TJP2 Gene Summary [Human]
This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Details
| Type | Protein Coding |
| Official Symbol | TJP2 |
| Official Name | tight junction protein 2 [Source:HGNC Symbol;Acc:HGNC:11828] |
| Ensembl ID | ENSG00000119139 |
| Bio databases IDs | |
| Aliases | tight junction protein 2, Friedreich ataxia region gene X104 (tight junction protein ZO-2), zona occludens 2 |
| Synonyms | C9DUPq21.11, DFNA51, DUP9q21.11, FHCA1, LOC108349129, PFIC4, tight junction protein 2, X104, ZO-2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TJP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- protein kinase binding
- protein binding activity, bridging
- canonical PDZ domain
- protein domain specific binding
- protein binding
- enzyme
- PDZ domain
- proline rich domain
- Src Homology 3 domain superfamily
- kinase
- guanylate kinase
- NK
- ion channel binding
- cpPDZ_Deg_HtrA-like
- PDZ binding motif
Pathways
Biological processes and signaling networks where the TJP2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- metastasis
- headache
- progressive familial intrahepatic cholestasis type 4
- refractive error
- early onset hypertension
- hepatocellular carcinoma
- liver cancer
- familial hypercholanemia type 1
role in cell
- expression in
- activation in
- proliferation
- apoptosis
- formation
- migration
- invasion by
- development
- stabilization
- architecture
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- soluble fraction
- cell junction
- Cytoplasm
- cell surface
- perinuclear region
- cellular membrane
- Nucleus
- intercellular junctions
- cell-cell contacts
- cytosol
- apical cell surfaces
- nucleoplasm
- paranodal loops
- Schmidt-Lanterman incisures
- intercalated disks
- gap junctions
- tight junctions
- apical cell-cell contacts
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TJP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- intestinal absorption
- GDP metabolic process
- GMP metabolic process
- homotypic cell-cell adhesion
- maintenance of blood-brain barrier
- cell-cell junction organization
Cellular Component
Where in the cell the gene product is active
- cell-cell contact zone
- nucleus
- adherens junction
- tight junction
- cytosol
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- protein binding
- cadherin binding
- cell adhesion molecule binding
- guanylate kinase activity
- ion channel binding
- protein binding, bridging