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; chr11:76839310-76926286 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human MYO7A

Alleles and phenotypes

All alleles(19) : Targeted(4) Spontaneous(4) Chemically induced(11)
 

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 (1)    Alleles Annotated to Human Diseases(11)    Phenotype Images(4)

Gene Ontology (GO) classifications

All GO classifications: (80 annotations)

Process	actin filament-based movement, auditory receptor cell differentiation, ...
Component	apical plasma membrane, cytoplasm, ...
Function	actin binding, actin-dependent ATPase activity, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (86 records)
Data Summary: Results (168)    Tissues (61)    Images (68)
Theiler Stages: 19, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	66
RNA in situ	95
RT-PCR	7

cDNA source data(30)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(38) Genomic(6) cDNA(31) 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 Knockout Project Status	Myo7a

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017631	VEGA Gene Model | MGI Sequence Detail	68465	C57BL/6J
transcript	OTTMUST00000042817	VEGA | MGI Sequence Detail	7506	Not Applicable
polypeptide	OTTMUSP00000019224	VEGA | MGI Sequence Detail	2215	Not Applicable

All sequences(71) RefSeq(8) UniProt(4)

Polymorphisms

RFLP(1) : SNPs(460 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	IPR018979	FERM, N-terminal
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	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:193641 Nakano Y, et al., A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse. PLoS Genet. 2012;8(10):e1002966
All references(215)

Other accession IDs

MGD-MRK-14391, MGD-MRK-14393, MGD-MRK-25940, MGD-MRK-25941, MGI:1891335, MGI:3587416, MGI:3708140