ARL2BP

Chr 16

ARF like GTPase 2 binding protein

Also known as: BART, BART1, RP66, RP82

NCBI Gene: 23568 ENSG00000102931 UniProt: Q9Y2Y0

The protein encoded by ARL2BP binds specifically to activated ARL2-GTP and facilitates nuclear translocation and transcriptional activity of STAT3. Mutations cause autosomal recessive retinitis pigmentosa 82, which may be associated with situs inversus affecting both ocular and cardiac/pulmonary organ systems. The gene shows low constraint against loss-of-function variants (pLI <0.001, LOEUF 1.35), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinitis pigmentosa 82 with or without situs inversus

Clinical highlights

Gene-disease validity (ClinGen)

ciliopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.35

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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