TJP2

Chr 9q21.11

tight junction protein 2

Aliases:: ZO-2, X104, ZO2
MANE:: ENST00000377245.9

OMIM: 607709 ↗NCBI: 9414 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TJP2 · Q9UDY2

v62025-08-01

Predicted Aligned Error matrix for TJP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.0/ 100

Low

1,190 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)18%
Low(50–70)7%
Very low(< 50)47%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cholestasis
BIALLELIC, autosomal or pseudoautosomal
Neonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

cholestasis, progressive familial intrahepatic, 4
0.80
hypercholanemia, familial 1
0.65
autosomal dominant nonsyndromic hearing loss
0.56
progressive familial intrahepatic cholestasis type 2
0.53
deafness
0.47
refractive error
0.44
hereditary disease
0.42
hypercholanemia, familial
0.37
myopia
0.37
autosomal recessive nonsyndromic hearing loss 4
0.36

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tight junction protein 2

Plays a role in tight junctions and adherens junctions (By similarity). Acts as a positive regulator of RANKL-induced osteoclast differentiation, potentially via mediating downstream transcriptional activity (By similarity)