NT5C2

Chr 10

5'-nucleotidase, cytosolic II

Also known as: GMP, NT5B, PNT5, SPG45, SPG65, cN-II

NCBI Gene: 22978ENSG00000076685UniProt: P49902

This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia 45, autosomal recessive

Clinical highlights

Gene-disease validity (ClinGen)
complex hereditary spastic paraplegia · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
29
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.70
LOEUF
DN
Mechanism· predicted
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?
0.70LOEUF
pLI 0.000
Z-score 2.88
OE 0.46 (0.30–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.64Z-score
OE missense 0.58 (0.51–0.66)
181 obs / 312.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.46 (0.30–0.70)
0≤0.351.4
Missense OE?0.58 (0.51–0.66)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 15 / 32.8Missense obs/exp: 181 / 312.5Syn Z: -0.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NT5C2 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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