JAG2

Chr 14

jagged canonical Notch ligand 2

Also known as: HJ2, LGMDR27, SER2

NCBI Gene: 3714 ENSG00000184916 UniProt: Q9Y219

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.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy, limb-girdle, autosomal recessive 27

Clinical highlights

Gene-disease validity (ClinGen)

autosomal recessive limb-girdle muscular dystrophy · ARModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.14

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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