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	1794
Gene name	Dedicator of cytokinesis 2
Gene symbol	DOCK2
Synonyms (NCBI Gene)	IMD40
Chromosome	5
Chromosome location	5q35.1
Summary	The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs149411090	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs762909359	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs1561585424	G>A	Likely-pathogenic	Splice donor variant
rs1561898523	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1581049599	A>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1581090174	G>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1581531492	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant

Show/Hide all (10)

miRTarBase ID	miRNA	Experiments
MIRT2214272	hsa-miR-1263	CLIP-seq
MIRT2214273	hsa-miR-3200-3p	CLIP-seq
MIRT2387062	hsa-miR-150	CLIP-seq
MIRT2387063	hsa-miR-3156-3p	CLIP-seq
MIRT2387064	hsa-miR-3921	CLIP-seq
MIRT2387065	hsa-miR-4301	CLIP-seq
MIRT2387066	hsa-miR-4639-3p	CLIP-seq
MIRT2387067	hsa-miR-4653-5p	CLIP-seq
MIRT2387068	hsa-miR-4713-5p	CLIP-seq
MIRT2387069	hsa-miR-532-3p	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001766	Process	Membrane raft polarization	IEA
GO:0001768	Process	Establishment of T cell polarity	IEA
GO:0001771	Process	Immunological synapse formation	IEA
GO:0002277	Process	Myeloid dendritic cell activation involved in immune response	IEA
GO:0002277	Process	Myeloid dendritic cell activation involved in immune response	ISS
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	10559471
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	12134158, 15723800, 25416956, 32296183, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0006935	Process	Chemotaxis	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007520	Process	Myoblast fusion	IBA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	TAS	12176041
GO:0031267	Function	Small GTPase binding	IBA
GO:0035580	Component	Specific granule lumen	TAS
GO:0042098	Process	T cell proliferation	IEA
GO:0042110	Process	T cell activation	IEA
GO:0042608	Function	T cell receptor binding	IDA	12176041
GO:0044351	Process	Macropinocytosis	IEA
GO:0044351	Process	Macropinocytosis	ISS
GO:0045059	Process	Positive thymic T cell selection	IEA
GO:0045060	Process	Negative thymic T cell selection	IEA
GO:0046631	Process	Alpha-beta T cell activation	IEA
GO:0046633	Process	Alpha-beta T cell proliferation	IEA
GO:0050766	Process	Positive regulation of phagocytosis	IEA
GO:0050766	Process	Positive regulation of phagocytosis	ISS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0070062	Component	Extracellular exosome	HDA	20458337

MIM	HGNC	e!Ensembl
603122	2988	ENSG00000134516

Q92608

Protein name

Dedicator of cytokinesis protein 2

Protein function

Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines. Activates RAC1 and RAC2, but not CDC42, by functioning as a guanine nucleotide exchange factor (GEF), which exchanges bound GDP for free GTP. Ma

PDB

2RQR , 2YIN , 3A98 , 3B13 , 6TGB , 6TGC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07653	SH3_2	12 → 66	Variant SH3 domain	Domain
PF16172	DOCK_N	71 → 414	DOCK N-terminus	Family
PF14429	DOCK-C2	419 → 616	C2 domain in Dock180 and Zizimin proteins	Domain
PF06920	DHR-2	1116 → 1615	Dock homology region 2	Family

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in hematopoietic cells. Highly expressed in peripheral blood leukocytes, and expressed at intermediate level in thymus and spleen. Expressed at very low level in the small intestine and colon. {ECO:0000269|PubMed

