Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1795
Gene name	Dedicator of cytokinesis 3
Gene symbol	DOCK3
Synonyms (NCBI Gene)	MOCANEDIDHAPBP
Chromosome	3
Chromosome location	3p21.2
Summary	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 mo

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs142515812	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs1553749681	C>T	Pathogenic, likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1560212751	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1560414254	ACTT>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045048	hsa-miR-186-5p	CLASH	23622248
MIRT437588	hsa-miR-125a-5p	MicroarrayqRT-PCR	22815788
MIRT437744	hsa-miR-34a-5p	MicroarrayqRT-PCR	22815788
MIRT438814	hsa-miR-486-5p	ImmunofluorescenceImmunohistochemistryImmunoprecipitaionLuciferase reporter assayqRT-PCRWestern blot	24789910
MIRT438814	hsa-miR-486-5p	ImmunofluorescenceImmunohistochemistryImmunoprecipitaionLuciferase reporter assayqRT-PCRWestern blot	24789910
MIRT942820	hsa-miR-1238	CLIP-seq
MIRT942821	hsa-miR-143	CLIP-seq
MIRT942822	hsa-miR-154	CLIP-seq
MIRT942823	hsa-miR-19a	CLIP-seq
MIRT942824	hsa-miR-19b	CLIP-seq
MIRT942825	hsa-miR-2113	CLIP-seq
MIRT942826	hsa-miR-23a	CLIP-seq
MIRT942827	hsa-miR-23b	CLIP-seq
MIRT942828	hsa-miR-23c	CLIP-seq
MIRT942829	hsa-miR-28-5p	CLIP-seq
MIRT942830	hsa-miR-3064-3p	CLIP-seq
MIRT942831	hsa-miR-3124-3p	CLIP-seq
MIRT942832	hsa-miR-3139	CLIP-seq
MIRT942833	hsa-miR-3160-3p	CLIP-seq
MIRT942834	hsa-miR-3170	CLIP-seq
MIRT942835	hsa-miR-320e	CLIP-seq
MIRT942836	hsa-miR-337-5p	CLIP-seq
MIRT942837	hsa-miR-3614-5p	CLIP-seq
MIRT942838	hsa-miR-3689a-3p	CLIP-seq
MIRT942839	hsa-miR-3689c	CLIP-seq
MIRT942840	hsa-miR-4274	CLIP-seq
MIRT942841	hsa-miR-4433	CLIP-seq
MIRT942842	hsa-miR-4459	CLIP-seq
MIRT942843	hsa-miR-4509	CLIP-seq
MIRT942844	hsa-miR-4701-5p	CLIP-seq
MIRT942845	hsa-miR-4722-3p	CLIP-seq
MIRT942846	hsa-miR-4731-5p	CLIP-seq
MIRT942847	hsa-miR-4744	CLIP-seq
MIRT942848	hsa-miR-4760-3p	CLIP-seq
MIRT942849	hsa-miR-4763-5p	CLIP-seq
MIRT942850	hsa-miR-4768-3p	CLIP-seq
MIRT942851	hsa-miR-4770	CLIP-seq
MIRT942852	hsa-miR-499-3p	CLIP-seq
MIRT942853	hsa-miR-499a-3p	CLIP-seq
MIRT942854	hsa-miR-548u	CLIP-seq
MIRT942855	hsa-miR-566	CLIP-seq
MIRT942856	hsa-miR-588	CLIP-seq
MIRT942857	hsa-miR-600	CLIP-seq
MIRT942858	hsa-miR-663b	CLIP-seq
MIRT942859	hsa-miR-708	CLIP-seq
MIRT1548009	hsa-miR-4254	CLIP-seq
MIRT1979180	hsa-miR-1299	CLIP-seq
MIRT1979181	hsa-miR-1972	CLIP-seq
MIRT1979182	hsa-miR-298	CLIP-seq
MIRT1979183	hsa-miR-3125	CLIP-seq
MIRT1979184	hsa-miR-3140-3p	CLIP-seq
MIRT1979185	hsa-miR-3916	CLIP-seq
MIRT1979186	hsa-miR-3928	CLIP-seq
MIRT1979187	hsa-miR-4438	CLIP-seq
MIRT1979188	hsa-miR-4530	CLIP-seq
MIRT1979189	hsa-miR-4782-5p	CLIP-seq
MIRT1979190	hsa-miR-5095	CLIP-seq
MIRT1979191	hsa-miR-516b	CLIP-seq
MIRT1979192	hsa-miR-922	CLIP-seq
MIRT2214274	hsa-miR-1179	CLIP-seq
MIRT2214275	hsa-miR-4310	CLIP-seq
MIRT2214276	hsa-miR-4475	CLIP-seq
MIRT2214277	hsa-miR-4672	CLIP-seq
MIRT2214278	hsa-miR-4757-5p	CLIP-seq
MIRT942834	hsa-miR-3170	CLIP-seq
MIRT942835	hsa-miR-320e	CLIP-seq
MIRT942846	hsa-miR-4731-5p	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	17474147, 32203420, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0017124	Function	SH3 domain binding	IEA
GO:0031267	Function	Small GTPase binding	IBA
GO:0048011	Process	Neurotrophin TRK receptor signaling pathway	TAS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

