ARF3 Chromosome 12
ARF GTPase 3
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What This Gene Does
ADP-ribosylation factor 3 (ARF3) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6) and members of each class share a common gene organization. [provided by RefSeq, Oct 2022]
Gene Info
Gene Group
ARF GTPase family
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000134287
Associated Conditions (14)
Intellectual disability
Atrophy/Degeneration affecting the central nervous system
Seizure
Microcephaly
Dystonic disorder
Scoliosis
7 conditions
Kyphosis
Hypotonia
Pectus excavatum
12 conditions
Myopathic facies
Global developmental delay
See cases
Key Variants
RS2498897350
Conflicting classifications of pathogenicity
Intellectual disability, Atrophy/Degeneration affecting the central nervous system, Seizure
Health Risk
RS1940246962
Likely pathogenic
Intellectual disability, Atrophy/Degeneration affecting the central nervous system, Microcephaly
Health Risk
RS2498892982
Pathogenic
7 conditions, 7 conditions
Health Risk
RS2498894678
Pathogenic
Intellectual disability, Atrophy/Degeneration affecting the central nervous system, Microcephaly
Health Risk
RS2498897479
Pathogenic
Intellectual disability, Kyphosis, Atrophy/Degeneration affecting the central nervous system
Health Risk
RS2498893389
Pathogenic/Likely pathogenic
Hypotonia, Microcephaly, Intellectual disability
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2498897350 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Atrophy/Degeneration affecting the central nervous system, Seizure |
| RS1940246962 | Health Risk | Likely pathogenic | Intellectual disability, Atrophy/Degeneration affecting the central nervous system, Microcephaly |
| RS2498892982 | Health Risk | Pathogenic | 7 conditions, 7 conditions |
| RS2498894678 | Health Risk | Pathogenic | Intellectual disability, Atrophy/Degeneration affecting the central nervous system, Microcephaly |
| RS2498897479 | Health Risk | Pathogenic | Intellectual disability, Kyphosis, Atrophy/Degeneration affecting the central nervous system |
| RS2498893389 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, Microcephaly, Intellectual disability |