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Dok7
Gene Detail
Symbol

Name
ID
Dok7
docking protein 7
MGI:3584043
Synonyms
A930013K19Rik, Dok-7, EF-12, Oit5
Feature Type
protein coding gene
Genetic Map
Chromosome 5
18.00 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr5:35056813-35087839 bp, + strand
From VEGA annotation of GRCm38

  31027 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:18210  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog

HCOP human homology predictions: DOK7
Gene Tree: Dok7

Human
homologs
DOK7, docking protein 7
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 285489
neXtProt AC: NX_Q18PE1

Human Synonyms: C4orf25, CMS10, CMS1B

Human Chr (Location): 4p16.3; chr4:3463306-3501476 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human DOK7

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Chemically induced (ENU)(1) Radiation induced(5) Targeted(4)
Genomic Mutations involving Dok7 (6)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous mutation of this gene results in death shortly after birth, impaired neuromuscular synaptogenesis and akinesia.
 
Human Diseases Modeled in Mice Using Dok7 (1)    Mutations Annotated to Human Diseases (5)    Phenotype Images(4)
Interactions
Dok7 interacts with 158 markers (Mir10a, Mir10b, Mir22, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process neuromuscular junction development, positive regulation of protein phosphorylation, ...
Component cell junction, membrane, ...
Function insulin receptor binding, lipid binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (12)    Tissues (12)    Tissue x Stage Matrix (view)
Assay TypeResults
Northern blot 12
cDNA source data(13)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN dok7    NEW 
Molecular
reagents
All nucleic(14) Genomic(1) cDNA(13)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000022794 (Evidence)
Ensembl Gene Model ENSMUSG00000044716 (Evidence)
Entrez Gene 231134 (Evidence)
UniGene 205483
DFCI TC1590875, TC1581722
DoTS DT.101165588, DT.40175217, DT.55248964
NIA Mouse Gene Index U005496
PDB 3ML4
Consensus CDS Project CCDS19224.1
International Mouse Phenotyping Consortium Status Dok7
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022794 VEGA Gene Model | MGI Sequence Detail 31027 C57BL/6J ±  kb
transcript OTTMUST00000054759 VEGA | MGI Sequence Detail 2498 Not Applicable 
polypeptide OTTMUSP00000026162 VEGA | MGI Sequence Detail 570 Not Applicable 

For the selected sequences
All sequences(49) RefSeq(8) UniProt(3)
Polymorphisms
SNPs within 2kb(108 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002404 Insulin receptor substrate-1, PTB
InterPro IPR001849 Pleckstrin homology domain
InterPro IPR011993 Pleckstrin homology-like domain
Protein Ontology PR:000006634 protein Dok-7
References
(Earliest) J:44165 Fu X, et al., E2a-Pbx1 induces aberrant expression of tissue-specific and developmentally regulated genes when expressed in NIH 3T3 fibroblasts. Mol Cell Biol. 1997 Mar;17(3):1503-12
(Latest) J:213767 Arimura S, et al., Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction. Science. 2014 Sep 19;345(6203):1505-8
All references(34)
Disease annotation references (1)
Other
accession IDs
MGI:1201798, MGI:2141134

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory