Human Gene DOCK3 (ENST00000266037.10) from GENCODE V44
  Description: Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. (from RefSeq NM_004947)
RefSeq Summary (NM_004947): This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010].
Gencode Transcript: ENST00000266037.10
Gencode Gene: ENSG00000088538.13
Transcript (Including UTRs)
   Position: hg38 chr3:50,674,927-51,384,198 Size: 709,272 Total Exon Count: 53 Strand: +
Coding Region
   Position: hg38 chr3:50,675,264-51,381,559 Size: 706,296 Coding Exon Count: 53 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:50,674,927-51,384,198)mRNA (may differ from genome)Protein (2030 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DOCK3_HUMAN
DESCRIPTION: RecName: Full=Dedicator of cytokinesis protein 3; AltName: Full=Modifier of cell adhesion; AltName: Full=Presenilin-binding protein; Short=PBP;
FUNCTION: Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells decreases the secretion of beta-amyloid APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell adhesion receptors (By similarity).
SUBUNIT: Interacts with presenilin proteins PSEN1 and PSEN2. Interacts with CRK (By similarity).
INTERACTION: P16333:NCK1; NbExp=3; IntAct=EBI-1752361, EBI-389883;
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
TISSUE SPECIFICITY: In normal brains, it is localized in the neuropil, and occasionally in the pyramidal cells, while in Alzheimer disease brains, it is associated with neurofibrillary tangles.
DOMAIN: The DHR-2 domain may mediate some GEF activity (By similarity).
DISEASE: Note=A chromosomal aberration involving DOCK3 has been found in a family with early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability. Inversion inv(3)(p14:q21). The inversion disrupts DOCK3 and SLC9A9.
SIMILARITY: Belongs to the DOCK family.
SIMILARITY: Contains 1 DHR-1 domain.
SIMILARITY: Contains 1 DHR-2 domain.
SIMILARITY: Contains 1 SH3 domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DOCK3
Diseases sorted by gene-association score: attention deficit-hyperactivity disorder (12), alzheimer disease (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.30 RPKM in Brain - Cerebellum
Total median expression: 221.92 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -212.40337-0.630 Picture PostScript Text
3' UTR -895.302639-0.339 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
IPR026791 - DOCK
IPR026800 - DOCK_B
IPR010703 - DOCK_C
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF06920 - Dock homology region 2
PF07653 - Variant SH3 domain

ModBase Predicted Comparative 3D Structure on Q8IZD9
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-  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
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsemblEnsembl SGD
Protein SequenceProtein SequenceProtein SequenceProtein Sequence Protein Sequence
AlignmentAlignmentAlignmentAlignment Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0017124 SH3 domain binding
GO:0030676 Rac guanyl-nucleotide exchange factor activity

Biological Process:
GO:0007264 small GTPase mediated signal transduction
GO:1903997 positive regulation of non-membrane spanning protein tyrosine kinase activity