Sequence

MAPWRKADKERHGVAIYNFQGSGAPQLSLQIGDVVRIQETCGDWYRGYLIKHKMLQGIFP
KSFIHIKEVTVEKRRNTENIIPAEIPLAQEVTTTLWEWGSIWKQLYVASKKERFLQVQSM
MYDLMEWRSQLLSGTLPKDELKELKQKVTSKIDYGNKILELDLIVRDEDGNILDPDNTSV
ISLFHAHEEATDKITERIKEEMSKDQPDYAMYSRISSSPTHSLYVFVRNFVCRIGEDAEL
FMSLYDPNKQTVISENYLVRWGSRGFPKEIEMLNNLKVVFTDLGNKDLNRDKIYLICQIV
RVGKMDLKDTGAKKCTQGLRRPFGVAVMDITDIIKGKAESDEEKQHFIPFHPVTAENDFL
HSLLGKVIASKGDSGGQGLWVTMKMLVGDIIQIRKDYPHLVDRTTVVARKLGFPEIIMPG
DVRNDIYITLLQGDFDKYNKTTQRNVEVIMCVCAEDGKTLPNAICVGAGDKPMNEYRSVV
YYQVKQPRWMETVKVAVPIEDMQRIHLRFMFRHRSSLESKDKGEKNFAMSYVKLMKEDGT
TLHDGFHDLVVLKGDSKKMEDASAYLTLPSYRHHVENKGATLSRSSSSVGGLSVSSRDVF
SISTLVCSTKLTQNVGLLGLLKWRMKPQLLQENLEKLKIVDGEEVVKFLQDTLDALFNIM
MEHSQSDEYDILVFDALIYIIGLIADRKFQHFNTVLEAYIQQHFSATLAYKKLMTVLKTY
LDTSSRGEQCEPILRTLKALEYVFKFIVRSRTLFSQLYEGKEQMEFEESMRRLFESINNL
MKSQYKTTILLQVAALKYIPSVLHDVEMVFDAKLLSQLLYEFYTCIPPVKLQKQKVQSMN
EIVQSNLFKKQECRDILLPVITKELKELLEQKDDMQHQVLERKYCVELLNSILEVLSYQD
AAFTYHHIQEIMVQLLRTVNRTVITMGRDHILISHFVACMTAILNQMGDQHYSFYIETFQ
TSSELVDFLMETFIMFKDLIGKNVYPGDWMAMSMVQNRVFLRAINKFAETMNQKFLEHTN
FEFQLWNNYFHLAVAFITQDSLQLEQFSHAKYNKILNKYGDMRRLIGFSIRDMWYKLGQN
KICFIPGMVGPILEMTLIPEAELRKATIPIFFDMMLCEYQRSGDFKKFENEIILKLDHEV
EGGRGDEQYMQLLESILMECAAEHPTIAKSVENFVNLVKGLLEKLLDYRGVMTDESKDNR
MSCTVNLLNFYKDNNREEMYIRYLYKLRDLHLDCDNYTEAAYTLLLHTWLLKWSDEQCAS
QVMQTGQQHPQTHRQLKETLYETIIGYFDKGKMWEEAISLCKELAEQYEMEIFDYELLSQ
NLIQQAKFYESIMKILRPKPDYFAVGYYGQGFPSFLRNKVFIYRGKEYERREDFQMQLMT
QFPNAEKMNTTSAPGDDVKNAPGQYIQCFTVQPVLDEHPRFKNKPVPDQIINFYKSNYVQ
RFHYSRPVRRGTVDPENEFASMWIERTSFVTAYKLPGILRWFEVVHMSQTTISPLENAIE
TMSTANEKILMMINQYQSDETLPINPLSMLLNGIVDPAVMGGFAKYEKAFFTEEYVRDHP
EDQDKLTHLKDLIAWQIPFLGAGIKIHEKRVSDNLRPFHDRMEECFKNLKMKVEKEYGVR
EMPDFDDRRVGRPRSMLRSYRQMSIISLASMNSDCSTPSKPTSESFDLELASPKTPRVEQ
EEPISPGSTLPEVKLRRSKKRTKRSSVVFADEKAAAESDLKRLSRKHEFMSDTNLSEHAA
IPLKASVLSQMSFASQSMPTIPALALSVAGIPGLDEANTSPRLSQTFLQLSDGDKKTLTR
KKVNQFFKTMLASKSAEEGKQIPDSLSTDL

Sequence length

1830

Interactions

View interactions

	KEGG		Reactome
	Chemokine signaling pathway		Nef and signal transduction Neutrophil degranulation Factors involved in megakaryocyte development and platelet production

