NT5C2

Chr 10q24.32-q24.33

5'-nucleotidase, cytosolic II

Aliases:: PNT5, GMP, cN-II, SPG65
MANE:: ENST00000404739.8

OMIM: 600417 ↗NCBI: 22978 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

NT5C2 · P49902

v62025-08-01

Predicted Aligned Error matrix for NT5C2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.9/ 100

Confident

561 residues

Confidence breakdown

Very high(≥ 90)76%
Confident(70–90)11%
Low(50–70)10%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Autosomal recessive spastic paraplegia type 48
0.76
hereditary spastic paraplegia 45
0.69
Autosomal recessive spastic paraplegia type 45
0.61
hypertensive disorder
0.40
schizophrenia
0.38
T-cell acute lymphoblastic leukemia
0.37
Intellectual disability
0.37
lymphoid neoplasm
0.37
carcinoma of liver and intrahepatic biliary tract
0.37
colorectal adenocarcinoma
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytosolic purine 5'-nucleotidase

Broad specificity cytosolic 5'-nucleotidase that catalyzes the dephosphorylation of 6-hydroxypurine nucleoside 5'-monophosphates (PubMed:10092873, PubMed:12907246, PubMed:1659319, PubMed:9371705). In addition, possesses a phosphotransferase activity by which it can transfer a phosphate from a donor nucleoside monophosphate to an acceptor nucleoside, preferably inosine, deoxyinosine and guanosine (PubMed:1659319, PubMed:9371705). Has the highest activities for IMP and GMP followed by dIMP, dGMP and XMP (PubMed:10092873, PubMed:12907246, PubMed:1659319, PubMed:9371705). Could also catalyze the transfer of phosphates from pyrimidine monophosphates but with lower efficiency (PubMed:1659319, PubMed:9371705). Through these activities regulates the purine nucleoside/nucleotide pools within the cell (PubMed:10092873, PubMed:12907246, PubMed:1659319, PubMed:9371705)