ARF guanine nucleotide exchange factor 2
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Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalMalformations of cortical development
BIALLELIC, autosomal or pseudoautosomalnodular neuronal heterotopia
periventricular nodular heterotopia
hereditary disease
smoking behavior
intelligence
Cachexia
mixed connective tissue disease
Global developmental delay
Seizure
Hydrocephalus
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Brefeldin A-inhibited guanine nucleotide-exchange protein 2
Promotes guanine-nucleotide exchange on ARF1 and ARF3 and to a lower extent on ARF5 and ARF6. Promotes the activation of ARF1/ARF5/ARF6 through replacement of GDP with GTP. Involved in the regulation of Golgi vesicular transport. Required for the integrity of the endosomal compartment. Involved in trafficking from the trans-Golgi network (TGN) to endosomes and is required for membrane association of the AP-1 complex and GGA1. Seems to be involved in recycling of the transferrin receptor from recycling endosomes to the plasma membrane. Probably is involved in the exit of GABA(A) receptors from the endoplasmic reticulum. Involved in constitutive release of tumor necrosis factor receptor 1 via exosome-like vesicles; the function seems to involve PKA and specifically PRKAR2B. Proposed to act as A kinase-anchoring protein (AKAP) and may mediate crosstalk between Arf and PKA pathways
ARFGEF2 · Q9Y6D5
Mean pLDDT
76.8/ 100
Confident
1,785 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
