage have also been observed.
 
Human Diseases Modeled in Mice Using Myo7a (2)    Mutations Annotated to Human Diseases (13)    Phenotype Images(12)
Interactions
Myo7a interacts with 156 markers (Mir10a, Mir10b, Mir15b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (88 annotations)
Process actin filament-based movement, auditory receptor cell differentiation, ...
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: (111 records)
Data Summary: Results (195)    Tissues (67)    Images (76)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 91
RNA in situ 97
RT-PCR 7
cDNA source data(31)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase myo7a ; ZFIN myo7aa    NEW 
Molecular
reagents
All nucleic(39) Genomic(6) cDNA(32) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000017631 (Evidence)
Ensembl Gene Model ENSMUSG00000030761 (Evidence)
Entrez Gene 17921 (Evidence)
UniGene 1403
DFCI TC1596715, TC1600807, TC1602027, TC1679846
DoTS DT.101334766, DT.101724796, DT.482612, DT.97338546
NIA Mouse Gene Index U028879
PDB 3PVL
Consensus CDS Project CCDS40026.1, CCDS57563.1, CCDS57564.1, CCDS57565.1
International Mouse Phenotyping Consortium Status Myo7a
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(86) 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:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
All references(253)
Disease annotation references (11)
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
08/18/2015
MGI 6.0
The Jackson Laboratory