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Aliases for DOK7 Gene

Aliases for DOK7 Gene

  • Docking Protein 7 2 3
  • C4orf25 3 4 6
  • Downstream Of Tyrosine Kinase 7 3 4
  • CMS1B 3 6
  • Chromosome 4 Open Reading Frame 25 2
  • Protein Dok-7 3

External Ids for DOK7 Gene

Previous Symbols for DOK7 Gene

  • C4orf25

Summaries for DOK7 Gene

Entrez Gene Summary for DOK7 Gene

  • The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

GeneCards Summary for DOK7 Gene

DOK7 (Docking Protein 7) is a Protein Coding gene. Diseases associated with DOK7 include myasthenia, limb-girdle, familial and dok7-related fetal akinesia deformation sequence. GO annotations related to this gene include protein kinase binding and insulin receptor binding.

UniProtKB/Swiss-Prot for DOK7 Gene

  • Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOK7 Gene

Genomics for DOK7 Gene

Genomic Location for DOK7 Gene

Start:
3,463,306 bp from pter
End:
3,501,473 bp from pter
Size:
38,168 bases
Orientation:
Plus strand

Genomic View for DOK7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DOK7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOK7 Gene

Regulatory Elements for DOK7 Gene

Proteins for DOK7 Gene

  • Protein details for DOK7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q18PE1-DOK7_HUMAN
    Recommended name:
    Protein Dok-7
    Protein Accession:
    Q18PE1
    Secondary Accessions:
    • A2A499
    • A2RRD4
    • E9PB56
    • Q6P6A6
    • Q86XG5
    • Q8N2J3
    • Q8NBC1

    Protein attributes for DOK7 Gene

    Size:
    504 amino acids
    Molecular mass:
    53097 Da
    Quaternary structure:
    • Homodimer (By similarity). Forms a heterotetramer composed of 2 DOK7 and 2 MUSK molecules which facilitates MUSK trans-autophosphorylation on tyrosine residue and activation (By similarity). Interacts (via IRS-type PTB domain) with MUSK (via cytoplasmic part); requires MUSK phosphorylation.
    SequenceCaution:
    • Sequence=BAC11367.1; Type=Miscellaneous discrepancy; Note=Contains a poly-A tail in the 5region.; Evidence={ECO:0000305};

    Alternative splice isoforms for DOK7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DOK7 Gene

Proteomics data for DOK7 Gene at MOPED

Post-translational modifications for DOK7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DOK7 Gene

No data available for DME Specific Peptides for DOK7 Gene

Domains for DOK7 Gene

Protein Domains for DOK7 Gene

Suggested Antigen Peptide Sequences for DOK7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q18PE1

UniProtKB/Swiss-Prot:

DOK7_HUMAN
Domain:
  • The PH domain mediated binding to phospholipids with phosphoinositol headgroups. Affinity is highest for phosphatidyl 3,4,5-trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 4,5-bisphosphate (By similarity).:
    • Q18PE1
  • Contains 1 IRS-type PTB domain.:
    • Q18PE1
  • Contains 1 PH domain.:
    • Q18PE1
genes like me logo Genes that share domains with DOK7: view

No data available for Gene Families for DOK7 Gene

Function for DOK7 Gene

Molecular function for DOK7 Gene

UniProtKB/Swiss-Prot Function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.

Gene Ontology (GO) - Molecular Function for DOK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005158 insulin receptor binding IEA --
GO:0005515 protein binding --
GO:0019901 protein kinase binding IDA 20603078
GO:0035091 phosphatidylinositol binding IEA --
genes like me logo Genes that share ontologies with DOK7: view
genes like me logo Genes that share phenotypes with DOK7: view

Animal Models for DOK7 Gene

MGI Knock Outs for DOK7:

miRNA for DOK7 Gene

miRTarBase miRNAs that target DOK7

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for DOK7 Gene

Localization for DOK7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOK7 Gene

Cell membrane; Peripheral membrane protein. Cell junction, synapse. Note=Accumulates at neuromuscular junctions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DOK7 Gene COMPARTMENTS Subcellular localization image for DOK7 gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DOK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0030054 cell junction IEA --
GO:0031594 neuromuscular junction IEA --
genes like me logo Genes that share ontologies with DOK7: view

Pathways for DOK7 Gene

SuperPathways for DOK7 Gene

No Data Available

Interacting Proteins for DOK7 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000344432%0d%0a9606.ENSP00000363571%0d%0a
Selected Interacting proteins: ENSP00000344432 Q18PE1-DOK7_HUMAN for DOK7 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for DOK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation --
GO:0007528 neuromuscular junction development IEA --
GO:0043113 receptor clustering IEA --
GO:0061098 positive regulation of protein tyrosine kinase activity IDA 20603078
genes like me logo Genes that share ontologies with DOK7: view

No data available for Pathways by source for DOK7 Gene

Transcripts for DOK7 Gene

Unigene Clusters for DOK7 Gene

Docking protein 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DOK7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e ^ 9 ^ 10 ^ 11
SP1: - - -
SP2: - - - - -
SP3: -
SP4: -
SP5:
SP6: -

Relevant External Links for DOK7 Gene

GeneLoc Exon Structure for
DOK7
ECgene alternative splicing isoforms for
DOK7

Expression for DOK7 Gene

mRNA expression in normal human tissues for DOK7 Gene

mRNA differential expression in normal tissues according to GTEx for DOK7 Gene

This gene is overexpressed in Heart - Atrial Appendage (10.0), Heart - Left Ventricle (8.8), Muscle - Skeletal (7.6), and Pituitary (4.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for DOK7 Gene

SOURCE GeneReport for Unigene cluster for DOK7 Gene Hs.122110

mRNA Expression by UniProt/SwissProt for DOK7 Gene

Q18PE1-DOK7_HUMAN
Tissue specificity: Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).
genes like me logo Genes that share expressions with DOK7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for DOK7 Gene

