ENTPD1

Chr 10

ectonucleoside triphosphate diphosphohydrolase 1

Also known as: ATP-DPH, ATPDase, CD39, NTPDase-1, SPG64

NCBI Gene: 953ENSG00000138185UniProt: P49961

The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia 64, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)
complex hereditary spastic paraplegia · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
43
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.60
LOEUF
LOF
Mechanism· G2P
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GeneReview available — ENTPD1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.60LOEUF
pLI 0.008
Z-score 3.02
OE 0.33 (0.20–0.60)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.83Z-score
OE missense 0.86 (0.77–0.96)
226 obs / 264.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.33 (0.20–0.60)
0≤0.351.4
Missense OE?0.86 (0.77–0.96)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 8 / 24.0Missense obs/exp: 226 / 264.1Syn Z: 1.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ENTPD1 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients