PAX8
Summary: This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| paired box 8 | MIM:167415 | Ensembl:ENSG00000125618 | HGNC:HGNC:8622 | PA32962 | 2q14.1 |
Gene Categories:
G PROTEIN COUPLED RECEPTORGO terms in PAX8
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IEA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IMP | GO:0003677 | DNA binding |
| MF | IDA | GO:0003700 | DNA-binding transcription factor activity |
| MF | TAS | GO:0004996 | thyroid-stimulating hormone receptor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0044212 | transcription regulatory region DNA binding |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | ISS | GO:0005654 | nucleoplasm |
| BP | ISS | GO:0001655 | urogenital system development |
| BP | IEP | GO:0001658 | branching involved in ureteric bud morphogenesis |
| BP | IEP | GO:0001822 | kidney development |
| BP | ISS | GO:0001823 | mesonephros development |
| BP | IEA | GO:0003281 | ventricular septum development |
| BP | IEP | GO:0003337 | mesenchymal to epithelial transition involved in metanephros morphogenesis |
| BP | IDA | GO:0006351 | transcription, DNA-templated |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IEA | GO:0006790 | sulfur compound metabolic process |
| BP | IEP | GO:0007417 | central nervous system development |
| BP | TAS | GO:0009653 | anatomical structure morphogenesis |
| BP | IEA | GO:0010667 | negative regulation of cardiac muscle cell apoptotic process |
| BP | IEP | GO:0030878 | thyroid gland development |
| BP | IMP | GO:0030878 | thyroid gland development |
| BP | IEA | GO:0038194 | thyroid-stimulating hormone signaling pathway |
| BP | ISS | GO:0039003 | pronephric field specification |
| BP | ISS | GO:0042472 | inner ear morphogenesis |
| BP | ISS | GO:0042981 | regulation of apoptotic process |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | ISS | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0048793 | pronephros development |
| BP | IDA | GO:0071371 | cellular response to gonadotropin stimulus |
| BP | IEP | GO:0071599 | otic vesicle development |
| BP | ISS | GO:0072108 | positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis |
| BP | IEP | GO:0072207 | metanephric epithelium development |
| BP | ISS | GO:0072221 | metanephric distal convoluted tubule development |
| BP | IEP | GO:0072278 | metanephric comma-shaped body morphogenesis |
| BP | IEP | GO:0072284 | metanephric S-shaped body morphogenesis |
| BP | ISS | GO:0072289 | metanephric nephron tubule formation |
| BP | ISS | GO:0072305 | negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis |
| BP | ISS | GO:0072307 | regulation of metanephric nephron tubule epithelial cell differentiation |
| BP | ISS | GO:0090190 | positive regulation of branching involved in ureteric bud morphogenesis |
| BP | ISS | GO:1900212 | negative regulation of mesenchymal cell apoptotic process involved in metanephros development |
| BP | ISS | GO:1900215 | negative regulation of apoptotic process involved in metanephric collecting duct development |
| BP | ISS | GO:1900218 | negative regulation of apoptotic process involved in metanephric nephron tubule development |
| BP | ISS | GO:2000594 | positive regulation of metanephric DCT cell differentiation |
| BP | IMP | GO:2000611 | positive regulation of thyroid hormone generation |
| BP | IMP | GO:2000612 | regulation of thyroid-stimulating hormone secretion |
Gene expression in normal tissue: PAX8
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PAX8
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04918 | Thyroid hormone synthesis - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05216 | Thyroid cancer - Homo sapiens (human) |
| wikipathways | WP2032 | Human Thyroid Stimulating Hormone (TSH) signaling pathway |
| wikipathways | WP53 | ID signaling pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD513 | BML-259 | 3 |
| iGMDRD23 | Gossypol | 3 |
| iGMDRD60 | Quinoclamine | 3 |
| iGMDRD64 | Parbendazole | 3 |
| iGMDRD640 | CAY10618 | 3 |
| iGMDRD188 | Piperlongumine | 3 |
| iGMDRD887 | Compound 23 citrate | 3 |
| iGMDRD144 | NSC95397 | 3 |
| iGMDRD546 | BMS-754807 | 2 |
| iGMDRD1008 | SR-II-138A | 3 |
| iGMDRD151 | CHM-1 | 1 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD679 | Bistramide A | 1 |
| iGMDRD639 | YK 4-279 | 3 |
| iGMDRD193 | Fqi1 | 1 |
| iGMDRD446 | LY 2183240 | 1 |
| iGMDRD481 | Dactolisib | 3 |
| iGMDRD267 | Oligomycin A | 4 |
| iGMDRD705 | Nakiterpiosin | 3 |
| iGMDRD105 | Triptolide | 5 |
| iGMDRD6 | AM-580 | 3 |
| iGMDRD103 | SN-38 | 6 |
| iGMDRD202 | Curcumin | 6 |
| iGMDRD82 | Quiflapon | 1 |
| iGMDRD505 | Pevonedistat | 4 |
| iGMDRD366 | PI-103 | 6 |
| iGMDRD414 | MST-312 | 3 |
| iGMDRD871 | BRD6368 | 3 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD405 | PIK-75 | 3 |
| iGMDRD701 | NVP-AUY922 | 3 |
| iGMDRD486 | Tosedostat | 4 |
| iGMDRD123 | Isoevodiamine | 1 |
| iGMDRD351 | GW843682X | 6 |
| iGMDRD698 | Neratinib | 4 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PAX8
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.