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DOK7 docking protein 7 [ Homo sapiens (human) ]

Gene ID: 285489, updated on 22-Jan-2023

Summary

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Official Symbol
DOK7provided by HGNC
Official Full Name
docking protein 7provided by HGNC
Primary source
HGNC:HGNC:26594
See related
Ensembl:ENSG00000175920 MIM:610285; AllianceGenome:HGNC:26594
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMS10; CMS1B; FADS3; C4orf25
Summary
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]
Expression
Biased expression in heart (RPKM 3.1), testis (RPKM 1.0) and 9 other tissues See more
Orthologs
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Genomic context

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See DOK7 in Genome Data Viewer
Location:
4p16.3
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (3463306..3501482)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (3463090..3501240)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (3465033..3503209)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene regulator of G protein signaling 12 Neighboring gene ribosomal protein L7a pseudogene 29 Neighboring gene HGF activator Neighboring gene vegetative cell wall protein gp1-like Neighboring gene LDL receptor related protein associated protein 1 Neighboring gene uncharacterized LOC124900650

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation. Oh SJ, et al. J Clin Neuromuscul Dis, 2022 Dec 1. PMID 36409338
  2. DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer. Gowdini E, et al. J Hum Genet, 2023 Jan. PMID 36372800
  3. Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness. Lorenzoni PJ, et al. J Clin Neurosci, 2020 May. PMID 32238315
  4. Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations. Bissay V, et al. J Clin Neuromuscul Dis, 2019 Sep. PMID 31453852
  5. DOK7V1 influences the malignant phenotype of lung cancer cells through PI3K/AKT/mTOR and FAK/paxillin signaling pathways. Zhao H, et al. Int J Oncol, 2019 Jan. PMID 30431081

See all (57) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer.
    Title: DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer.
  2. Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
    Title: Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.
  3. Hsa_Circ_0001947/MiR-661/DOK7 Axis Restrains Non-Small Cell Lung Cancer Development.
    Title: Hsa_Circ_0001947/MiR-661/DOK7 Axis Restrains Non-Small Cell Lung Cancer Development.
  4. Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.
    Title: Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with 'unexplained' limb-girdle muscular weakness.
  5. 2 unrelated adult patients who presented with a limb-girdle congenital myasthenic syndrome, caused by 2 compound heterozygous pathogenic sequence variants in DOK7: c.1124_1127dupTGCC (P.Ala378Serfs*30) and c.480C> A (p.Tyr160*)
    Title: Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations.
  6. this study shows hypermethylation of DOK7 gene in DNA from patients affected with breast cancer
    Title: Examination of methylation changes of <i>VIM</i>, <i>CXCR4</i>, <i>DOK7</i>, and <i>SPDEF</i> genes in peripheral blood DNA in breast cancer patients.
  7. Data showed that DOK7 transcript variants 1 (DOK7V1) were decreased in lung cancer, and associated with poor overall survival and progressionfree survival. Its overexpression limited the proliferation and migration, but enhanced the adhesion to the extracellular matrix, of lung cancer cells. Further data indicate that DOK7V1 may inhibit proliferation and migration via negatively regulating the PI3K/AKT/mTOR signaling.
    Title: DOK7V1 influences the malignant phenotype of lung cancer cells through PI3K/AKT/mTOR and FAK/paxillin signaling pathways.
  8. Data identified MuSK activator Dok-7 as a another ROR1-binding protein independently of MuSK interaction.
    Title: Interaction between ROR1 and MuSK activation complex in myogenic cells.
  9. Repression of Dok7 expression via DNMT1 mediated DNA methylation promotes glioma cell proliferation.
    Title: Repression of Dok7 expression mediated by DNMT1 promotes glioma cells proliferation.
  10. Silencing DNMT3A inhibits proliferation and invasion in ESCC cells by inducing demethylation of DOK7.
    Title: Repression of DOK7 mediated by DNMT3A promotes the proliferation and invasion of KYSE410 and TE-12 ESCC cells.
Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Congenital myasthenic syndrome 10
MedGen: C1850792 OMIM: 254300 GeneReviews: Congenital Myasthenic Syndromes Overview
Compare labs
Fetal akinesia deformation sequence 3
MedGen: C4760599 OMIM: 618389 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ33718, FLJ39137, FLJ90556