987

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic	rs1429834722	RCV005926777
DOCK2 deficiency	Likely pathogenic; Pathogenic	rs1757824003, rs2113355272, rs2113291833, rs1761023588, rs2113874830, rs142830212, rs2113279864, rs1035797449, rs2532626798, rs2113843664, rs762909359, rs780318765, rs1581090174, rs2113559002, rs2532467695 View all (10 more)	RCV001329974 RCV001375630 RCV001388658 RCV001382558 RCV001382895 RCV001383943 RCV001941940 RCV001994115 RCV003083703 RCV000180780 RCV000180781 RCV000180782 RCV000180783 RCV000180784 RCV002828651 RCV003019098 RCV003340886 RCV003754266 RCV003754393 RCV003754452 RCV003988956 RCV000685405 RCV000701898 RCV000797236 RCV001036774 RCV001050161

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Associated with severe COVID-19 disease	Uncertain significance	rs60200309	RCV003397211
Colorectal cancer	Benign	rs13155521	RCV005897197
DOCK2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs570358398, rs147336443, rs760775098, rs756927816, rs762157854, rs34864600, rs146746458, rs114888195, rs34133853, rs141501849, rs145873210, rs146886839, rs151191554, rs35395501, rs200128185 View all (8 more)	RCV003973290 RCV003896026 RCV003974263 RCV003929545 RCV003942220 RCV003925726 RCV003935548 RCV003962609 RCV003962610 RCV003965410 RCV003928137 RCV003411550 RCV003980275 RCV003411549 RCV003905779 RCV003980276 RCV003396443 RCV003413757 RCV004746181 RCV003918573 RCV003396548 RCV003960778 RCV003938572
Hepatocellular carcinoma	Benign	rs13155521	RCV005897194
Lung cancer	Uncertain significance	rs765316029	RCV005925432
Malignant lymphoma, large B-cell, diffuse	Benign	rs12656761, rs13155521	RCV005927805 RCV005897196
Pancreatic adenocarcinoma	Conflicting classifications of pathogenicity	rs112062072	RCV005900374
Prostate cancer	Uncertain significance	rs864622013	RCV000204327
Sarcoma	Benign	rs13155521	RCV005897198
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs749326729, rs199862297, rs375363462	RCV002252683 RCV002252217 RCV002252244
Thymoma	Benign	rs13155521	RCV005897200
Uterine carcinosarcoma	Benign	rs13155521	RCV005897199
Uveal melanoma	Benign	rs13155521	RCV005897195

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Multiple	Associate	36947335
Adenocarcinoma	Associate	23525077
Asthma	Associate	36883952
Brain Neoplasms	Associate	32867782
Breast Neoplasms	Associate	32867782
Carcinoma Hepatocellular	Associate	36965814
Carcinoma Non Small Cell Lung	Inhibit	34783629
Colorectal Neoplasms	Associate	24951259, 40001597
Coronary Stenosis	Stimulate	32327445
Dental Fissures	Associate	34126038
Diabetes Mellitus	Stimulate	32327445
Diabetes Mellitus Type 2	Associate	37680885
Fibrosis	Stimulate	36883952
Fibrosis	Associate	37359552
Immune System Diseases	Associate	35486341, 36952639
Immunologic Deficiency Syndromes	Associate	36947335
Infections	Associate	36947335
Leukemia	Associate	12393632
Leukemia Large Granular Lymphocytic	Associate	30838481
Leukemia Lymphocytic Chronic B Cell	Associate	33097837, 36947335
Lymphopenia	Associate	30826364, 36947335
Mitochondrial Diseases	Associate	30826364
Neoplasms	Associate	24951259
Neutrophil Actin Dysfunction	Associate	30838481
Neutrophil Chemotactic Response Abnormal	Associate	36947335
Precancerous Conditions	Associate	30598579
Prostatic Neoplasms	Associate	20412587, 30866497, 32486483
Severe Combined Immunodeficiency	Associate	30838481, 36380073, 36947335
Status Asthmaticus	Associate	36883952
Virus Diseases	Associate	30838481
X Linked Combined Immunodeficiency Diseases	Associate	30838481

DOCK2 (dedicator of cytokinesis 2)