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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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MAFB
MAF bZIP transcription factor B
Chromosome 20 Β· 20q12
NCBI Gene: 9935Ensembl: ENSG00000204103.4HGNC: HGNC:6408UniProt: Q9Y5Q3
117PubMed Papers
22Diseases
0Drugs
25Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription FactorTumor Suppressor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
identical protein bindingprotein bindingnucleusnegative regulation of erythrocyte differentiationmulticentric carpo-tarsal osteolysis with or without nephropathyDuane retraction syndromeDuane retraction syndrome 3 with or without deafnessDupuytren Contracture
✦AI Summary

MAFB is a bZIP transcription factor that functions as both an activator and repressor of gene expression 1. Its primary role involves regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid genes in myeloid cells, and it is essential for monocytic, macrophage, osteoclast, podocyte, and islet beta cell differentiation. MAFB activates insulin and glucagon promoters and cooperates with PAX6 to regulate glucagon gene expression 2. The transcription factor controls macrophage polarization, with MAFB+ macrophages displaying antiinflammatory and immunosuppressive properties 2. SUMO modification regulates MAFB's transcriptional activity and macrophage fate specification 3. Clinically, MAFB dysregulation associates with multiple disease contexts. In multiple myeloma, MAFB translocations (20q11) drive malignant progression alongside other pathogenic alterations 4. MAFB upregulation correlates with moderate-to-high disease activity in rheumatoid arthritis 5 and severe COVID-19, where it controls expression of profibrotic and neutrophil-attracting factors 2. MAFB-high microglia promote remyelination in demyelinating diseases like multiple sclerosis and support recovery after ischemic stroke 36. MAFB also functions as a candidate regulator in Alzheimer's disease-specific transcriptional changes within microglia 7. Additionally, MAFB is upregulated in monocyte/macrophages of chr20 obstructive pulmonary disease patients 8.

Sources cited
1
MAFB acts as a transcriptional activator or repressor
PMID: 27181683
2
MAFB regulates monocyte-derived macrophage response to SARS-CoV-2, controls severe COVID-19 pathogenic macrophage transcriptome and biomarker expression
PMID: 37917179
3
MAFB is the transcription factor regulating reparative macrophage phenotype and promotes post-stroke recovery
PMID: 40164598
4
MAFB translocations at 20q11 are associated with multiple myeloma pathogenesis
PMID: 38199896
5
MAFB is upregulated in moderate-high disease activity rheumatoid arthritis
PMID: 38954480
6
MAFB-high microglia are essential for myelin repair and remyelination in demyelinating diseases
PMID: 40131948
7
MAFB is a candidate transcription factor regulating AD-specific gene expression in microglia
PMID: 36950385
8
MAFB is upregulated in monocyte/macrophages of COPD patients
PMID: 39810158
Disease Associationsβ“˜22
multicentric carpo-tarsal osteolysis with or without nephropathyOpen Targets
0.81Strong
Duane retraction syndromeOpen Targets
0.66Moderate
Duane retraction syndrome 3 with or without deafnessOpen Targets
0.64Moderate
Dupuytren ContractureOpen Targets
0.52Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
Palmar FibromatosisOpen Targets
0.48Moderate
hyperparathyroidismOpen Targets
0.45Moderate
parathyroid diseaseOpen Targets
0.45Moderate
fasciitisOpen Targets
0.44Moderate
fibroblastic disorderOpen Targets
0.43Moderate
HypercholesterolemiaOpen Targets
0.43Moderate
HypercalcemiaOpen Targets
0.42Moderate
lumbar disc herniationOpen Targets
0.39Weak
alcohol drinkingOpen Targets
0.38Weak
hyperlipidemiaOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
metabolic diseaseOpen Targets
0.35Weak
genetic disorderOpen Targets
0.34Weak
breast carcinomaOpen Targets
0.32Weak
Duane retraction syndrome 3 with or without deafnessUniProt
Multicentric carpotarsal osteolysis syndromeUniProt
Pathogenic Variants25
NM_005461.5(MAFB):c.176C>T (p.Pro59Leu)Pathogenic
not provided|Multicentric carpo-tarsal osteolysis with or without nephropathy;Duane retraction syndrome 3 with or without deafness