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AY254099 - Homo sapiens DOCK3 (DOCK3) mRNA, complete cds.
BC156339 - Synthetic construct Homo sapiens clone IMAGE:100061861, MGC:190116 dedicator of cytokinesis 3 (DOCK3) mRNA, encodes complete protein.
BC157127 - Synthetic construct Homo sapiens clone IMAGE:100063529, MGC:190792 dedicator of cytokinesis 3 (DOCK3) mRNA, encodes complete protein.
AY145303 - Homo sapiens modifier of cell adhesion mRNA, complete cds.
AB002297 - Homo sapiens mRNA for KIAA0299 gene, partial cds.
HZ409594 - JP 2015528002-A/2191: CHIRAL CONTROL.
HZ461131 - WO 2015190584-A/628: Kit or device and method for detecting prostate cancer.
HZ462131 - WO 2015190591-A/286: Kit and method for detecting breast cancer.
LG052928 - KR 1020150036642-A/2194: CHIRAL CONTROL.
LY499134 - KR 1020170018412-A/286: BREAST CANCER DETECTION KIT OR DEVICE, AND METHOD FOR DETECTING BREAST CANCER.
LY501004 - KR 1020170016490-A/628: PROSTATE CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD.
LZ238315 - WO 2017171039-A/15: Kit or device and method for detecting malignant brain cancer.
LZ238713 - WO 2017171048-A/374: Kit, device and method for detecting early pancreatic cancer or precancerous lesion of pancreas.
MS869923 - Sequence 628 from Patent EP3156483.
MS880449 - Sequence 286 from Patent EP3156498.
LZ238326 - WO 2017171039-A/26: Kit or device and method for detecting malignant brain cancer.
LZ238984 - WO 2017171048-A/645: Kit, device and method for detecting early pancreatic cancer or precancerous lesion of pancreas.
FR773109 - Homo sapiens microRNA hsa-miR-4787-5p.
HW798965 - WO 2014192907-A/71: Method for detecting miRNA used for differentiating disorders causing motor neuropathy.
HZ461099 - WO 2015190584-A/596: Kit or device and method for detecting prostate cancer.
HZ461862 - WO 2015190591-A/17: Kit and method for detecting breast cancer.
HZ481985 - JP 2015535430-A/2491: TERMINALLY MODIFIED RNA.
HZ791916 - JP 2016504050-A/3661: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC514648 - Sequence 4901 from Patent WO2014113089.
LF161312 - JP 2016513950-A/1378: Oligomers with improved off-target profile.
LF632666 - WO 2016117582-A/95: miRNA biomarkers for mental disorders.
LP951690 - Sequence 196 from Patent WO2017157650.
LQ072236 - Sequence 2560 from Patent EP2964234.
LQ724800 - Sequence 433 from Patent WO2018096084.
LY498865 - KR 1020170018412-A/17: BREAST CANCER DETECTION KIT OR DEVICE, AND METHOD FOR DETECTING BREAST CANCER.
LY500972 - KR 1020170016490-A/596: PROSTATE CANCER DETECTION KIT OR DEVICE, AND DETECTION METHOD.
LZ238304 - WO 2017171039-A/4: Kit or device and method for detecting malignant brain cancer.
LZ238456 - WO 2017171048-A/117: Kit, device and method for detecting early pancreatic cancer or precancerous lesion of pancreas.
MA406168 - WO 2018155427-A/942: A probe with reduced false positive binding, a method to desing the probe, and the use thereof.
MA645737 - JP 2017113010-A/3661: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA733621 - JP 2017140048-A/2491: TERMINALLY MODIFIED RNA.
MP015361 - Sequence 564 from Patent WO2019016252.
MS869891 - Sequence 596 from Patent EP3156483.
MS880180 - Sequence 17 from Patent EP3156498.
FR773108 - Homo sapiens microRNA hsa-miR-4787-3p.
HW799073 - WO 2014192907-A/179: Method for detecting miRNA used for differentiating disorders causing motor neuropathy.
HZ083176 - JP 2015513906-A/533: Stem Cell Microparticles.
HZ436957 - JP 2015529450-A/533: Stem Cell Microparticles.
HZ481984 - JP 2015535430-A/2490: TERMINALLY MODIFIED RNA.
HZ791915 - JP 2016504050-A/3660: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC172161 - Sequence 533 from Patent WO2013150303.
JC514647 - Sequence 4900 from Patent WO2014113089.
JC572972 - Sequence 533 from Patent WO2014125276.
JC582660 - Sequence 533 from Patent WO2014125277.
JE954356 - Sequence 533 from Patent WO2015052526.
JE956109 - Sequence 533 from Patent WO2015052527.
LF137861 - JP 2016507550-A/533: Method of Producing Microparticles.
LF161876 - JP 2016513950-A/1942: Oligomers with improved off-target profile.
LF162826 - JP 2016513095-A/533: Stem Cell Microparticles and miRNA.
LF953578 - JP 2016534103-A/533: Stem Cell Microparticles and miRNA.
LG005923 - KR 1020150004822-A/533: STEM CELL MICROPARTICLES.
LG053619 - KR 1020150059168-A/533: STEM CELL MICROPARTICLES.
LG240858 - KR 1020160035087-A/533: STEM CELL MICROPARTICLES AND MIRNA.
LQ072235 - Sequence 2559 from Patent EP2964234.
LQ724771 - Sequence 404 from Patent WO2018096084.
LV470943 - JP 2016534036-A/533: Stem Cell Microparticles and miRNA.
MA406105 - WO 2018155427-A/879: A probe with reduced false positive binding, a method to desing the probe, and the use thereof.
MA645736 - JP 2017113010-A/3660: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA733620 - JP 2017140048-A/2490: TERMINALLY MODIFIED RNA.
MP101637 - Sequence 15 from Patent EP3438266.
MP101648 - Sequence 26 from Patent EP3438266.
MP101626 - Sequence 4 from Patent EP3438266.
MA806058 - WO 2018199275-A/318: Kit, device and method for detection of ovary tumor.
MA806416 - WO 2018199275-A/676: Kit, device and method for detection of ovary tumor.
MA802790 - JP 2018183181-A/3661: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA805863 - WO 2018199275-A/123: Kit, device and method for detection of ovary tumor.
MA802789 - JP 2018183181-A/3660: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA805781 - WO 2018199275-A/41: Kit, device and method for detection of ovary tumor.
MA806324 - WO 2018199275-A/584: Kit, device and method for detection of ovary tumor.
MA822603 - WO 2019004436-A/416: Kit, device, and method for detection of lung cancer.
MP168088 - Sequence 95 from Patent EP3469101.
MA822267 - WO 2019004436-A/80: Kit, device, and method for detection of lung cancer.
MP129633 - Sequence 533 from Patent EP3470073.
MP162556 - Sequence 533 from Patent WO2019069093.
MB021460 - JP 2019050772-A/31: A test method for predicting side reactions after vaccination.
LY616477 - KR 1020180129785-A/374: KIT OR DEVICE FOR DETECTING EARLY STAGE PANCREATIC CANCER OR PANCREATIC CANCER PRECURSOR LESIONS AND DETECTION METHOD THEREFOR.
LY627877 - KR 1020180132748-A/15: KIT OR DEVICE FOR DETECTING MALIGNANT BRAIN TUMOR AND METHOD FOR DETECTING SAME.
LY616748 - KR 1020180129785-A/645: KIT OR DEVICE FOR DETECTING EARLY STAGE PANCREATIC CANCER OR PANCREATIC CANCER PRECURSOR LESIONS AND DETECTION METHOD THEREFOR.
LY627888 - KR 1020180132748-A/26: KIT OR DEVICE FOR DETECTING MALIGNANT BRAIN TUMOR AND METHOD FOR DETECTING SAME.
LY616220 - KR 1020180129785-A/117: KIT OR DEVICE FOR DETECTING EARLY STAGE PANCREATIC CANCER OR PANCREATIC CANCER PRECURSOR LESIONS AND DETECTION METHOD THEREFOR.
LY627866 - KR 1020180132748-A/4: KIT OR DEVICE FOR DETECTING MALIGNANT BRAIN TUMOR AND METHOD FOR DETECTING SAME.
MB472973 - WO 2019208671-A/372: Kit or device and method for detecting bladder cancer.
MB472739 - WO 2019208671-A/138: Kit or device and method for detecting bladder cancer.
MB481515 - JP 2019528758-A/95: Methods And Compositions For Prostate Cancer Diagnosis And Treatment.
BC131746 - Homo sapiens dedicator of cytokinesis 3, mRNA (cDNA clone IMAGE:40117527), partial cds.
JD263920 - Sequence 244944 from Patent EP1572962.
JD316207 - Sequence 297231 from Patent EP1572962.
JD067685 - Sequence 48709 from Patent EP1572962.
JD365452 - Sequence 346476 from Patent EP1572962.
JD320922 - Sequence 301946 from Patent EP1572962.
JD082758 - Sequence 63782 from Patent EP1572962.
JD451805 - Sequence 432829 from Patent EP1572962.
JD495033 - Sequence 476057 from Patent EP1572962.
JD068532 - Sequence 49556 from Patent EP1572962.
JD187788 - Sequence 168812 from Patent EP1572962.
JD535618 - Sequence 516642 from Patent EP1572962.
JD388538 - Sequence 369562 from Patent EP1572962.
JD373626 - Sequence 354650 from Patent EP1572962.
JD111448 - Sequence 92472 from Patent EP1572962.
JD260827 - Sequence 241851 from Patent EP1572962.
JD354236 - Sequence 335260 from Patent EP1572962.
