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KEGG Pathway Report
Basic Info
| ID | hsa05016 |
|---|---|
| Name | Huntington's disease |
| Description | Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. In the cytoplasm, full-length mHtt can interfere with BDNF vesicular transport on microtubules. This mutant protein also may lead to abnormal endocytosis and secretion in neurons, because normal Htt form a complex with the proteins Hip1, clathrin and AP2 that are involved in endocytosis. In addition, mHtt affects Ca2+ signaling by sensitizing InsP3R1 to activation by InsP3, stimulating NMDAR activity, and destabilizing mitochondrial Ca2+ handling. The mHtt translocates to the nucleus, where it forms intranuclear inclusions. Nuclear toxicity is believed to be caused by interference with gene transcription, leading to loss of transcription of neuroprotective molecules such as BDNF. While mHtt binds to p53 and upregulates levels of nuclear p53 as well as p53 transcriptional activity. Augmented p53 mediates mitochondrial dysfunction. |
| No. of Genes in ADHDgene | 28 |
| Source | Pathway by Database Search |
Pathway related genes in ADHDgene (count: 28)
Literature-origin genes (count: 6)
| Approved Symbol | Approved Name | Location | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| GRM5 | glutamate receptor, metabotropic 5 | 11q14.3 | 2(1/0/1) |
| GRIN2B | glutamate receptor, ionotropic, N-methyl D-aspartate 2B | 12p12 | 1(1/0/0) |
| BDNF | brain-derived neurotrophic factor | 11p14.1 | 14(8/6/0) |
| COX7B2 | cytochrome c oxidase subunit VIIb2 | 4p12 | 1(0/1/0) |
| GRM1 | glutamate receptor, metabotropic 1 | 6q24 | 1(1/0/0) |
| CREB5 | cAMP responsive element binding protein 5 | 7p15 | 1(0/0/1) |
Genes from other sources (count: 22)
| Approved Symbol | Approved Name | Location | Source |
|---|---|---|---|
| COX8A | cytochrome c oxidase subunit VIIIA (ubiquitous) | 11q12-q13 | Mapped by significant region |
| ITPR1 | inositol 1,4,5-trisphosphate receptor, type 1 | 3p26.1 | Mapped by CNV |
| TAF4B | TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa | 18q11.1 | Mapped by significant region |
| PLCB2 | phospholipase C, beta 2 | 15q15 | Mapped by PBA pathway |
| CYCS | cytochrome c, somatic | 7p21.2 | Mapped by CNV; Mapped by significant region |
| COX4I1 | cytochrome c oxidase subunit IV isoform 1 | 16q24.1 | Mapped by significant region |
| NDUFA4L2 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 | 12q13.3 | Mapped by CNV |
| NDUFA5 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa | 7q31.33 | Mapped by CNV |
| UQCRC2 | ubiquinol-cytochrome c reductase core protein II | 16p12 | Mapped by CNV; Mapped by significant region |
| POLR2G | polymerase (RNA) II (DNA directed) polypeptide G | 11q13.1 | Mapped by significant region |
| CLTCL1 | clathrin, heavy chain-like 1 | 22q11.2 | Mapped by CNV |
| NDUFS3 | NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) | 11p11.11 | Mapped by LD-proxy |
| NDUFV1 | NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa | 11q13 | Mapped by significant region |
| NDUFS8 | NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) | 11q13.2 | Mapped by significant region |
| SDHD | succinate dehydrogenase complex, subunit D, integral membrane protein | 11q23 | Mapped by significant region |
| TBPL1 | TBP-like 1 | 6q22.1-q22.3 | Mapped by significant region |
| DNAH3 | dynein, axonemal, heavy chain 3 | 16p12.2 | Mapped by significant region |
| NDUFAB1 | NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa | 16p12.3 | Mapped by significant region |
| NDUFC2 | NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa | 11q14.1 | Mapped by significant region |
| NDUFA8 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa | 9q33.2 | Mapped by significant region |
| DNAI2 | dynein, axonemal, intermediate chain 2 | 17q25 | Mapped by CNV |
| PLCB3 | phospholipase C, beta 3 (phosphatidylinositol-specific) | 11q13 | Mapped by significant region |