DOK7 Gene
protein-coding GIFtS: 50
GCID: GC04P003465
|
|
docking protein 7(Previous name: chromosome 4 open reading frame 25 )
(Previous symbol: C4orf25)
| |
Aliases
for DOK7 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Docking Protein 71 2 | | FLJ337181 | | C4orf251 2 3 5 | | FLJ391371 | | Downstream Of Tyrosine Kinase 72 3 | | Chromosome 4 Open Reading Frame 251 | | CMS1B2 5 | | Protein Dok-72 | | Dok-71 | | |
Export aliases for DOK7 gene to outside databasesPrevious GC identifer: GC04P003434 |
Summaries
for DOK7 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DOK7:
The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneuralactivation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in thesubsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation ofmuscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomalrecessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multipletranscript variants. (provided by RefSeq, Sep 2009)
UniProtKB/Swiss-Prot: DOK7_HUMAN, Q18PE1Function: 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. Inducesautophosphorylation of MUSK
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Genomic Views
for DOK7 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000004.11 NC_018915.1 NT_006051.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DOK7 gene promoter:
USF1 AML1a AP-4 Nkx2-5 YY1 E47 CREB USF-1 Zic3 RSRFC4
Other transcription factors
Search SABiosciences Chromatin IP Primers for DOK7
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DOK7 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4p16.3 Ensembl cytogenetic band: 4p16.3 HGNC cytogenetic band: 4p16.2DOK7 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P003465: view genomic region
(about GC identifiers)
Start:
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3,465,033 bp from pter |
End:
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3,503,200 bp from pter |
Size:
|
38,168 bases |
Orientation:
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plus strand |
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Proteins
for DOK7 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DOK7_HUMAN, Q18PE1 (See
protein sequence)Recommended Name: Protein Dok-7 Size: 504 amino acids; 53097 Da
Subunit: Homodimer (By similarity). Forms a heterotetramer composed of 2 DOK7 and 2 MUSK molecules which facilitatesMUSK trans-autophosphorylation on tyrosine residue and activation (By similarity). Interacts (via IRS-type PTB domain)with MUSK (via cytoplasmic part); requires MUSK phosphorylation
Subcellular location: Cell membrane; Peripheral membrane protein (By similarity). Cell junction, synapse (Bysimilarity). Note=Accumulates at neuromuscular junctions (By similarity)
Sequence caution: Sequence=BAC11367.1; Type=Erroneous initiation;
Secondary accessions: A2A499 A2RRD4 Q6P6A6 Q86XG5 Q8N2J3 Q8NBC1Alternative splicing: 3 isoforms: Q18PE1-1 Q18PE1-2 Q18PE1-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for DOK7: NX_Q18PE1
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q18PE1
DOK7 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001158145.1 NP_001243825.1 NP_775931.3
ENSEMBL proteins: ENSP00000423614 ENSP00000344432 ENSP00000374304
Human Recombinant Protein Products for DOK7:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
DOK7 for ontologies About GeneDecksing
DOK7 Antibody Products:
Assay Products for DOK7: |
Protein
Domains /
Families
for DOK7 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DOK7 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q18PE1ProtoNet protein and cluster: Q18PE1 UniProtKB/Swiss-Prot: DOK7_HUMAN, Q18PE1Domain: The PH domain mediated binding to phospholipids with phosphoinositol headgroups. Affinity is highest forphosphatidyl 3,4,5-trisphosphate, followed by phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol4,5-bisphosphate (By similarity)Similarity: Contains 1 IRS-type PTB domainSimilarity: Contains 1 PH domain |
Function
for DOK7 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: DOK7_HUMAN, Q18PE1Function: 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. Inducesautophosphorylation of MUSK Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
DOK7 for ontologies About GeneDecksing
Phenotypes:
4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Dok7):
DOK7 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Dok7tm1Yyam for DOK7
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DOK7 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DOK7 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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Synthesis Service for DOK7 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOK7 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOK7 |
|
Pathways & Interactions
for DOK7 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DOK7
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
3 Interacting proteins for DOK7 (Q18PE13 ENSP000003444324) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | 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 | -- |
DOK7 for ontologies About GeneDecksing
|
Drugs & Compounds
for DOK7 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DOK7
Search CenterWatch for drugs/clinical trials and news about DOK7
|
Transcripts
