Gene
JAM2
junctional adhesion molecule 2
- HGNC 14686↗(opens in a new tab)
- Ensembl gene ENSG00000154721↗(opens in a new tab)
- NCBI Gene 58494↗(opens in a new tab)
Summary
- Cytogenetic location
- 21q21.3
- Coordinates
- Chromosome 21: 25,639,258–25,717,562 (GRCh38)
- Exons
- 10 exons across 78.3 kb
- Protein
- 298 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- VE-JAM, JAM-B, JAMB, CD322, JAM-2
- Previous symbols
- C21orf43
- MANE Select transcript
- ENST00000480456.6NM_021219.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Basal Ganglia Calcification
- Basal Ganglia Calcification, Idiopathic, 8, Autosomal RecessiveAutosomal recessive
- 3 GenCC submitters rate it definitive or strong
- Primary Familial Brain Calcification (All Types)
Umbrella term covering primary familial brain calcification (bilateral striopallidodentate calcinosis), including the dominant SLC20A2, PDGFRB, PDGFB and XPR1 forms and the recessive MYORG and JAM2 forms.
- 3 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How JAM2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 4.4 kb of the gene's 78.3 kb; 897 of those bases code for the protein.
Genes linked to the same conditions
- MYORGmyogenesis regulating glycosidaseShares 1 condition
- NAA60N-alpha-acetyltransferase 60, NatF catalytic subunitShares 1 condition
- PDGFBplatelet derived growth factor subunit BShares 1 condition
- PDGFRBplatelet derived growth factor receptor betaShares 1 condition
- SLC20A2solute carrier family 20 member 2Shares 1 condition
- XPR1xenotropic and polytropic retrovirus receptor 1Shares 1 condition
Traits linked to JAM2
The Human Phenotype Ontology lists these as features of the rare conditions JAM2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Limb ataxia
- Anxiety
- Babinski sign
- Bilateral basal ganglia lesions
- Brisk reflexes
- Choreoathetosis
- Dementia
- Difficulty articulating speech
Show 33 more traits
- Epilepsy
- Headache
- Mental deterioration
- Parkinsonism
- Personality changes
- Psychosis
- Slow movements
- Thalamic calcification
- Tremor
- Worsening neurological symptoms
- Abnormal pyramidal sign
- Autism spectrum disorder
- Clumsiness
- Disorder of involuntary muscle movements
- Dystonia
- Generalized dystonia
- Global developmental delay
- Involuntary movements
- Limb dystonia
- Memory impairment
- Orofacial dyskinesia
- Poor concentration
- Slurred speech
- Unsteady walk
- Abnormal gait
- Balance impairment
- Chorea
- Depression
- Difficulty performing quick and alternating movements
- Increased reflexes
- Involuntary writhing movements in fingers, hands, toes, and feet
- Micrographia
- Uncoordinated limb movement
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 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). JAM2 gene: junctional adhesion molecule 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/jam2
Dante Labs. JAM2 gene: junctional adhesion molecule 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/jam2
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