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Gene

TJP2

tight junction protein 2

Summary

Cytogenetic location
9q21.11
Coordinates
Chromosome 9: 69,174,277–69,255,208 (GRCh38)
Exons
23 exons across 80.9 kb
Protein
1,190 amino acids
Inheritance
Autosomal recessive
Also known as
ZO-2, X104, ZO2
Previous symbols
DFNA51
MANE Select transcript
ENST00000377245.9NM_004817.4
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

  • Familial Intrahepatic Cholestasis

    • Autosomal recessive

      An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome.

      • 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 TJP2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where TJP2 sits. TJP2 and 8 genes near it on chromosome 9, from 68,714,743 to 69,714,742.Chromosome 99q21.11p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.368.8 Mb69 Mb69.2 Mb69.4 Mb69.6 MbPIP5K1B: 68,705,185–69,009,191, forward strandPIP5K1BPABIR1: 68,780,065–68,785,566, forward strandPABIR1PRKACG: 69,012,504–69,014,113, reverse strandPRKACGFXN: 69,035,730–69,079,076, forward strandFXN: 69,035,747–69,255,187, forward strandTJP2: 69,174,277–69,255,208, forward strandTJP2ENTREP1: 69,324,567–69,392,620, forward strandENTREP1APBA1: 69,427,532–69,672,392, reverse strandAPBA1PTAR1: 69,709,522–69,760,065, reverse strandPTAR1Diagram of TJP2: 23 exons on the forward strand of chromosome 9Exon 1: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 16: 1 known disease-causing siteExon 17: 4 known disease-causing sitesExon 18: 1 known disease-causing siteExon 20: 2 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 1: 69,174,277–69,174,432, 156 basesExon 2: 69,212,548–69,212,601, 54 basesExon 3: 69,216,339–69,216,463, 125 basesExon 4: 69,218,257–69,218,359, 103 basesExon 5: 69,220,887–69,221,496, 610 basesExon 6: 69,225,304–69,225,407, 104 basesExon 7: 69,226,022–69,226,175, 154 basesExon 8: 69,227,765–69,227,873, 109 basesExon 9: 69,227,981–69,228,114, 134 basesExon 10: 69,229,184–69,229,250, 67 basesExon 11: 69,230,082–69,230,232, 151 basesExon 12: 69,234,439–69,234,547, 109 basesExon 13: 69,236,028–69,236,238, 211 basesExon 14: 69,236,949–69,237,136, 188 basesExon 15: 69,237,878–69,237,973, 96 basesExon 16: 69,238,710–69,238,789, 80 basesExon 17: 69,239,937–69,240,147, 211 basesExon 18: 69,246,690–69,246,790, 101 basesExon 19: 69,248,012–69,248,224, 213 basesExon 20: 69,249,375–69,249,485, 111 basesExon 21: 69,251,035–69,251,364, 330 basesExon 22: 69,252,815–69,252,900, 86 basesExon 23: 69,254,209–69,255,208, 1,000 bases15101520235′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 4.5 kb of the gene's 80.9 kb; 3,573 of those bases code for the protein.

How a genome test reads TJP2

41

positions in TJP2 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 80.9 kb of TJP2, introns included, not only the 4.5 kb of exons.

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.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • 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.). TJP2 gene: tight junction protein 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/tjp2

Vancouver

Dante Labs. TJP2 gene: tight junction protein 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tjp2

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