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NEPRO

Chr 3

ribonuclease MRP subunit p64

Also known as: ANXD3, C3orf17, NEPRO, NET17

Predicted to be involved in negative regulation of neuron differentiation and positive regulation of Notch signaling pathway. Predicted to be located in nucleolus. Predicted to be active in nucleus. Implicated in anauxetic dysplasia 3. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAnauxetic dysplasia 3
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
0.97
LOEUF
Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/NEPRO?content-type=application/json

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.000
Z-score 1.68
OE 0.64 (0.430.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.09Z-score
OE missense 1.01 (0.921.12)
299 obs / 294.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.64 (0.430.97)
00.351.4
Missense OE?1.01 (0.921.12)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 16 / 25.1Missense obs/exp: 299 / 294.7Syn Z: 1.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NEPRO · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →