JAG2

Chr 14AR

jagged canonical Notch ligand 2

Also known as: HJ2, LGMDR27, SER2

NCBI Gene: 3714ENSG00000184916UniProt: Q9Y219OMIM: 602570

The protein encoded by JAG2 is a Notch signaling ligand that activates Notch receptors and is involved in limb development. Mutations cause limb-girdle muscular dystrophy type 27, inherited in an autosomal recessive pattern. JAG2 is highly constrained against loss-of-function variants, indicating the gene is intolerant to mutation.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.141 OMIM phenotype
Clinical Summary— JAG2
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Gene-Disease Validity (ClinGen)
autosomal recessive limb-girdle muscular dystrophy · ARModerate

Moderate evidence — consider for supplementary testing

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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.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.14LOEUF
pLI 1.000
Z-score 6.95
OE 0.06 (0.03–0.14)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
2.20Z-score
OE missense 0.78 (0.73–0.83)
626 obs / 801.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.06 (0.03–0.14)
0≤0.351.4
Missense OE0.78 (0.73–0.83)
0≤0.61.4
Synonymous OE1.16
0≤1.21.6
LoF obs/exp: 4 / 63.9Missense obs/exp: 626 / 801.0Syn Z: -2.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

JAG2 · 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
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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 5 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