MIM	HGNC	e!Ensembl
603123	2989	ENSG00000088538

Q8IZD9

Protein name

Dedicator of cytokinesis protein 3 (Modifier of cell adhesion) (Presenilin-binding protein) (PBP)

Protein 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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07653	SH3_2	10 → 64	Variant SH3 domain	Domain
PF16172	DOCK_N	69 → 412	DOCK N-terminus	Family
PF14429	DOCK-C2	417 → 608	C2 domain in Dock180 and Zizimin proteins	Domain
PF06920	DHR-2	1121 → 1628	Dock homology region 2	Family

Tissue specificity

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. {ECO:0000269|PubMed:11696419}.

Sequence

MWTPTEEEKYGVVICSFRGSVPQGLVLEIGETVQILEKCEGWYRGVSTKKPNVKGIFPAN
YIHLKKAIVSNRGQYETVVPLEDSIVTEVTATLQEWASLWKQLYVKHKVDLFYKLRHVMN
ELIDLRRQLLSGHLTQDQVREVKRHITVRLDWGNEHLGLDLVPRKDFEVVDSDQISVSDL
YKMHLSSRQSVQQSTSQVDTMRPRHGETCRMPVPHHFFLSLKSFTYNTIGEDTDVFFSLY
DMREGKQISERFLVRLNKNGGPRNPEKIERMCALFTDLSSKDMKRDLYIVAHVIRIGRML
LNDSKKGPPHLHYRRPYGCAVLSILDVLQSLTEVKEEKDFVLKVYTCNNESEWSQIHENI
IRKSSAKYSAPSASHGLIISLQLLRGDMEQIRRENPMIFNRGLAITRKLGFPDVIMPGDI
RNDLYLTLEKGDFERGGKSVQKNIEVTMYVLYADGEILKDCISLGSGEPNRSSYHSFVLY
HSNSPRWGEIIKLPIPIDRFRGSHLRFEFRHCSTKDKGEKKLFGFAFSTLMRDDGTTLSD
DIHELYVYKCDENSTFNNHALYLGLPCCKEDYNGCPNIPSSLIFQRSTKESFFISTQLSS
TKLTQNVDLLALLKWKAFPDRIMDVLGRLRHVSGEEIVKFLQDILDTLFVILDDNTEKYG
LLVFQSLVFIINLLRDIKYFHFRPVMDTYIQKHFAGALAYKELIRCLKWYMDCSAELIRQ
DHIQEAMRALEYLFKFIVQSRILYSRATCGMEEEQFRSSIQELFQSIRFVLSLDSRNSET
LLFTQAALLNSFPTIFDELLQMFTVQEVAEFVRGTLGSMPSTVHIGQSMDVVKLQSIART
VDSRLFSFSESRRILLPVVLHHIHLHLRQQKELLICSGILGSIFSIVKTSSLEADVMEEV
EMMVESLLDVLLQTLLTIMSKSHAQEAVRGQRCPQCTAEITGEYVSCLLSLLRQMCDTHF
QHLLDNFQSKDELKEFLLKIFCVFRNLMKMSVFPRDWMVMRLLTSNIIVTTVQYLSSALH
KNFTETDFDFKVWNSYFSLAVLFINQPSLQLEIITSAKRKKILDKYGDMRVMMAYELFSM
WQNLGEHKIHFIPGMIGPFLGVTLVPQPEVRNIMIPIFHDMMDWEQRKNGNFKQVEAELI
DKLDSMVSEGKGDESYRELFSLLTQLFGPYPSLLEKVEQETWRETGISFVTSVTRLMERL
LDYRDCMKGEETENKKIGCTVNLMNFYKSEINKEEMYIRYIHKLCDMHLQAENYTEAAFT
LLLYCELLQWEDRPLREFLHYPSQTEWQRKEGLCRKIIHYFNKGKSWEFGIPLCRELACQ
YESLYDYQSLSWIRKMEASYYDNIMEQQRLEPEFFRVGFYGRKFPFFLRNKEYVCRGHDY
ERLEAFQQRMLSEFPQAVAMQHPNHPDDAILQCDAQYLQIYAVTPIPDYVDVLQMDRVPD
