MAFA Gene
MAF BZIP Transcription Factor A
Gene Information Card
| Symbol | MAFA |
|---|---|
| Full Name | MAF bZIP transcription factor A |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 389692 ncbi.nlm.nih.gov/gene/389692 |
| Ensembl ID | ENSG00000182759 |
| UniProt ID | Q8NHW3 |
| OMIM ID | 610303 |
| HGNC ID | 23145 |
| Aliases | hMAF, RIPE3b1, MGC138428 |
Description
MAFA encodes a basic leucine zipper (bZIP) transcription factor that binds to the insulin gene enhancer and is critical for pancreatic beta-cell function and glucose-responsive insulin secretion. It is a member of the MAF family and plays a key role in beta-cell maturation and maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Maturity-Onset Diabetes of the Young (MODY) | Loss-of-function mutations impair insulin gene transcription, leading to beta-cell dysfunction. | PMID: 24784834, ClinVar |
| Type 2 Diabetes | Reduced MAFA expression or activity contributes to beta-cell failure. | PMID: 21873549, NCBI Gene |
| Insulinoma | MAFA overexpression may drive insulin production in tumors. | PMID: 20086238, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 48.2 | High |
| Islets of Langerhans | 120.5 | Very High |
| Liver | 0.3 | Not detected |
| Kidney | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| INS-1 (rat beta-cell) | - | High expression; used in insulin regulation studies |
| MIN6 (mouse beta-cell) | - | High expression; glucose-responsive |
| HeLa | 0.1 | Very low/not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.908C>T (p.Ser303Phe) | Missense | Rare | Reduced transactivation activity; associated with MODY |
| c.778C>T (p.Arg260Cys) | Missense | Rare | Impaired DNA binding; beta-cell dysfunction |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the DNA-binding or transactivation domain reduce or abolish transcriptional activity.
Gain of Function (GOF)
Not well documented; overexpression in insulinoma may represent a gain-of-function effect.
Dominant Negative (DN)
Some MAFA mutants may interfere with wild-type MAFA or other MAF family members.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Insulin secretion (Reactome: R-HSA-422085)
• Regulation of beta-cell development (KEGG: hsa04940)
Protein Summary
MAFA is a 353-amino-acid protein containing a bZIP domain that mediates dimerization and DNA binding. It binds to the insulin gene promoter and activates transcription in response to glucose. It is essential for maintaining mature beta-cell identity and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAFA Knockout HEK293 Cell Line | EDJ-KQ11989 | Human | 389692 | Details Get a Quote |
| MAFA Knockout HeLa Cell Line | EDJ-KQ60099 | Human | 389692 | Details Get a Quote |
| MAFA Knockout A-549 Cell Line | EDJ-KQ68561 | Human | 389692 | Details Get a Quote |
| MAFA Knockout HCT 116 Cell Line | EDJ-KQ76937 | Human | 389692 | Details Get a Quote |
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