Gene
JAG2
jagged canonical Notch ligand 2
- HGNC 6189↗(opens in a new tab)
- Ensembl gene ENSG00000184916↗(opens in a new tab)
- NCBI Gene 3714↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q32.33
- Coordinates
- Chromosome 14: 105,140,995–105,168,776 (GRCh38)
- Exons
- 26 exons across 27.8 kb
- Protein
- 1,238 amino acids
- MANE Select transcript
- ENST00000331782.8NM_002226.5
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
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Get my Genome TestCurated report relevant to this gene
Limb-Girdle Muscular Dystrophy
Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.
- ClinGen rates the link moderate
- 3 GenCC submitters rate it definitive or strong
How JAG2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.8 kb of the gene's 27.8 kb; 3,717 of those bases code for the protein.
Sequencing JAG2
9Low
How hard JAG2 is to sequence with short reads, out of 100Each bar is the share of JAG2's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.11%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.76%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
5
positions in JAG2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 27.8 kb of JAG2, introns included, not only the 5.8 kb of exons.
Genes linked to the same conditions
- ANO5anoctamin 5Shares 1 condition
- CAPN3calpain 3Shares 1 condition
- COL6A1collagen type VI alpha 1 chainShares 1 condition
- COL6A2collagen type VI alpha 2 chainShares 1 condition
- COL6A3collagen type VI alpha 3 chainShares 1 condition
- DAG1dystroglycan 1Shares 1 condition
- DNAJB6DnaJ heat shock protein family (Hsp40) member B6Shares 1 condition
- DYSFdysferlinShares 1 condition
- FKRPfukutin related proteinShares 1 condition
- FKTNfukutinShares 1 condition
- GMPPBGDP-mannose pyrophosphorylase BShares 1 condition
- HMGCR3-hydroxy-3-methylglutaryl-CoA reductaseShares 1 condition
Traits linked to JAG2
The Human Phenotype Ontology lists these as features of the rare conditions JAG2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- EMG: myopathic abnormalities
- Muscular dystrophy
- Neck muscle weakness
- Muscle degeneration
- Reduced spine movement
- Scoliosis
- Increased skeletal muscle cells
- Increased variability in muscle fiber diameter
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). JAG2 gene: jagged canonical Notch ligand 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/jag2
Dante Labs. JAG2 gene: jagged canonical Notch ligand 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/jag2
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