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Aliases for DOK7 Gene

Aliases for DOK7 Gene

  • Docking Protein 7 2 3 5
  • Downstream Of Tyrosine Kinase 7 3 4
  • C4orf25 3 4
  • Chromosome 4 Open Reading Frame 25 2
  • Protein Dok-7 3
  • CMS10 3
  • CMS1B 3

External Ids for DOK7 Gene

Previous HGNC Symbols for DOK7 Gene

  • C4orf25

Previous GeneCards Identifiers for DOK7 Gene

  • GC04P003434

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 Myasthenic Syndrome, Congenital, 10 and Fetal Akinesia Deformation Sequence. Gene Ontology (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.

Additional gene information for DOK7 Gene

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

Genomics for DOK7 Gene

GeneHancer (GH) Regulatory Elements for DOK7 Gene

Promoters and enhancers for DOK7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J003460 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 684.8 -0.6 -595 4.1 PKNOX1 NFIB ZFP64 ARID4B NEUROD1 SIN3A RFX5 RCOR1 HCFC1 RXRA DOK7 GC04P003463 ENSG00000261643 ZBTB49 HTT LOC105374354
GH04J003480 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 658.4 +20.7 20658 7.7 HDGF CLOCK ARID4B NEUROD1 SIN3A ZBTB7B GLIS2 ELK1 ZNF143 REST DOK7 LRPAP1 MFSD10 ZBTB49 ENSG00000261643 LINC00955 FAM193A NOP14 HTT-AS MSANTD1
GH04J003465 Enhancer 0.2 dbSUPER 650.7 +2.0 2000 0.6 GC04P003463 DOK7 LOC105374355
GH04J003466 Enhancer 0.5 dbSUPER 19.5 +3.2 3157 1.7 CTCF XRCC5 ESRRA RFX1 EGR1 ZNF143 RAD21 DOK7 GC04P003463 LOC105374355
GH04J003073 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.6 -388.1 -388132 3.5 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 YY1 POLR2B HTT HTT-AS GC04P003074 RNF4 FAM193A HAUS3 MSANTD1 DOK7 NOP14-AS1 GC04M003078
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DOK7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DOK7 gene promoter:
  • Nkx2-5
  • Zic3
  • E47
  • AP-4
  • AML1a
  • USF-1
  • RSRFC4
  • USF1
  • YY1
  • CREB

Genomic Locations for DOK7 Gene

Genomic Locations for DOK7 Gene
38,171 bases
Plus strand
38,168 bases
Plus strand

Genomic View for DOK7 Gene

Genes around DOK7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOK7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOK7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOK7 Gene

Proteins for DOK7 Gene

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

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

    Protein attributes for DOK7 Gene

    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.
    • Sequence=BAC11367.1; Type=Miscellaneous discrepancy; Note=Contains a poly-A tail in the 5region.; Evidence={ECO:0000305};

    Alternative splice isoforms for DOK7 Gene


neXtProt entry for DOK7 Gene

Post-translational modifications for DOK7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DOK7 Gene

Domains & Families for DOK7 Gene

Gene Families for DOK7 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

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



  • 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).
  • 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).
genes like me logo Genes that share domains with DOK7: view

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.

Phenotypes From GWAS Catalog for DOK7 Gene

Gene Ontology (GO) - Molecular Function for DOK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
GO:0019901 protein kinase binding IDA,IEA 20603078
genes like me logo Genes that share ontologies with DOK7: view
genes like me logo Genes that share phenotypes with DOK7: view

Human Phenotype Ontology for DOK7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DOK7 Gene

MGI Knock Outs for DOK7:
  • Dok7 Dok7<tm1Yyam>
  • Dok7 Dok7<tm2Yyam>
  • Dok7 Dok7<tm1.1(KOMP)Vlcg>

Animal Model Products

miRNA for DOK7 Gene

miRTarBase miRNAs that target DOK7

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DOK7 gene
Compartment Confidence
plasma membrane 4
nucleus 3
mitochondrion 2
cytosol 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DOK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DOK7: view

Pathways & Interactions for DOK7 Gene

No Data Available

SIGNOR curated interactions for DOK7 Gene


Gene Ontology (GO) - Biological Process for DOK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061098 positive regulation of protein tyrosine kinase activity IDA,IEA 20603078
genes like me logo Genes that share ontologies with DOK7: view

No data available for Pathways by source for DOK7 Gene

Drugs & Compounds for DOK7 Gene

No Compound Related Data Available

Transcripts for DOK7 Gene

mRNA/cDNA for DOK7 Gene

Unigene Clusters for DOK7 Gene

Docking protein 7:
Representative Sequences:

Clone Products

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: -
SP6: -

Relevant External Links for DOK7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DOK7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DOK7 Gene

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

This gene is overexpressed in Heart - Atrial Appendage (x10.0), Heart - Left Ventricle (x8.8), Muscle - Skeletal (x7.6), and Pituitary (x4.2).

Protein differential expression in normal tissues from HIPED for DOK7 Gene

This gene is overexpressed in Serum (44.0) and Urine (24.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DOK7 Gene

Protein tissue co-expression partners for DOK7 Gene

NURSA nuclear receptor signaling pathways regulating expression of DOK7 Gene:


SOURCE GeneReport for Unigene cluster for DOK7 Gene:


mRNA Expression by UniProt/SwissProt for DOK7 Gene:

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).

