ARL2BP Chromosome 16
ARF like GTPase 2 binding protein
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What This Gene Does
ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]
Associated Conditions (6)
Retinal dystrophy
Retinitis pigmentosa with or without situs inversus
Retinitis pigmentosa
ARL2BP-related disorder
Cholangiocarcinoma
Autosomal recessive retinitis pigmentosa
Key Variants
RS1347083065
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS2146428393
Conflicting classifications of pathogenicity
Retinitis pigmentosa with or without situs inversus, Retinitis pigmentosa with or without situs inversus
Health Risk
RS2075389484
Likely pathogenic
Health Risk
RS2146430397
Likely pathogenic
Health Risk
RS751471386
Likely pathogenic
Retinitis pigmentosa with or without situs inversus, Retinitis pigmentosa with or without situs inversus
Health Risk
RS1286765014
Pathogenic
Health Risk
RS1597951232
Pathogenic
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS199830550
Pathogenic
Retinal dystrophy, ARL2BP-related disorder, Retinitis pigmentosa with or without situs inversus
Health Risk
RS201489348
Pathogenic
Health Risk
RS2545930144
Pathogenic
Retinitis pigmentosa, Retinitis pigmentosa with or without situs inversus, Retinitis pigmentosa
Health Risk
RS2545932661
Pathogenic
Health Risk
RS753029079
Pathogenic
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1347083065 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS2146428393 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa with or without situs inversus, Retinitis pigmentosa with or without situs inversus |
| RS2075389484 | Health Risk | Likely pathogenic | — |
| RS2146430397 | Health Risk | Likely pathogenic | — |
| RS751471386 | Health Risk | Likely pathogenic | Retinitis pigmentosa with or without situs inversus, Retinitis pigmentosa with or without situs inversus |
| RS1286765014 | Health Risk | Pathogenic | — |
| RS1597951232 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS199830550 | Health Risk | Pathogenic | Retinal dystrophy, ARL2BP-related disorder, Retinitis pigmentosa with or without situs inversus |
| RS201489348 | Health Risk | Pathogenic | — |
| RS2545930144 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa with or without situs inversus, Retinitis pigmentosa |
| RS2545932661 | Health Risk | Pathogenic | — |
| RS753029079 | Health Risk | Pathogenic | — |
| RS754087233 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS757449294 | Health Risk | Pathogenic | — |
| RS879255568 | Health Risk | Pathogenic | Retinitis pigmentosa with or without situs inversus, Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa |