MAF Gene (MAF BZIP Transcription Factor)
Key regulator of lens development and immune function, implicated in multiple myeloma and congenital cataracts.
Gene Information Card
| Symbol | MAF |
|---|---|
| Full Name | MAF bZIP transcription factor |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.2 |
| NCBI Gene ID | 4094 ncbi.nlm.nih.gov/gene/4094 |
| Ensembl ID | ENSG00000178573 |
| UniProt ID | O75444 |
| OMIM ID | 177075 |
| HGNC ID | 6776 |
| Aliases | c-MAF, MGC71685, MGC111226 |
Description
The MAF gene encodes a basic leucine zipper (bZIP) transcription factor that binds to MAF recognition elements (MAREs) to regulate gene expression. It is essential for lens development, where it activates crystallin genes, and for immune function, particularly in T-helper cell differentiation and plasma cell survival. Dysregulation of MAF is associated with multiple myeloma, congenital cataracts, and Aymé-Gripp syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple Myeloma | MAF translocations (e.g., t(14;16)) lead to overexpression, driving plasma cell proliferation and survival. | PMID: 12406866, COSMIC |
| Congenital Cataracts | Heterozygous missense mutations in MAF disrupt lens development, causing autosomal dominant pulverulent cataracts. | PMID: 11971868, ClinVar |
| Aymé-Gripp Syndrome | De novo heterozygous mutations in MAF cause a multisystem disorder with cataracts, hearing loss, and intellectual disability. | PMID: 26026792, OMIM #601088 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lens | High | Tissue-specific high expression |
| Placenta | Moderate | GTEx |
| Testis | Moderate | GTEx |
| Spleen | Low | GTEx |
| Bone Marrow | Low | GTEx |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 0.3 | Low expression |
| HeLa | 0.1 | Very low expression |
| HepG2 | 0.2 | Low expression |
| MM.1S (multiple myeloma) | High | Overexpressed due to translocation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.176A>G (p.Asn59Ser) | Missense | Rare | Dominant negative; associated with congenital cataracts (ClinVar) |
| c.208C>T (p.Arg70Trp) | Missense | Rare | Dominant negative; associated with Aymé-Gripp syndrome (ClinVar) |
| t(14;16)(q32;q23) | Translocation | ~5% in multiple myeloma | Gain-of-function; MAF overexpression (COSMIC) |
| c.770G>A (p.Arg257Gln) | Missense | Rare | Likely pathogenic; cataract (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; most pathogenic mutations are dominant negative or gain-of-function.
Gain of Function (GOF)
Translocations in multiple myeloma cause MAF overexpression, promoting oncogenesis.
Dominant Negative (DN)
Missense mutations in the DNA-binding domain (e.g., p.Asn59Ser, p.Arg70Trp) disrupt normal MAF function, leading to cataracts and Aymé-Gripp syndrome.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Th17 cell differentiation (KEGG hsa04659)
• Transcriptional misregulation in cancer (KEGG hsa05202)
• Signaling pathways regulating pluripotency of stem cells (KEGG hsa04550)
Protein Summary
The MAF protein (c-MAF) is a 403-amino acid transcription factor containing a bZIP domain that mediates dimerization and DNA binding. It forms homodimers or heterodimers with other bZIP factors (e.g., FOS, JUN) to regulate target genes involved in lens crystallin production, immune cell differentiation, and cell cycle control. In multiple myeloma, MAF overexpression drives oncogenic transcriptional programs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAF1 Knockout HEK293 Cell Line | EDJ-KQ3083 | Human | 84232 | Details Get a Quote |
| MAFB Knockout HEK293 Cell Line | EDJ-KQ3355 | Human | 9935 | Details Get a Quote |
| MAF Knockout HEK293 Cell Line | EDJ-KQ3593 | Human | 4094 | Details Get a Quote |
| MAFK Knockout HEK293 Cell Line | EDJ-KQ3807 | Human | 7975 | Details Get a Quote |
| MAFA Knockout HEK293 Cell Line | EDJ-KQ11989 | Human | 389692 | Details Get a Quote |
| MAFB Knockout HeLa Cell Line | EDJ-KQ25012 | Human | 9935 | Details Get a Quote |
| MAFK Knockout A-549 Cell Line | EDJ-KQ25931 | Human | 7975 | Details Get a Quote |
| MAFK Knockout HCT 116 Cell Line | EDJ-KQ25932 | Human | 7975 | Details Get a Quote |
| MAFK Knockout HeLa Cell Line | EDJ-KQ25933 | Human | 7975 | Details Get a Quote |
| MAF1 Knockout A-549 Cell Line | EDJ-KQ24384 | Human | 84232 | Details Get a Quote |
| MAF1 Knockout HCT 116 Cell Line | EDJ-KQ24385 | Human | 84232 | Details Get a Quote |
| MAF1 Knockout HeLa Cell Line | EDJ-KQ24386 | Human | 84232 | Details Get a Quote |
| MAFG Knockout HEK293 Cell Line | EDJ-KQ50425 | Human | 4097 | Details Get a Quote |
| MAFF Knockout HEK293 Cell Line | EDJ-KQ51129 | Human | 23764 | Details Get a Quote |
| MAF Knockout HeLa Cell Line | EDJ-KQ53822 | Human | 4094 | Details Get a Quote |
