JAG2 Chromosome 14
Jagged canonical Notch ligand 2
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What This Gene Does
The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Canonical Notch ligands"
Locus Type
gene with protein product
Location
14q32.33
Ensembl
ENSG00000184916
Associated Conditions (5)
Muscular dystrophy
limb-girdle
autosomal recessive 27
JAG2-related disorder
Orofacial cleft 1
Key Variants
RS2141000225
Conflicting classifications of pathogenicity
Muscular dystrophy, limb-girdle, autosomal recessive 27
Health Risk
RS764146079
Conflicting classifications of pathogenicity
Muscular dystrophy, limb-girdle, autosomal recessive 27
Health Risk
RS78154277
Conflicting classifications of pathogenicity
JAG2-related disorder, Orofacial cleft 1, JAG2-related disorder
Health Risk
RS1377648342
Likely pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 27
Health Risk
RS1426938760
Likely pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 27
Health Risk
RS751347948
Likely pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 27
Health Risk
RS781734780
Likely pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 27
Health Risk
RS2140979845
Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 27
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2141000225 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy, limb-girdle, autosomal recessive 27 |
| RS764146079 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy, limb-girdle, autosomal recessive 27 |
| RS78154277 | Health Risk | Conflicting classifications of pathogenicity | JAG2-related disorder, Orofacial cleft 1, JAG2-related disorder |
| RS1377648342 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 27 |
| RS1426938760 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 27 |
| RS751347948 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 27 |
| RS781734780 | Health Risk | Likely pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 27 |
| RS2140979845 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 27 |