Orthologs for DOK7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DOK7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOK7 35
  • 96.72 (n)
  • 95.22 (a)
DOK7 36
  • 74 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DOK7 35
  • 83.7 (n)
  • 83.7 (a)
DOK7 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DOK7 35
  • 86.87 (n)
  • 87.09 (a)
DOK7 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dok7 35
  • 81.17 (n)
  • 84.42 (a)
Dok7 16
Dok7 36
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOK7 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dok7 35
  • 81.86 (n)
  • 84.67 (a)
chicken
(Gallus gallus)
Aves DOK7 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DOK7 36
  • 62 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dok7 36
  • 40 (a)
OneToMany
DOK7 (2 of 2) 36
  • 24 (a)
OneToMany
Dr.16303 35
Species with no ortholog for DOK7:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DOK7 Gene

ENSEMBL:
Gene Tree for DOK7 (if available)
TreeFam:
Gene Tree for DOK7 (if available)

Paralogs for DOK7 Gene

No data available for Paralogs for DOK7 Gene

Variants for DOK7 Gene

Sequence variations from dbSNP and Humsavar for DOK7 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs731450 -- 3,488,601(+) CTGTG(C/T)GCTGC intron-variant
rs736993 -- 3,484,033(+) CACAG(C/T)AGGAC intron-variant, upstream-variant-2KB
rs743715 -- 3,487,449(+) CCGCT(G/T)TGACC intron-variant
rs743716 -- 3,488,033(-) CTCCC(A/G)ACACG intron-variant
rs743717 -- 3,489,412(-) CCCCA(C/G/T)GCCGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DOK7 Gene

Variant ID Type Subtype PubMed ID
nsv878456 CNV Loss 21882294
nsv878462 CNV Loss 21882294
nsv878463 CNV Loss 21882294
nsv428435 CNV Gain 18775914
essv879 CNV CNV 17122850
dgv1566e1 CNV Complex 17122850
nsv878464 CNV Loss 21882294
dgv5429n71 CNV Loss 21882294
dgv5431n71 CNV Loss 21882294
nsv878471 CNV Loss 21882294
dgv5432n71 CNV Loss 21882294
nsv470004 CNV Loss 18288195
nsv516505 CNV Loss 19592680
nsv10424 CNV Gain 18304495
nsv4202 CNV Loss 18451855
nsv829840 CNV Loss 17160897
dgv5433n71 CNV Loss 21882294
nsv4203 CNV Insertion 18451855
nsv508992 CNV Insertion 20534489
dgv5434n71 CNV Loss 21882294
nsv878483 CNV Loss 21882294
nsv10425 CNV Gain 18304495
nsv433362 CNV Gain 18776910
esv27130 CNV Gain 19812545
nsv441855 CNV CNV 18776908
nsv461170 CNV Gain 19166990
essv14004 CNV CNV 17122850
dgv5435n71 CNV Loss 21882294
nsv878485 CNV Loss 21882294
esv2726888 CNV Deletion 23290073
nsv10426 CNV Gain+Loss 18304495
nsv878488 CNV Loss 21882294
dgv5436n71 CNV Loss 21882294
esv2726889 CNV Deletion 23290073
esv2223892 CNV Deletion 18987734
esv2726890 CNV Deletion 23290073
esv2726891 CNV Deletion 23290073
esv2726892 CNV Deletion 23290073
esv1301117 CNV Deletion 17803354
nsv293632 CNV Loss 16902084
nsv461171 CNV Loss 19166990
esv2726893 CNV Deletion 23290073
esv2726894 CNV Deletion 23290073
nsv878491 CNV Loss 21882294
esv2726896 CNV Deletion 23290073
esv2670025 CNV Deletion 23128226
esv2726897 CNV Deletion 23290073
esv2677486 CNV Deletion 23128226
esv2657183 CNV Deletion 23128226
esv25516 CNV Loss 19812545
esv2726898 CNV Deletion 23290073
esv2665392 CNV Deletion 23128226
esv2726899 CNV Deletion 23290073
nsv878492 CNV Loss 21882294
nsv878493 CNV Loss 21882294
dgv21e24 CNV Loss 17666407
nsv878495 CNV Gain 21882294

Relevant External Links for DOK7 Gene

HapMap Linkage Disequilibrium report
DOK7
Human Gene Mutation Database (HGMD)
DOK7
Locus Specific Mutation Databases (LSDB)
DOK7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOK7 Gene

Disorders for DOK7 Gene

(2) OMIM Diseases for DOK7 Gene (610285)

UniProtKB/Swiss-Prot

DOK7_HUMAN
  • Myasthenia, limb-girdle, familial (LGM) [MIM:254300]: A congenital myasthenic syndrome characterized by a typical limb girdle pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function. {ECO:0000269 PubMed:16917026, ECO:0000269 PubMed:17439981, ECO:0000269 PubMed:20012313, ECO:0000269 PubMed:22661499}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for DOK7 Gene

Relevant External Links for DOK7

GeneTests
DOK7
GeneReviews
DOK7
Human Genome Epidemiology (HuGE) Navigator
DOK7
genes like me logo Genes that share disorders with DOK7: view

Publications for DOK7 Gene

  1. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. (PMID: 16794080) Okada K. … Yamanashi Y. (Science 2006) 2 3 4
  2. Dok-7 mutations underlie a neuromuscular junction synaptopathy. (PMID: 16917026) Beeson D. … Yamanashi Y. (Science 2006) 3 4
  3. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. (PMID: 17439981) Muller J.S. … Lochmuller H. (Brain 2007) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for DOK7 Gene

Sources for DOK7 Gene

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