Gene entry
TJP2
tight junction protein 2
- Chromosome
- 9
- Cytoband
- 9q21.11
- Variants (rsID)
- 44
TJP2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q21.11). Its official name is “tight junction protein 2”. The reference table lists 44 variants (rsID) for this gene.
Clinically classified variants
17 reference-table entries with clinical significance.
- rs2309428Benignsingle nucleotide variantHypercholanemia, familial 1|Cholestasis, progressive familial intrahepatic, 4
- rs28556975Benignsingle nucleotide variant
- rs34774441Benignsingle nucleotide variant
- rs41305539Benignsingle nucleotide variant
- rs4493966Benignsingle nucleotide variant
- rs77236826Benignsingle nucleotide variant
- rs78681604Benignsingle nucleotide variant
- rs138241615Conflicting interpretationssingle nucleotide variantHypercholanemia, familial 1|Cholestasis, progressive familial intrahepatic, 4
- rs144396411Conflicting interpretationssingle nucleotide variant
- rs149911553Conflicting interpretationssingle nucleotide variant
- rs200384355Conflicting interpretationssingle nucleotide variant
- rs75450131Conflicting interpretationssingle nucleotide variant
- rs369322645Likely benignsingle nucleotide variant
- rs587777518PathogenicDeletionCholestasis, progressive familial intrahepatic, 4
- rs144429323Uncertain significancesingle nucleotide variant
- rs145368713Uncertain significancesingle nucleotide variant
- rs146761713Uncertain significancesingle nucleotide variant
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.