MAF
Summary: The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| MAF bZIP transcription factor | MIM:177075 | Ensembl:ENSG00000178573 | HGNC:HGNC:6776 | PA30534 | 16q23.2 |
GO terms in MAF
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| 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:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0043565 | sequence-specific DNA binding |
| CC | TAS | GO:0000785 | chromatin |
| CC | IEA | GO:0005634 | nucleus |
| CC | IEA | GO:0005737 | cytoplasm |
| BP | IEA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001816 | cytokine production |
| BP | TAS | GO:0006366 | transcription by RNA polymerase II |
| BP | IEA | GO:0032330 | regulation of chondrocyte differentiation |
| BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0048468 | cell development |
| BP | IEA | GO:0048839 | inner ear development |
| BP | IBA | GO:0070306 | lens fiber cell differentiation |
Gene expression in normal tissue: MAF
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MAF
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP3 | Transcriptional activation by NRF2 |
| wikipathways | WP3945 | TYROBP Causal Network |
| pid | ap1_pathway | AP-1 transcription factor network |
| pid | cmyb_pathway | C-MYB transcription factor network |
| pid | nfat_tfpathway | Calcineurin-regulated NFAT-dependent transcription in lymphocytes |
| kegg | hsa04658 | Th1 and Th2 cell differentiation - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05321 | Inflammatory bowel disease (IBD) - Homo sapiens (human) |
| pharmgkb | PA165985892 | Tacrolimus/Cyclosporine Pathway, Pharmacodynamics |
| biocarta | gata3pathway | gata3 participate in activating the th2 cytokine genes expression |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8940973 | RUNX2 regulates osteoblast differentiation |
| reactome | R-HSA-8941326 | RUNX2 regulates bone development |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD137 | Indisulam | 2 |
| iGMDRD484 | Pluripotin | 3 |
| iGMDRD23 | Gossypol | 3 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD297 | Austocystin D | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MAF
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