Evidence on tissue expression from TISSUES for DOK7 Gene

  • Lung(5)
  • Nervous system(4.8)
  • Blood(4.2)
  • Liver(3.3)
  • Muscle(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DOK7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
  • sternum
  • kidney
  • stomach
  • pelvis
  • placenta
  • testicle
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • hair
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns 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
(Pan troglodytes)
Mammalia DOK7 34 33
  • 96.72 (n)
(Canis familiaris)
Mammalia DOK7 34 33
  • 86.87 (n)
(Bos Taurus)
Mammalia DOK7 34 33
  • 83.7 (n)
(Rattus norvegicus)
Mammalia Dok7 33
  • 81.86 (n)
(Mus musculus)
Mammalia Dok7 16 34 33
  • 81.17 (n)
(Monodelphis domestica)
Mammalia DOK7 34
  • 69 (a)
(Gallus gallus)
Aves DOK7 34
  • 67 (a)
(Anolis carolinensis)
Reptilia DOK7 34
  • 62 (a)
(Danio rerio)
Actinopterygii dok7 34
  • 40 (a)
DOK7 (2 of 2) 34
  • 24 (a)
Dr.16303 33
Species where no ortholog for DOK7 was found in the sources mined by GeneCards:
  • 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

Gene Tree for DOK7 (if available)
Gene Tree for DOK7 (if available)
Evolutionary constrained regions (ECRs) for DOK7: view image

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 Variation AA Info Type
rs118203994 pathogenic, Myasthenia, limb-girdle, familial, Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300] 3,485,545(+) G/A/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, stop_gained
rs118203995 pathogenic, Myasthenia, limb-girdle, familial 3,485,607(+) C/G/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, stop_gained
rs138148221 likely-benign, benign, not specified, Myasthenia, limb-girdle, familial, Pena-Shokeir syndrome type I 3,492,907(+) C/T 3_prime_UTR_variant, 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs139468087 uncertain-significance, benign, not specified, Myasthenia, limb-girdle, familial, Pena-Shokeir syndrome type I 3,493,264(+) C/A/G/T 3_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs142821143 uncertain-significance, benign, Myasthenia, limb-girdle, familial, Pena-Shokeir syndrome type I, not specified 3,492,767(+) C/G/T 3_prime_UTR_variant, 5_prime_UTR_variant, coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv21e24 CNV loss 17666407
dgv2919e59 CNV duplication 20981092
dgv972e214 CNV gain 21293372
esv1301117 CNV deletion 17803354
esv2223892 CNV deletion 18987734
esv25516 CNV loss 19812545
esv2657183 CNV deletion 23128226
esv2665392 CNV deletion 23128226
esv2670025 CNV deletion 23128226
esv2677486 CNV deletion 23128226
esv27130 CNV gain 19812545
esv2726888 CNV deletion 23290073
esv2726889 CNV deletion 23290073
esv2726890 CNV deletion 23290073
esv2726891 CNV deletion 23290073
esv2726892 CNV deletion 23290073
esv2726893 CNV deletion 23290073
esv2726894 CNV deletion 23290073
esv2726896 CNV deletion 23290073
esv2726897 CNV deletion 23290073
esv2726898 CNV deletion 23290073
esv2726899 CNV deletion 23290073
esv2759219 CNV gain 17122850
esv3563273 CNV deletion 23714750
esv3599433 CNV loss 21293372
nsv1008575 CNV gain 25217958
nsv10424 CNV gain 18304495
nsv10425 CNV gain 18304495
nsv10426 CNV gain+loss 18304495
nsv1128024 CNV deletion 24896259
nsv1135930 CNV deletion 24896259
nsv1136377 CNV deletion 24896259
nsv1161028 CNV duplication 26073780
nsv1161029 CNV duplication 26073780
nsv293632 CNV deletion 16902084
nsv4202 CNV deletion 18451855
nsv4203 CNV insertion 18451855
nsv428435 CNV gain 18775914
nsv433362 CNV gain 18776910
nsv441855 CNV gain 18776908
nsv461170 CNV gain 19166990
nsv461171 CNV loss 19166990
nsv470004 CNV loss 18288195
nsv508992 CNV insertion 20534489
nsv516505 CNV loss 19592680
nsv593458 CNV gain 21841781
nsv593459 CNV loss 21841781
nsv822443 CNV gain 20364138
nsv829840 CNV loss 17160897
nsv829841 CNV loss 17160897
nsv949766 CNV deletion 24416366
nsv998670 CNV gain 25217958

Variation tolerance for DOK7 Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.55; 88.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DOK7 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for DOK7 Gene

MalaCards: The human disease database

(14) MalaCards diseases for DOK7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DOK7 in MalaCards View complete list of genes associated with diseases


  • Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS10 is an autosomal recessive, post-synaptic form 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:20603078, ECO:0000269 PubMed:22661499}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DOK7

genes like me logo Genes that share disorders with DOK7: view

No data available for Genatlas for DOK7 Gene

Publications for DOK7 Gene

  1. The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. (PMID: 16794080) Okada K … Yamanashi Y (Science (New York, N.Y.) 2006) 2 3 4 58
  2. The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. (PMID: 22661499) Cossins J … Beeson D (Human molecular genetics 2012) 3 4 58
  3. The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization. (PMID: 20603078) Bergamin E … Hubbard SR (Molecular cell 2010) 3 4 58
  4. Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. (PMID: 20012313) Ben Ammar A … Eymard B (Journal of neurology 2010) 3 4 58
  5. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. (PMID: 17439981) Müller JS … Lochmüller H (Brain : a journal of neurology 2007) 3 4 58

Products for DOK7 Gene

Sources for DOK7 Gene

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