NTNG2

Chr 9AR

netrin G2

Also known as: LHLL9381, Lmnt2, NEDBASH, NTNG1, NetrinG2, bA479K20.1

NCBI Gene: 84628ENSG00000196358UniProt: Q96CW9OMIM: 618689

The netrin-G2 protein controls neuronal circuit formation and promotes neurite outgrowth of both axons and dendrites. Autosomal recessive mutations cause a neurodevelopmental disorder characterized by behavioral abnormalities, absent speech, and hypotonia. This gene is highly constrained against loss-of-function variants (pLI 0.999, LOEUF 0.201), indicating that biallelic mutations are likely to have significant developmental consequences.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.201 OMIM phenotype
Clinical Summary— NTNG2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
43 unique Pathogenic / Likely Pathogenic· 70 VUS of 142 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.20LOEUF
pLI 0.999
Z-score 4.31
OE 0.04 (0.01–0.20)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.93Z-score
OE missense 0.55 (0.49–0.63)
191 obs / 344.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.04 (0.01–0.20)
0≤0.351.4
Missense OE0.55 (0.49–0.63)
0≤0.61.4
Synonymous OE0.88
0≤1.21.6
LoF obs/exp: 1 / 23.6Missense obs/exp: 191 / 344.2Syn Z: 1.14

ClinVar Variant Classifications

142 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic7
VUS70
Likely Benign17
Benign4
Conflicting1
36
Pathogenic
7
Likely Pathogenic
70
VUS
17
Likely Benign
4
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
0
34
0
36
Likely Pathogenic
0
6
1
0
7
VUS
1
58
11
0
70
Likely Benign
0
2
2
13
17
Benign
0
1
1
2
4
Conflicting
—1
Total3674915135

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

View in ClinVar →

Protein Context — Lollipop Plot

NTNG2 · 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.

Search ClinicalTrials.gov →
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