JD126178 - Sequence 107202 from Patent EP1572962.
JD297444 - Sequence 278468 from Patent EP1572962.
JD184736 - Sequence 165760 from Patent EP1572962.
JD375672 - Sequence 356696 from Patent EP1572962.
JD525844 - Sequence 506868 from Patent EP1572962.
JD525116 - Sequence 506140 from Patent EP1572962.
JD460190 - Sequence 441214 from Patent EP1572962.
JD383128 - Sequence 364152 from Patent EP1572962.
JD313721 - Sequence 294745 from Patent EP1572962.
JD264944 - Sequence 245968 from Patent EP1572962.
JD334398 - Sequence 315422 from Patent EP1572962.
JD101194 - Sequence 82218 from Patent EP1572962.
JD493931 - Sequence 474955 from Patent EP1572962.
JD334480 - Sequence 315504 from Patent EP1572962.
JD143088 - Sequence 124112 from Patent EP1572962.
JD178210 - Sequence 159234 from Patent EP1572962.
JD215782 - Sequence 196806 from Patent EP1572962.
JD345101 - Sequence 326125 from Patent EP1572962.
JD067335 - Sequence 48359 from Patent EP1572962.
AK310984 - Homo sapiens cDNA, FLJ18026.
JD289779 - Sequence 270803 from Patent EP1572962.
JD298008 - Sequence 279032 from Patent EP1572962.
JD167175 - Sequence 148199 from Patent EP1572962.
JD316234 - Sequence 297258 from Patent EP1572962.
JD156396 - Sequence 137420 from Patent EP1572962.
JD205746 - Sequence 186770 from Patent EP1572962.
JD132385 - Sequence 113409 from Patent EP1572962.
JD292888 - Sequence 273912 from Patent EP1572962.
BC037933 - Homo sapiens cDNA clone IMAGE:5285280.
JD305343 - Sequence 286367 from Patent EP1572962.
JD515102 - Sequence 496126 from Patent EP1572962.
JD145045 - Sequence 126069 from Patent EP1572962.
JD240796 - Sequence 221820 from Patent EP1572962.
JD148956 - Sequence 129980 from Patent EP1572962.
JD219147 - Sequence 200171 from Patent EP1572962.
JD478194 - Sequence 459218 from Patent EP1572962.
JD304946 - Sequence 285970 from Patent EP1572962.
JD359348 - Sequence 340372 from Patent EP1572962.
BC045793 - Homo sapiens cDNA clone IMAGE:4798256.
JD213639 - Sequence 194663 from Patent EP1572962.
JD231714 - Sequence 212738 from Patent EP1572962.
JD248597 - Sequence 229621 from Patent EP1572962.
JD376642 - Sequence 357666 from Patent EP1572962.
JD525313 - Sequence 506337 from Patent EP1572962.
JD466022 - Sequence 447046 from Patent EP1572962.
JD219359 - Sequence 200383 from Patent EP1572962.
JD525237 - Sequence 506261 from Patent EP1572962.
JD159511 - Sequence 140535 from Patent EP1572962.
JD541708 - Sequence 522732 from Patent EP1572962.
JD566703 - Sequence 547727 from Patent EP1572962.
JD562734 - Sequence 543758 from Patent EP1572962.
JD313116 - Sequence 294140 from Patent EP1572962.
JD247338 - Sequence 228362 from Patent EP1572962.
JD518436 - Sequence 499460 from Patent EP1572962.
JD245933 - Sequence 226957 from Patent EP1572962.
JD378821 - Sequence 359845 from Patent EP1572962.
JD564824 - Sequence 545848 from Patent EP1572962.
JD375116 - Sequence 356140 from Patent EP1572962.
JD263432 - Sequence 244456 from Patent EP1572962.
JD087371 - Sequence 68395 from Patent EP1572962.
JD355896 - Sequence 336920 from Patent EP1572962.
JD311022 - Sequence 292046 from Patent EP1572962.

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

Protein Q8IZD9 (Reactome details) participates in the following event(s):

R-HSA-1011598 DOCKs bind to RhoGEFs
R-HSA-9032759 NTRK2 activates RAC1
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-9032500 Activated NTRK2 signals through FYN
R-HSA-109582 Hemostasis
R-HSA-9006115 Signaling by NTRK2 (TRKB)
R-HSA-166520 Signaling by NTRKs
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: DOCK3_HUMAN, ENST00000266037.1, ENST00000266037.2, ENST00000266037.3, ENST00000266037.4, ENST00000266037.5, ENST00000266037.6, ENST00000266037.7, ENST00000266037.8, ENST00000266037.9, KIAA0299, MOCA, NM_004947, O15017, Q8IZD9, uc011bds.1, uc011bds.2, uc011bds.3
UCSC ID: ENST00000266037.10
RefSeq Accession: NM_004947
Protein: Q8IZD9 (aka DOCK3_HUMAN or DOC3_HUMAN)
CCDS: CCDS46835.1

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