The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This prote... See more...

Aliases for DOK5 Gene

Aliases for DOK5 Gene

  • Docking Protein 5 2 3 4 5
  • Downstream Of Tyrosine Kinase 5 3 4
  • Insulin Receptor Substrate 6 3 4
  • C20orf180 3 4
  • IRS-6 3 4
  • IRS6 3 4
  • Chromosome 20 Open Reading Frame 180 2

External Ids for DOK5 Gene

Previous HGNC Symbols for DOK5 Gene

  • C20orf180

Previous GeneCards Identifiers for DOK5 Gene

  • GC20P052780
  • GC20P053730
  • GC20P053777
  • GC20P052525
  • GC20P053092
  • GC20P049839

Summaries for DOK5 Gene

Entrez Gene Summary for DOK5 Gene

  • The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneCards Summary for DOK5 Gene

DOK5 (Docking Protein 5) is a Protein Coding gene. Diseases associated with DOK5 include Malignant Pheochromocytoma. Among its related pathways are Signaling events regulated by Ret tyrosine kinase and Developmental Biology. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity, downstream of receptor and insulin receptor binding. An important paralog of this gene is DOK6.

UniProtKB/Swiss-Prot Summary for DOK5 Gene

  • DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK5 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway. Putative link with downstream effectors of RET in neuronal differentiation.

Gene Wiki entry for DOK5 Gene

Additional gene information for DOK5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DOK5 Gene

Genomics for DOK5 Gene

GeneHancer (GH) Regulatory Elements for DOK5 Gene

Promoters and enhancers for DOK5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J054475 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.9 860 2.9 USF1 ZBTB26 SMC3 ZBTB17 YY1 PHF8 ZFHX2 TAF15 EGR1 SIN3A DOK5 HSALNG0131002 HSALNG0131003
GH20J054207 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 6.1 -267.3 -267271 2.8 EP300 FOXK2 CTCF SIN3A POLR2G SP1 NCOR1 BCLAF1 NONO PHF8 PFDN4 DOK5 ENSG00000286229
GH20J054622 Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 10.6 +148.6 148629 4.2 POLR2A SMARCA4 ETV6 EZH2 DOK5 HSALNG0131003 HSALNG0131002
GH20J054254 Enhancer 0.8 Ensembl ENCODE 9.6 -219.2 -219241 3.3 EP300 JUND FOS ZFX SMARCC1 CEBPB CHD2 JUN RCOR1 STAT3 DOK5 piR-56759-353 ENSG00000286229 piR-35674-313 lnc-CYP24A1-1
GH20J054559 Enhancer 0.6 Ensembl ENCODE 11 +83.6 83629 3.4 MBD2 FOS GATA2 ETV6 MYC CTCF DOK5 HSALNG0131003 HSALNG0131002
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DOK5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DOK5

Top Transcription factor binding sites by QIAGEN in the DOK5 gene promoter:
  • Arnt

Genomic Locations for DOK5 Gene

Genomic Locations for DOK5 Gene
chr20:54,475,472-54,651,171
(GRCh38/hg38)
Size:
175,700 bases
Orientation:
Plus strand
chr20:53,092,136-53,267,710
(GRCh37/hg19)
Size:
175,575 bases
Orientation:
Plus strand

Genomic View for DOK5 Gene

Genes around DOK5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOK5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOK5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOK5 Gene

Proteins for DOK5 Gene

  • Protein details for DOK5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P104-DOK5_HUMAN
    Recommended name:
    Docking protein 5
    Protein Accession:
    Q9P104
    Secondary Accessions:
    • Q5T7Y0
    • Q5TE53
    • Q8TEW7
    • Q96H13
    • Q9BZ24
    • Q9NQF4
    • Q9Y411

    Protein attributes for DOK5 Gene

    Size:
    306 amino acids
    Molecular mass:
    35464 Da
    Quaternary structure:
    • Interacts with phosphorylated RET. In contrast to other DOK proteins, it does not interact with RASGAP (By similarity).

    Three dimensional structures from OCA and Proteopedia for DOK5 Gene

    Alternative splice isoforms for DOK5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DOK5 Gene

Post-translational modifications for DOK5 Gene

  • Phosphorylated on tyrosine residues in response to insulin, IGF1 and GDNF.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DOK5 Gene

No data available for DME Specific Peptides for DOK5 Gene

Domains & Families for DOK5 Gene

Gene Families for DOK5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DOK5 Gene

Blocks:
  • Pleckstrin-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DOK5 Gene

GenScript: Design optimal peptide antigens:
  • Insulin receptor substrate 6 (DOK5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P104

UniProtKB/Swiss-Prot:

DOK5_HUMAN :
  • PTB domain mediates receptor interaction.
  • Belongs to the DOK family. Type B subfamily.
Domain:
  • PTB domain mediates receptor interaction.
Family:
  • Belongs to the DOK family. Type B subfamily.
genes like me logo Genes that share domains with DOK5: view

Function for DOK5 Gene

Molecular function for DOK5 Gene

UniProtKB/Swiss-Prot Function:
DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK5 functions in RET-mediated neurite outgrowth and plays a positive role in activation of the MAP kinase pathway. Putative link with downstream effectors of RET in neuronal differentiation.

