NUP37

Chr 12AR

nucleoporin 37

Also known as: MCPH24, p37

NCBI Gene: 79023ENSG00000075188UniProt: Q8NFH4OMIM: 609264

NUP37 encodes a component of the Nup107-160 subcomplex that is essential for nuclear pore complex assembly and for proper kinetochore-microtubule attachment during mitosis. Mutations cause primary microcephaly with autosomal recessive inheritance, though the phenotype requires further confirmation as indicated by the question mark designation. The gene shows very low constraint against loss-of-function variants (pLI near 0), which is consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.931 OMIM phenotype
Clinical Summary— NUP37
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
10 unique Pathogenic / Likely Pathogenic· 55 VUS of 85 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.93LOEUF
pLI 0.000
Z-score 1.80
OE 0.56 (0.35–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.47Z-score
OE missense 0.90 (0.79–1.03)
152 obs / 169.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.56 (0.35–0.93)
0≤0.351.4
Missense OE0.90 (0.79–1.03)
0≤0.61.4
Synonymous OE0.82
0≤1.21.6
LoF obs/exp: 11 / 19.6Missense obs/exp: 152 / 169.2Syn Z: 1.10

ClinVar Variant Classifications

85 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic9
Likely Pathogenic1
VUS55
Likely Benign4
Benign4
9
Pathogenic
1
Likely Pathogenic
55
VUS
4
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
3
0
6
0
9
Likely Pathogenic
1
0
0
0
1
VUS
0
44
11
0
55
Likely Benign
0
2
1
1
4
Benign
0
1
2
1
4
Total44720273

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

View in ClinVar →

Protein Context — Lollipop Plot

NUP37 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients