NOMO1

Chr 16

NODAL modulator 1

Also known as: Nomo, PM5

NCBI Gene: 23420ENSG00000103512UniProt: Q15155

This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). [provided by RefSeq, Jul 2008]

336
ClinVar variants
86
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— NOMO1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
86 Pathogenic / Likely Pathogenic· 234 VUS of 336 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.02LOEUF
pLI 0.000
Z-score 1.43
OE 0.77 (0.59–1.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.52Z-score
OE missense 0.93 (0.86–1.01)
454 obs / 486.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.77 (0.59–1.02)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.93 (0.86–1.01)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.11
0≤1.21.6
LoF obs/exp: 35 / 45.4Missense obs/exp: 454 / 486.1Syn Z: -1.19

ClinVar Variant Classifications

336 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic63
Likely Pathogenic23
VUS234
Likely Benign15
Benign1
63
Pathogenic
23
Likely Pathogenic
234
VUS
15
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
63
0
63
Likely Pathogenic
0
0
23
0
23
VUS
0
165
69
0
234
Likely Benign
0
7
3
5
15
Benign
0
0
0
1
1
Total01721586336

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NOMO1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
NODAL MODULATOR 1; NOMO1
MIM #609157 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Nomo1 deficiency causes autism-like behavior in zebrafish.
Zhang Q et al.·EMBO Rep
2024Functional
T(H)1 cytokines induce senescence in AML.
Hashimoto H et al.·Leuk Res
2022
NOMO-1 gene is deleted in early-onset colorectal cancer.
Perea J et al.·Oncotarget
2017
Population-wide copy number variation calling using variant call format files from 6,898 individuals.
Png G et al.·Genet Epidemiol
2020
Mechanisms of Pinometostat (EPZ-5676) Treatment-Emergent Resistance in MLL-Rearranged Leukemia.
Campbell CT et al.·Mol Cancer Ther
2017Functional
Diagnostic Efficiency of Age-Adjusted PSAD for Prostate Cancer and Clinically Significant Prostate Cancer: Construction and Nomogram Validation.
Liu Z et al.·J Clin Lab Anal
2026
Aberrant Mer receptor tyrosine kinase expression contributes to leukemogenesis in acute myeloid leukemia.
Lee-Sherick AB et al.·Oncogene
2013
Increased sensitivity of multidrug-resistant myeloid leukemia cell lines to lovastatin.
Maksumova L et al.·Leukemia
2000
New flow cytometric method for detection of minimally expressed multidrug resistance P-glycoprotein on normal and acute leukemia cells using biotinylated MRK16 and streptavidin-RED670 conjugate.
Takeshita A et al.·Jpn J Cancer Res
1995
Amount of mpl on bone marrow haemopoietic precursor cells from healthy volunteers and patients with refractory anaemia.
Takeshita A et al.·Br J Haematol
1997Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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