ARL17B

Chr 17

ARF like GTPase 17B

Also known as: ARL17

NCBI Gene: 100506084 ENSG00000228696 UniProt: I3L3L1

ARL17B encodes a small GTP-binding protein that cycles between GDP-bound and GTP-bound forms and is predicted to function in intracellular protein transport at the Golgi apparatus. The gene shows low constraint to loss-of-function variation (pLI 0.34, LOEUF 1.84), but no established disease associations or inheritance patterns have been reported for this gene. Clinical significance of ARL17B variants in pediatric neurological conditions remains unclear.

ResearchSummary from RefSeq, UniProt

Predicted to enable GTP binding activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

DNmechanismLOEUF 1.83

Clinical Summary— ARL17B

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.83LOEUF

pLI 0.336

Z-score 0.66

OE 0.00 (0.00–1.83)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.92Z-score

OE missense 0.00 (0.00–0.45)

0 obs / 6.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–1.83)

0≤0.351.4

Missense OE?0.00 (0.00–0.45)

0≤0.61.4

Synonymous OE?0.00

0≤1.21.6

LoF obs/exp: 0 / 0.5Missense obs/exp: 0 / 6.6Syn Z: 1.20

This gene — mechanism propensity

0.76top 25%

GOF

0.5464th %ile

LOF

0.3842th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

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