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipid binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables protein kinase binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in neuromuscular junction development IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in positive regulation of protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in positive regulation of protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein Dok-7
Names
downstream of tyrosine kinase 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013072.2 RefSeqGene

    Range
    5001..36177
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_869

mRNA and Protein(s)

  1. NM_001164673.2 → NP_001158145.1  protein Dok-7 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence and uses an alternate splice site in the central coding region compared to variant 4, that causes a frameshift. The encoded isoform (2) differs in the central region and has a shorter and distinct C-terminus compared to isoform 4.
    Source sequence(s)
    AK091037, BM684814, DA205628
    Consensus CDS
    CCDS54717.1
    UniProtKB/Swiss-Prot
    Q18PE1
    Related
    ENSP00000423614.1, ENST00000507039.5
    Conserved Domains (3) summary
    cd14677
    Location:6 → 107
    PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7
    pfam00169
    Location:8 → 108
    PH; PH domain
    cl17171
    Location:108 → 174
    PH-like; Pleckstrin homology-like domain

  2. NM_001256896.2 → NP_001243825.1  protein Dok-7 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate internal promoter and differs in the 3' UTR and coding sequence compared to variant 4. The encoded isoform (3) is significantly shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 4.
    Source sequence(s)
    AK091037, AK096456, BM684814, DA823926
    Consensus CDS
    CCDS87206.1
    UniProtKB/Swiss-Prot
    Q18PE1
    UniProtKB/TrEMBL
    A0A1W2PRA3, Q8N1M3
    Related
    ENSP00000492194.1, ENST00000515886.5

  3. NM_001301071.2 → NP_001288000.1  protein Dok-7 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (4).
    Source sequence(s)
    AK075037, AL590235, BC141852, DA205628
    UniProtKB/Swiss-Prot
    Q18PE1
    Conserved Domains (2) summary
    cd13165
    Location:108 → 208
    PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
    cd14677
    Location:6 → 107
    PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7

  4. NM_001363811.2 → NP_001350740.1  protein Dok-7 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate exons compared to variant 4. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 4.
    Source sequence(s)
    AL590235
    Consensus CDS
    CCDS87205.1
    UniProtKB/TrEMBL
    A0A2R8Y701
    Related
    ENSP00000495701.1, ENST00000643608.1
    Conserved Domains (1) summary
    cl17171
    Location:6 → 33
    PH-like; Pleckstrin homology-like domain

  5. NM_173660.5 → NP_775931.3  protein Dok-7 isoform 1

    See identical proteins and their annotated locations for NP_775931.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 3' UTR and coding sequence compared to variant 4. The resulting isoform (1) has a shorter and distinct C-terminus compared to isoform 4.
    Source sequence(s)
    AK091037, BC141852, BM684814, DA205628
    Consensus CDS
    CCDS3370.2
    UniProtKB/Swiss-Prot
    Q18PE1, Q8NBC1
    Related
    ENSP00000344432.5, ENST00000340083.6
    Conserved Domains (2) summary
    cd13165
    Location:108 → 208
    PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
    cd14677
    Location:6 → 107
    PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    3463306..3501482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513435.3 → XP_011511737.1  protein Dok-7 isoform X1

    Conserved Domains (2) summary
    cd13165
    Location:108 → 208
    PTB_DOK7; Downstream of tyrosine kinase 7 phosphotyrosine-binding domain (PTBi)
    cd14677
    Location:6 → 107
    PH_DOK7; Pleckstrin homology (PH) domain of Downstream of tyrosine kinase 7

  2. XM_047450078.1 → XP_047306034.1  protein Dok-7 isoform X2

  3. XM_047450079.1 → XP_047306035.1  protein Dok-7 isoform X3

  4. XM_047450080.1 → XP_047306036.1  protein Dok-7 isoform X4

  5. XM_047450081.1 → XP_047306037.1  protein Dok-7 isoform X5

    UniProtKB/TrEMBL
    A0A1W2PRA3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    3463090..3501240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q18PE1.1 GenPept UniProtKB/Swiss-Prot:Q18PE1

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