ARFGEF2 Chromosome 20
ARF guanine nucleotide exchange factor 2
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What This Gene Does
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"A-kinase anchoring proteins|Armadillo like helical domain containing|ArfGEF family"
Locus Type
gene with protein product
Location
20q13.13
Ensembl
ENSG00000124198
Associated Conditions (11)
Periventricular heterotopia with microcephaly
autosomal recessive
Intellectual disability
ARFGEF2-related disorder
Hepatocellular carcinoma
Sarcoma
Inborn genetic diseases
Periventricular laminar heterotopia
Global developmental delay
Seizure
Hydrocephalus
Key Variants
RS117131028
Conflicting classifications of pathogenicity
Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly
Health Risk
RS117818460
Conflicting classifications of pathogenicity
Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly
Health Risk
RS139037316
Conflicting classifications of pathogenicity
Periventricular heterotopia with microcephaly, autosomal recessive, Intellectual disability
Health Risk
RS140378669
Conflicting classifications of pathogenicity
Health Risk
RS143570842
Conflicting classifications of pathogenicity
Periventricular heterotopia with microcephaly, autosomal recessive, ARFGEF2-related disorder
Health Risk
RS145545997
Conflicting classifications of pathogenicity
Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly
Health Risk
RS146772848
Conflicting classifications of pathogenicity
Periventricular heterotopia with microcephaly, autosomal recessive, ARFGEF2-related disorder
Health Risk
RS147534008
Conflicting classifications of pathogenicity
Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly
Health Risk
RS147617265
Conflicting classifications of pathogenicity
Health Risk
RS148770948
Conflicting classifications of pathogenicity
ARFGEF2-related disorder, Periventricular heterotopia with microcephaly, autosomal recessive
Health Risk
RS149172723
Conflicting classifications of pathogenicity
Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly
Health Risk
RS150046458
Conflicting classifications of pathogenicity
Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1600546214 | Health Risk | Likely pathogenic | — |
| RS2091529784 | Health Risk | Likely pathogenic | Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly |
| RS2091537662 | Health Risk | Likely pathogenic | Periventricular laminar heterotopia, Periventricular laminar heterotopia |
| RS2515542106 | Health Risk | Likely pathogenic | Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly |
| RS2515577949 | Health Risk | Likely pathogenic | — |
| RS2515997041 | Health Risk | Likely pathogenic | Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly |
| RS1380925561 | Health Risk | Pathogenic | Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly |
| RS1555811929 | Health Risk | Pathogenic | Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly |
| RS1568711950 | Health Risk | Pathogenic | Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly |
| RS1600623496 | Health Risk | Pathogenic | Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly |
| RS2091501415 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2123451347 | Health Risk | Pathogenic | — |
| RS2515513944 | Health Risk | Pathogenic | — |
| RS2516043040 | Health Risk | Pathogenic | — |
| RS374632843 | Health Risk | Pathogenic | Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly |
| RS398122523 | Health Risk | Pathogenic | Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly |
| RS730882200 | Health Risk | Pathogenic | Global developmental delay, Seizure, Hydrocephalus |
| RS772953658 | Health Risk | Pathogenic | Periventricular heterotopia with microcephaly, autosomal recessive, Periventricular heterotopia with microcephaly |