NT5E

Chr 6

5'-nucleotidase ecto

Also known as: CALJA, CD73, E5NT, NT, NT5, NTE, eN, eNT

The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCalcification of joints and arteries
4
Active trials
107
Pubs (1 yr)
P/LP submissions
P/LP missense
1.18
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.18LOEUF
pLI 0.000
Z-score 0.88
OE 0.81 (0.561.18)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.60Z-score
OE missense 0.91 (0.821.00)
291 obs / 321.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.81 (0.561.18)
00.351.4
Missense OE?0.91 (0.821.00)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 19 / 23.6Missense obs/exp: 291 / 321.5Syn Z: 1.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NT5E · protein map & ClinVar variants

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