DOCK2 (dedicator of cytokinesis 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1794
Gene name Gene Name - the full gene name approved by the HGNC.
Dedicator of cytokinesis 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DOCK2
Synonyms (NCBI Gene) Gene synonyms aliases
IMD40
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
miRTarBase ID miRNA Experiments Reference
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603122 2988 ENSG00000134516
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Chemokine signaling pathway   Nef and signal transduction
Neutrophil degranulation
Factors involved in megakaryocyte development and platelet production
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
DOCK2 Deficiency dock2 deficiency rs1561585424, rs1561898523, rs1581531492, rs1756328793, rs1761749097, rs2113843664, rs762909359, rs780318765, rs1581090174, rs2113559002 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Breast Cancer Breast cancer subtype (triple negative vs luminal A-like), Breast cancer N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Neuroblastoma Neuroblastoma N/A N/A GWAS
Show/Hide Text Mining Associations (31)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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