for DOK7 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DOK7 gene (3 alternative transcripts): NM_001164673.1 NM_001256896.1 NM_173660.4 Unigene Clusters for DOK7: Docking protein 7 Hs.122110 [show with all ESTs], Hs.701584 [show with all ESTs]Unigene Representative Sequences: NM_173660, AK0750378 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000511267 ENST00000503688 ENST00000507039(uc003ghe.3) ENST00000340083(uc003ghd.3)
ENST00000515886(uc003ghf.3) ENST00000513995 ENST00000512714(uc003ghg.1)
ENST00000389653
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DOK7 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DOK7 (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Synthesis Service for DOK7 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOK7 |
Additional cDNA sequence: AK075037.1 4 DOTS entries: DT.95117736 DT.40125001 DT.97819298 DT.121251361 22 AceView cDNA sequences: AX746744 NM_173660 AK091037 AK096456 BC043568 CD513121 BG680641 BQ787121 BU857646 BC062369 BM929763 AK075037 AA779697 BQ786851 AW189555 AI743416 AW474640 BF308079 AI376727 AI689331 BM726730 BI910181
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DOK7 (see all 6) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e | ^ | 9 | ^ | 10 | ^ | 11 |
|---|
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| SP1: | | | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | - | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for DOK7
|
Expression
for DOK7 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DOK7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCGCTCCTG
About this image
See DOK7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DOK7
SOURCE GeneReport for Unigene clusters: Hs.122110 Hs.701584
UniProtKB/Swiss-Prot: DOK7_HUMAN, Q18PE1Tissue specificity: Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heartbut not in the liver or spleen (at protein level)
SABiosciences Custom PCR Arrays for DOK7
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DOK7
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DOK7 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOK7 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOK7 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOK7 |
Orthologs
for DOK7 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for DOK7 gene from 5/11 species (see all 11) About this table
ENSEMBL Gene Tree for DOK7 (if available)
TreeFam Gene Tree for DOK7 (if available) |
Paralogs
for DOK7 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for DOK7 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 4 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DOK7 (3465033 - 3503200 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 14 variations for DOK7
13 CNVs: 37806 31153 30195 63726 31154 30196 51384 4371 31155 3477 2494 68629 37548
1 Indel: 46635
Human Gene Mutation Database (HGMD): DOK7
Locus Specific Mutation Databases (LSDB): DOK7
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DOK7 |
|
Disorders
/ Diseases
for DOK7 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DOK7 for disorders About GeneDecksing
OMIM gene information: 610285
OMIM disorders: 254300 208150
UniProtKB/Swiss-Prot: DOK7_HUMAN, Q18PE1
Defects in DOK7 are a cause of myasthenia, limb-girdle, familial (LGM) [MIM:254300]. A congenital myasthenicsyndrome characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscularjunctions but normal acetylcholine receptor and acetylcholinesterase function
7  diseases for DOK7: About MalaCardscongenital myasthenic syndrome myasthenic syndrome myasthenia, limb-girdle, familial fetal akinesia deformation sequence
myasthenia myasthenia gravis myopathy
2 diseases from the University of Copenhagen DISEASES database for DOK7:Neuropathy Myopathy GeneTests: DOK7
Congenital Myasthenic Syndromes
Human Genome Epidemiology (HuGE) Navigator: DOK7 (1 document)
Export disorders for DOK7 gene to outside databases
|
Publications
for DOK7 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for DOK7 gene, integrated from 9 sources (see all 37):
(articles sorted by number of sources associating them with DOK7) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. (PubMed id 16794080)1, 2, 3 Okada K.... Yamanashi Y. (2006)
- The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. (PubMed id 22661499)1, 2 Cossins J.... Beeson D. (2012)
- The cytoplasmic adaptor protein Dok7 activates the re ceptor tyrosine kinase MuSK via dimerization. (PubMed id 20603078)1, 2 Bergamin E....Hubbard S.R. (2010)
- Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. (PubMed id 20012313)1, 2 Ben Ammar A....Eymard B. (2010)
- Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. (PubMed id 17439981)1, 2 Muller J.S....Lochmuller H. (2007)
- Dok-7 mutations underlie a neuromuscular junction synaptopathy. (PubMed id 16917026)1, 2 Beeson D.... Yamanashi Y. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- DOK7 congenital myasthenic syndrome. (PubMed id 23278577)1 Palace J. (2012)
- Congenital myasthenic syndrome: a brief review. (PubMed id 22353287)1 Lorenzoni P.J....Werneck L.C. (2012)
|
External Searches for DOK7 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DOK7 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DOK7 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DOK7 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for DOK7 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DOK7 gene:
Search GeneIP for patents involving DOK7
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DOK7 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOK7 |
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