Human Gene DOK6 (uc002lkl.3) Description and Page Index
  Description: Homo sapiens docking protein 6 (DOK6), mRNA.
RefSeq Summary (NM_152721): DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.154678.1, SRR1803612.137908.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000382713.10/ ENSP00000372160.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr18:67,068,284-67,516,322 Size: 448,039 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr18:67,068,481-67,508,619 Size: 440,139 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:67,068,284-67,516,322)mRNA (may differ from genome)Protein (331 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKB

-  Comments and Description Text from UniProtKB
  ID: DOK6_HUMAN
DESCRIPTION: RecName: Full=Docking protein 6; AltName: Full=Downstream of tyrosine kinase 6;
FUNCTION: DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK6 promotes Ret- mediated neurite growth. May have a role in brain development and/or maintenance.
SUBUNIT: Interacts via its PTB domain with phosphorylated RET.
TISSUE SPECIFICITY: Highly expressed in fetal and adult brain. Highly expressed in the cerebellum. Weak expression in kidney, spinal cord and testis.
DOMAIN: PTB domain mediates receptor interaction (By similarity).
PTM: On Ret activation, phosphorylated on one or more C-terminal tyrosine residues by an Src family kinase.
SIMILARITY: Belongs to the DOK family. Type B subfamily.
SIMILARITY: Contains 1 IRS-type PTB domain.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=BAB71577.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DOK6
CDC HuGE Published Literature: DOK6
Positive Disease Associations: Arteries , Cholesterol , Echocardiography , Mental Competency , Osteoporosis , Platelet Count
Related Studies:
  1. Arteries
    , , . [PubMed 0]
  2. Cholesterol
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. Echocardiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.32 RPKM in Brain - Anterior cingulate cortex (BA24)
Total median expression: 31.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -108.60197-0.551 Picture PostScript Text
3' UTR -2047.727703-0.266 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002404 - Insln_rcpt_S1
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF02174 - PTB domain (IRS-1 type)

SCOP Domains:
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on Q6PKX4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007411 axon guidance

Cellular Component:
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AY599248 - Homo sapiens downstream of tyrosine kinase 6 (DOK6) mRNA, complete cds.
BC096744 - Homo sapiens docking protein 6, mRNA (cDNA clone MGC:104528 IMAGE:5260167), complete cds.
AB528935 - Synthetic construct DNA, clone: pF1KE0759, Homo sapiens DOK6 gene for docking protein 6, without stop codon, in Flexi system.
AK057795 - Homo sapiens cDNA FLJ25066 fis, clone CBL05086.
BC019045 - Homo sapiens docking protein 6, mRNA (cDNA clone IMAGE:4635165), partial cds.
BC008583 - Homo sapiens docking protein 6, mRNA (cDNA clone IMAGE:4214491), partial cds.
KJ904020 - Synthetic construct Homo sapiens clone ccsbBroadEn_13414 DOK6 gene, encodes complete protein.
LF211123 - JP 2014500723-A/18626: Polycomb-Associated Non-Coding RNAs.
LF212753 - JP 2014500723-A/20256: Polycomb-Associated Non-Coding RNAs.
LF213431 - JP 2014500723-A/20934: Polycomb-Associated Non-Coding RNAs.
MA446700 - JP 2018138019-A/18626: Polycomb-Associated Non-Coding RNAs.
MA448330 - JP 2018138019-A/20256: Polycomb-Associated Non-Coding RNAs.
MA449008 - JP 2018138019-A/20934: Polycomb-Associated Non-Coding RNAs.
JD433743 - Sequence 414767 from Patent EP1572962.
JD428197 - Sequence 409221 from Patent EP1572962.
JD494270 - Sequence 475294 from Patent EP1572962.
JD427547 - Sequence 408571 from Patent EP1572962.
JD036482 - Sequence 17506 from Patent EP1572962.
JD091741 - Sequence 72765 from Patent EP1572962.
JD219770 - Sequence 200794 from Patent EP1572962.
JD270299 - Sequence 251323 from Patent EP1572962.
JD453876 - Sequence 434900 from Patent EP1572962.
JD349857 - Sequence 330881 from Patent EP1572962.
JD206660 - Sequence 187684 from Patent EP1572962.
AL512695 - Homo sapiens mRNA; cDNA DKFZp547G133 (from clone DKFZp547G133).

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6PKX4 (Reactome details) participates in the following event(s):

R-HSA-8855617 2x p-5Y-RET:GDNF:GFRA complexes binds DOK1,DOK2,DOK4,DOK5,DOK6
R-HSA-8853659 RET signaling
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A6NNG3, DOK5L, DOK6_HUMAN, NM_152721, NP_689934, Q4V9S3, Q6PKX4, Q8WUZ8, Q96HI2, Q96LU2
UCSC ID: uc002lkl.3
RefSeq Accession: NM_152721
Protein: Q6PKX4 (aka DOK6_HUMAN)
CCDS: CCDS32841.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_152721.5
exon count: 8CDS single in 3' UTR: no RNA size: 8897
ORF size: 996CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2147.50frame shift in genome: no % Coverage: 99.99
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.