ARL6

Chr 3ARDigenic recessive

ARF like GTPase 6

Also known as: BBS3, RP55

The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]

OMIMResearchGenerating clinical summary…
LOFmechanismAR/Digenic recessiveLOEUF 0.923 OMIM phenotypes
Clinical SummaryARL6
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Gene-Disease Validity (ClinGen)
ciliopathy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.92LOEUF
pLI 0.010
Z-score 1.77
OE 0.44 (0.230.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.56Z-score
OE missense 0.84 (0.701.01)
81 obs / 96.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.230.92)
00.351.4
Missense OE?0.84 (0.701.01)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 5 / 11.5Missense obs/exp: 81 / 96.3Syn Z: 0.18
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveARL6-related Bardet-Biedl syndromeLOFAR
strongARL6-related retinal dystrophyOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.78top 25%
GOF
0.72top 25%
LOF
0.2679th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ARL6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.