NME7

Chr 1

NME/NM23 family member 7

Also known as: CFAP67, MN23H7, NDK 7, NDK7, nm23-H7

This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
0.91
LOEUF
Mechanism
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?
0.91LOEUF
pLI 0.000
Z-score 1.88
OE 0.56 (0.360.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.50Z-score
OE missense 0.90 (0.801.02)
184 obs / 204.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.360.91)
00.351.4
Missense OE?0.90 (0.801.02)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 12 / 21.4Missense obs/exp: 184 / 204.3Syn Z: 0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NME7 · 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 →