Proteins/UNIPROT:Q9H4E7

DEF6

ProteinUNIPROT:Q9H4E7

Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which plays a role in the activation of Rho GTPases RAC1, RhoA and CDC42. Can regulate cell morphology in cooperation with activated RAC1 (By similarity). Involved in immune homeostasis by ensuring proper trafficking and availability of T-cell regulator CTLA-4 at T-cell surface. Plays a role in Th2 (T helper cells) development and/or activation, perhaps by interfering with ZAP70 signaling (By similarity)..

Function from UniProtKB (Q9H4E7), read 2026-09-23. CC BY 4.0.

Curated compounds routed: 0

What the reference databases state

GenCC submitters' classifications

1 row

immunodeficiency 87 and autoimmunity has a germline basis in DEF6DiseaseGenCC HGNC:2760|MONDO:0030457Inferred only

Statements

21 statements

21 statements · 3 reference databases · Subject: DEF6 · Sources: gene ontology, Hetionet, Reactome

Order

DEF6 covaries with BTN2A2ProteinHetionet hetionet:covaries:10385-50619Inferred only
DEF6 covaries with H2AC11; H2AC13; H2AC15; H2AC16; H2AC17ProteinHetionet hetionet:covaries:50619-8330Inferred only
XKR6 covaries with DEF6ProteinHetionet hetionet:covaries:286046-50619Inferred only
APP interacts with DEF6ProteinHetionet hetionet:interacts:351-50619Inferred only
DEF6 interacts with BEGAINProteinHetionet hetionet:interacts:50619-57596Inferred only
CDC42 interacts with DEF6ProteinHetionet hetionet:interacts:50619-998Inferred only
IRF4 interacts with DEF6ProteinHetionet hetionet:interacts:3662-50619Inferred only
LCK interacts with DEF6ProteinHetionet hetionet:interacts:3932-50619Inferred only
RAC1 interacts with DEF6ProteinHetionet hetionet:interacts:50619-5879Inferred only
RAC2 interacts with DEF6ProteinHetionet hetionet:interacts:50619-5880Inferred only
RHOA interacts with DEF6ProteinHetionet hetionet:interacts:387-50619Inferred only
ZAP70 interacts with DEF6ProteinHetionet hetionet:interacts:50619-7535Inferred only

Show the remaining 9

DEF6 participates in CDC42 GTPase cyclePathwayReactome R-HSA-9013148Inferred only
DEF6 participates in RAC1 GTPase cyclePathwayReactome R-HSA-9013149Inferred only
DEF6 participates in RAC2 GTPase cyclePathwayReactome R-HSA-9013404Inferred only
DEF6 participates in RHO GTPase cyclePathwayReactome R-HSA-9012999Inferred only
DEF6 participates in RHOA GTPase cyclePathwayReactome R-HSA-8980692Inferred only
DEF6 participates in Signal TransductionPathwayReactome R-HSA-162582Inferred only
DEF6 participates in Signaling by Rho GTPasesPathwayReactome R-HSA-194315Inferred only
DEF6 participates in Signaling by Rho GTPases, Miro GTPases and RHOBTB3PathwayReactome R-HSA-9716542Inferred only
DEF6 regulates regulation of small GTPase mediated signal transductionBiological processgene ontology Q9H4E7|GO:0051056Inferred only

Other names

3 names

Resolves to: DEF6

Also called: DEF-6IBPIRF4-binding protein

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