Hot Results
- Quick Search
- Large-scale studies
- Genome-wide Association Studies of ADHD
- Genome-wide Linkage Studies of ADHD
- Genome-wide CNV Analyses of ADHD
- Meta-analysis Studies of ADHD
- Data Summary
KEGG Pathway Report
Basic Info
| ID | hsa04530 |
|---|---|
| Name | Tight junction |
| Description | Epithelial tight junctions (TJs) are composed of at least three types of transmembrane protein -occludin, claudin and junctional adhesion molecules (JAMs)- and a cytoplasmic 'plaque' consisting of many different proteins that form large complexes. The transmembrane proteins mediate cell adhesion and are thought to constitute the intramembrane and paracellular diffusion barriers. The cytoplasmic 'plaque' contains three major multi-protein complexes consisting largely of scaffolding proteins, the ZO protein complex, the CRB3-Pals1-PATJ complex and the PAR-3-aPKC-PAR-6 complex. The ZO protein complex appears to organize the transmembrane proteins and couple them to other cytoplasmic proteins and to actin microfilaments. Two evolutionarily conserved protein complexes, the CRB3 and PAR complexes are involved in the establishment and maintenance of epithelial cell polarity. Besides these three protein complexes which seem to be constitutively associated at TJs, a number of proteins with different functions has been identified at TJs. These include additional scaffolding proteins like MUPP1 and MAGI-1, adaptor proteins, transcription regulators and RNA processing factors, regulatory proteins like small GTPases and G-proteins, kinases and phosphatases, and heat shock proteins. These are proposed to be involved in junction assembly, barrier regulation, gene transcription, and perhaps other, presently undefined pathways. |
| No. of Genes in ADHDgene | 18 |
| Source | Pathway by Database Search |
Pathway related genes in ADHDgene (count: 18)
Literature-origin genes (count: 3)
| Approved Symbol | Approved Name | Location | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| PPP2R2C | protein phosphatase 2, regulatory subunit B, gamma | 4p16.1 | 1(1/0/0) |
| MAGI2 | membrane associated guanylate kinase, WW and PDZ domain containing 2 | 7q21 | 1(0/0/1) |
| CTNNA2 | catenin (cadherin-associated protein), alpha 2 | 2p12-p11.1 | 2(1/1/0) |
Genes from other sources (count: 15)
| Approved Symbol | Approved Name | Location | Source |
|---|---|---|---|
| YES1 | v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 | 18p11.31-p11.21 | Mapped by CNV |
| PRKCB | protein kinase C, beta | 16p12 | Mapped by significant region |
| ACTN3 | actinin, alpha 3 | 11q13-q14 | Mapped by significant region |
| CLDN5 | claudin 5 | 22q11.21 | Mapped by CNV |
| LLGL1 | lethal giant larvae homolog 1 (Drosophila) | 17p11.2 | Mapped by significant region |
| JAM3 | junctional adhesion molecule 3 | 11q25 | Mapped by significant region |
| EPB41L2 | erythrocyte membrane protein band 4.1-like 2 | 6q23 | Mapped by significant region |
| MYH11 | myosin, heavy chain 11, smooth muscle | 16p13.11 | Mapped by CNV; Mapped by significant region |
| PPP2R1B | protein phosphatase 2, regulatory subunit A, beta | 11q23.1 | Mapped by significant region |
| MYLPF | myosin light chain, phosphorylatable, fast skeletal muscle | 16p11.2 | Mapped by CNV |
| TJP1 | tight junction protein 1 (zona occludens 1) | 15q13 | Mapped by CNV; Mapped by significant region |
| CTNNA3 | catenin (cadherin-associated protein), alpha 3 | 10q21 | Mapped by CNV |
| PPP2R2D | protein phosphatase 2, regulatory subunit B, delta | 10q26.3 | Mapped by CNV |
| AMOTL1 | angiomotin like 1 | 11q21 | Mapped by significant region |
| CTTN | cortactin | 11q13 | Mapped by significant region |