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Gene

JPH3

junctophilin 3

Summary

Cytogenetic location
16q24.2
Coordinates
Chromosome 16: 87,602,508–87,698,156 (GRCh38)
Exons
5 exons across 95.6 kb
Protein
748 amino acids
Inheritance
Autosomal dominant
Also known as
JP-3, CAGL237, HDL2, JP3
Previous symbols
TNRC22
MANE Select transcript
ENST00000284262.3NM_020655.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Neuroacanthocytosis and Huntington Disease Phenocopies

    • Huntington Disease-Like 2Autosomal dominant

      A Huntington disease-like disorder caused by a CTG/CAG repeat expansion in JPH3, reported mainly in people of African ancestry.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How JPH3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 16, with a bracket where JPH3 sits. JPH3 and 9 genes near it on chromosome 16, from 87,150,332 to 88,150,331.Chromosome 1616q24.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.387.2 Mb87.4 Mb87.6 Mb87.8 Mb88 MbC16orf95: 87,083,562–87,317,431, reverse strandC16orf95: 87,302,876–87,334,273, reverse strandFBXO31: 87,326,987–87,392,142, reverse strandFBXO31MAP1LC3B: 87,383,953–87,405,090, forward strandMAP1LC3BZCCHC14: 87,406,246–87,493,030, reverse strandZCCHC14JPH3: 87,602,508–87,698,156, forward strandJPH3KLHDC4: 87,696,485–87,765,998, reverse strandKLHDC4SLC7A5: 87,830,016–87,869,514, reverse strandSLC7A5CA5A: 87,881,546–87,936,603, reverse strandCA5ABANP: 87,949,127–88,083,442, forward strandBANPDiagram of JPH3: 5 exons on the forward strand of chromosome 16Exon 1: 87,602,508–87,603,528, 1,021 basesExon 2: 87,644,258–87,645,035, 778 basesExon 3: 87,684,142–87,684,266, 125 basesExon 4: 87,689,646–87,690,526, 881 basesExon 5: 87,696,580–87,698,156, 1,577 bases123455′3′

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 95.6 kb; 2,247 of those bases code for the 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

APA

Dante Labs. (n.d.). JPH3 gene: junctophilin 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/jph3

Vancouver

Dante Labs. JPH3 gene: junctophilin 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/jph3

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