Phenotypes From GWAS Catalog for DOK5 Gene

genes like me logo Genes that share phenotypes with DOK5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DOK5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DOK5 Gene

Localization for DOK5 Gene

Subcellular locations from

COMPARTMENTS
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 DOK5 gene
Compartment Confidence
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DOK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DOK5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DOK5 Gene

Pathways & Interactions for DOK5 Gene

genes like me logo Genes that share pathways with DOK5: view

Pathways by source for DOK5 Gene

SIGNOR curated interactions for DOK5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DOK5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA --
GO:0007411 axon guidance TAS --
GO:0030182 neuron differentiation IEA --
GO:0043410 positive regulation of MAPK cascade IEA --
GO:0051386 regulation of neurotrophin TRK receptor signaling pathway IMP 23954828
genes like me logo Genes that share ontologies with DOK5: view

Drugs & Compounds for DOK5 Gene

(10) Drugs for DOK5 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3570
Cytarabine Approved, Experimental, Investigational Pharma 1324
Daunorubicin Approved Pharma DNA topoisomerase II inhibitor 365
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist Anti-inflammatory glucocorticoid 2756
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2036
genes like me logo Genes that share compounds with DOK5: view

Transcripts for DOK5 Gene

mRNA/cDNA for DOK5 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DOK5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOK5 Gene

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

Relevant External Links for DOK5 Gene

GeneLoc Exon Structure for
DOK5

Expression for DOK5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DOK5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DOK5 Gene

This gene is overexpressed in Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for DOK5 Gene

This gene is overexpressed in Urinary Bladder (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DOK5 Gene



Protein tissue co-expression partners for DOK5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DOK5

SOURCE GeneReport for Unigene cluster for DOK5 Gene:

Hs.656582

mRNA Expression by UniProt/SwissProt for DOK5 Gene:

Q9P104-DOK5_HUMAN
Tissue specificity: Highest expression in skeletal muscle, lower in brain, heart and kidney. Also detected in activated peripheral blood T-lymphocytes.

Evidence on tissue expression from TISSUES for DOK5 Gene

  • Nervous system(4.8)
  • Muscle(4.2)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with DOK5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DOK5 Gene

Orthologs for DOK5 Gene

This gene was present in the common ancestor of animals.

Orthologs for DOK5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOK5 31 30
  • 99.56 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOK5 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DOK5 31 30
  • 92.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DOK5 31 30
  • 90.74 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dok5 30
  • 90.52 (n)
mouse
(Mus musculus)
Mammalia Dok5 17 31 30
  • 89.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DOK5 31
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves DOK5 31 30
  • 84.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DOK5 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dok5 30
  • 77.45 (n)
zebrafish
(Danio rerio)
Actinopterygii BX323022.1 31
  • 12 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Dok 31
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4936 31
  • 16 (a)
OneToMany
Species where no ortholog for DOK5 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DOK5 Gene

ENSEMBL:
Gene Tree for DOK5 (if available)
TreeFam:
Gene Tree for DOK5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DOK5: view image

Paralogs for DOK5 Gene

Paralogs for DOK5 Gene

(2) SIMAP similar genes for DOK5 Gene using alignment to 1 proteins:

  • DOK5_HUMAN
genes like me logo Genes that share paralogs with DOK5: view

Variants for DOK5 Gene

Additional dbSNP identifiers (rs#s) for DOK5 Gene

Structural Variations from Database of Genomic Variants (DGV) for DOK5 Gene

Variant ID Type Subtype PubMed ID
dgv2264n106 CNV tandem duplication 24896259
dgv67n68 CNV gain 17160897
esv2441780 CNV deletion 19546169
esv2566495 CNV deletion 19546169
esv2760673 CNV loss 21179565
esv3646138 CNV loss 21293372
esv3646139 CNV loss 21293372
esv3646140 CNV loss 21293372
esv997407 CNV insertion 20482838
nsv1060552 CNV gain 25217958
nsv1067497 CNV gain 25217958
nsv1136553 CNV deletion 24896259
nsv586224 CNV gain 21841781
nsv586282 CNV loss 21841781

Variation tolerance for DOK5 Gene

Residual Variation Intolerance Score: 62.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DOK5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOK5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DOK5 Gene

Disorders for DOK5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DOK5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
malignant pheochromocytoma
  • pheochromocytoma, malignant
- elite association - COSMIC cancer census association via MalaCards
Search DOK5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DOK5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DOK5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DOK5 Gene

Publications for DOK5 Gene

  1. DOK4 and DOK5: new Dok-related genes expressed in human T cells. (PMID: 12595900) Favre C … Nunès JA (Genes and immunity 2003) 3 4 23 54
  2. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 41 54
  3. A genome-wide association study of amygdala activation in youths with and without bipolar disorder. (PMID: 20215924) Liu X … McMahon FJ (Journal of the American Academy of Child and Adolescent Psychiatry 2010) 3 41 54
  4. Evaluation of DOK5 as a susceptibility gene for type 2 diabetes and obesity in North Indian population. (PMID: 20187968) Tabassum R … Bharadwaj D (BMC medical genetics 2010) 3 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for DOK5 Gene

Sources for DOK5 Gene