ADPRM

Chr 17

ADP-ribose/CDP-alcohol diphosphatase, manganese dependent

Also known as: C17orf48, MDS006, NBLA03831

NCBI Gene: 56985 ENSG00000170222 UniProt: Q3LIE5 OMIM: 621211

The protein hydrolyzes ADP-ribose and related molecules including IDP-ribose, CDP-glycerol, CDP-choline and CDP-ethanolamine, and may function in immune cell signaling through ADP-ribose-mediated activation of TRPM2 during oxidative stress. Currently, no human diseases have been definitively associated with ADPRM mutations in the medical literature. The gene shows low constraint against loss-of-function variants, suggesting that complete loss of function may be tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable 2',3'-cyclic-nucleotide 2'-phosphodiesterase activity; manganese ion binding activity; and pyrophosphatase activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 1.11

Clinical Summary— ADPRM

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.11LOEUF

pLI 0.000

Z-score 1.31

OE 0.59 (0.33–1.11)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.01Z-score

OE missense 0.79 (0.69–0.91)

144 obs / 182.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.59 (0.33–1.11)

0≤0.351.4

Missense OE?0.79 (0.69–0.91)

0≤0.61.4

Synonymous OE?0.85

0≤1.21.6

LoF obs/exp: 7 / 11.9Missense obs/exp: 144 / 182.2Syn Z: 0.95

This gene — mechanism propensity

0.6357th %ile

GOF

0.5366th %ile

LOF

0.2970th %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.