RVKSFYRVNNVRKFRYDRPFHKGPKDKENEFKSLWIERTTLTLTHSLPGISRWFEVERRE
LVEVSPLENAIQVVENKNQELRSLISQYQHKQVHGNINLLSMCLNGVIDAAVNGGIARYQ
EAFFDKDYINKHPGDAEKITQLKELMQEQVHVLGVGLAVHEKFVHPEMRPLHKKLIDQFQ
MMRASLYHEFPGLDKLSPACSGTSTPRGNVLASHSPMSPESIKMTHRHSPMNLMGTGRHS
SSSLSSHASSEAGNMVMLGDGSMGDAPEDLYHHMQLAYPNPRYQGSVTNVSVLSSSQASP
SSSSLSSTHSAPSQMITSAPSSARGSPSLPDKYRHAREMMLLLPTYRDRPSSAMYPAAIL
ENGQPPNFQRALFQQVVGACKPCSDPNLSVAEKGHYSLHFDAFHHPLGDTPPALPARTLR
KSPLHPIPASPTSPQSGLDGSNSTLSGSASSGVSSLSESNFGHSSEAPPRTDTMDSMPSQ
AWNADEDLEPPYLPVHYSLSESAVLDSIKAQPCRSHSAPGCVIPQDPMDPPALPPKPYHP
RLPALEHDEGVLLREETERPRGLHRKAPLPPGSAKEEQARMAWEHGRGEQ

Sequence length

2030

Interactions

View interactions

	Reactome
			NTRK2 activates RAC1 Factors involved in megakaryocyte development and platelet production

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DOCK3-related disorder	Likely pathogenic	rs2549285187, rs1378797018, rs2548199661	RCV003427887 RCV003421194 RCV003397245
Global developmental delay	Likely pathogenic; Pathogenic	rs1560212751, rs1560414254	RCV001841880 RCV001841879
Hypotonia	Likely pathogenic; Pathogenic	rs1560212751, rs1560414254	RCV001841880 RCV001841879
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	Pathogenic; Likely pathogenic	rs1553749681, rs1560212751, rs1560414254	RCV000754620 RCV001253771 RCV001253772

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs1400590317	RCV004560241
Malignant lymphoma, large B-cell, diffuse	Benign	rs371514131	RCV005933198

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	11696419
Ataxia	Associate	29130632, 30976111
Colorectal Neoplasms	Associate	37214090
Developmental Disabilities	Associate	29130632, 30976111
Diffuse Neurofibrillary Tangles with Calcification	Associate	11696419
Gait Ataxia	Associate	30976111
Gait Disorders Neurologic	Associate	29130632
Intellectual Disability	Associate	29130632, 30976111
Melanoma	Associate	18977323, 18984162
Multiple Sclerosis	Associate	28892075
Muscle Hypotonia	Associate	29130632, 30976111
Neoplasm Metastasis	Associate	18977323
Neoplasms	Associate	28892075

DOCK3 (dedicator of cytokinesis 3)