NME9

Chr 3

NME/NM23 family member 9

Also known as: NM23-H9, NXL2, TXL-2, TXL2, TXNDC6

NCBI Gene: 347736 ENSG00000181322 UniProt: Q86XW9 OMIM: 618584

Predicted to enable nucleoside diphosphate kinase activity. Predicted to be involved in CTP biosynthetic process; GTP biosynthetic process; and UTP biosynthetic process. Predicted to be located in dynein axonemal particle. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.30

LOEUF

GOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.30LOEUF

pLI 0.000

Z-score 0.63

OE 0.83 (0.55–1.30)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.96Z-score

OE missense 0.78 (0.67–0.91)

116 obs / 149.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.83 (0.55–1.30)

0≤0.351.4

Missense OE?0.78 (0.67–0.91)

0≤0.61.4

Synonymous OE?1.24

0≤1.21.6

LoF obs/exp: 14 / 16.8Missense obs/exp: 116 / 149.0Syn Z: -1.40

Background carrier burden — how many people carry a rare variant somewhere in NME9?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

378 rare PASS variants

Rare truncating (LoF)

1 in 1,600

100 rare PASS variants

Rare synonymous (reference)

1 in 210

143 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for NME9. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 140	1 in 1,800
South Asian	~43k	1 in 140	1 in 1,600
Remaining (unassigned)	~30k	1 in 98	1 in 620
European (Finnish)	~27k	1 in 650	≈ 1 in 25,000
Admixed American	~22k	1 in 95	1 in 1,000
African / African American	~21k	1 in 170	1 in 680
East Asian	~20k	1 in 180	1 in 660
Ashkenazi Jewish	~13k	1 in 960	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 210	≈ 1 in 950

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 10 of 11 coding exons well covered in gnomAD exomes; exon 6 marginal. Genomes: all 11.? see exons ↓