β˜…β˜…β˜†β˜†2025β†’ Residue 59
NM_005461.5(MAFB):c.209C>T (p.Ser70Leu)Pathogenic
Multicentric carpo-tarsal osteolysis with or without nephropathy|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 70
NM_005461.5(MAFB):c.206C>T (p.Ser69Leu)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 69
NM_005461.5(MAFB):c.188C>T (p.Pro63Leu)Pathogenic
MAFB-related disorder|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 63
NM_005461.5(MAFB):c.161C>T (p.Ser54Leu)Pathogenic
Multicentric carpo-tarsal osteolysis with or without nephropathy|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 54
NM_005461.5(MAFB):c.184A>G (p.Thr62Ala)Pathogenic
Multicentric carpo-tarsal osteolysis with or without nephropathy
β˜…β˜…β˜†β˜†2020β†’ Residue 62
NM_005461.5(MAFB):c.509C>A (p.Ser170Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 170
NM_005461.5(MAFB):c.781C>T (p.Gln261Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 261
NM_005461.5(MAFB):c.745C>G (p.Arg249Gly)Likely pathogenic
MAFB-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 249
NM_005461.5(MAFB):c.11A>G (p.Glu4Gly)Likely pathogenic
Orofacial cleft 1
β˜…β˜†β˜†β˜†2022β†’ Residue 4
NM_005461.5(MAFB):c.187C>T (p.Pro63Ser)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 63
NM_005461.5(MAFB):c.176C>G (p.Pro59Arg)Likely pathogenic
Multicentric carpo-tarsal osteolysis with or without nephropathy
β˜…β˜†β˜†β˜†2022β†’ Residue 59
NM_005461.5(MAFB):c.212C>T (p.Pro71Leu)Pathogenic
Multicentric carpo-tarsal osteolysis with or without nephropathy
β˜…β˜†β˜†β˜†2020β†’ Residue 71
NM_005461.5(MAFB):c.185C>T (p.Thr62Ile)Pathogenic
Multicentric carpo-tarsal osteolysis with or without nephropathy
β˜…β˜†β˜†β˜†2019β†’ Residue 62
NM_005461.5(MAFB):c.173C>G (p.Thr58Arg)Likely pathogenic
Carpal osteolysis|Multicentric carpo-tarsal osteolysis with or without nephropathy
β˜…β˜†β˜†β˜†2018β†’ Residue 58
NM_005461.5(MAFB):c.197C>T (p.Ser66Phe)Likely pathogenic
Multicentric carpo-tarsal osteolysis with or without nephropathy
β˜…β˜†β˜†β˜†2018β†’ Residue 66
NM_005461.5(MAFB):c.135del (p.Cys46fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 46
NM_005461.5(MAFB):c.440del (p.Gly147fs)Pathogenic
Duane syndrome type 1;Duane retraction syndrome 2|Duane retraction syndrome 3 with or without deafness
β˜…β˜†β˜†β˜†2016β†’ Residue 147
NC_000020.11:g.(?_40687489)_(40688460_?)delPathogenic
Duane syndrome type 1;Duane retraction syndrome 2|Duane retraction syndrome 3 with or without deafness
β˜…β˜†β˜†β˜†2016
NM_005461.5(MAFB):c.803del (p.Asn268fs)Pathogenic
Duane syndrome type 1;Duane retraction syndrome 2|Duane retraction syndrome 3 with or without deafness
β˜…β˜†β˜†β˜†2016β†’ Residue 268
View on ClinVar β†—
Related Genes
NCOA6Protein interaction100%ETS1Protein interaction98%MAFProtein interaction98%CTCFProtein interaction86%NKX6-1Protein interaction81%IRF6Protein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
29%
Lung
29%
Heart
11%
Brain
9%
Ovary
7%
Gene Interaction Network
Click a node to explore
MAFBNCOA6ETS1MAFCTCFNKX6-1IRF6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y5Q3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.47Moderately Constrained
pLIβ“˜
0.98Intolerant
Observed/Expected LoF0.18 [0.08–0.47]
RankingsWhere MAFB stands among ~20K protein-coding genes
  • #4,049of 20,598
    Most Researched117 Β· top quartile
  • #1,977of 5,498
    Most Pathogenic Variants25
  • #2,688of 17,882
    Most Constrained (LOEUF)0.47 Β· top quartile
Genes detectedMAFB
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Single-cell RNA-Seq analysis reveals cell subsets and gene signatures associated with rheumatoid arthritis disease activity.
PMID: 38954480
JCI Insight Β· 2024
1.00
2
Molecular Pathogenesis of Multiple Myeloma: Clinical Implications.
PMID: 38199896
Hematol Oncol Clin North Am Β· 2024
0.90
3
Repair-associated macrophages increase after early-phase microglia attenuation to promote ischemic stroke recovery.
PMID: 40164598
Nat Commun Β· 2025
0.80
4
MAFB shapes human monocyte-derived macrophage response to SARS-CoV-2 and controls severe COVID-19 biomarker expression.
PMID: 37917179
JCI Insight Β· 2023
0.70
5
Single nucleus multiomics identifies ZEB1 and MAFB as candidate regulators of Alzheimer's disease-specific
PMID: 36950385
Cell Genom Β· 2023
0.60