MAFB Gene

Name	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
Description	The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n MAFB is a multifunctional transcription factor whose activity is critical in diverse physiological processes and disease settings. In the cardiovascular context, genome‐wide association studies have implicated common variants near MAFB in modulating low‐density lipoprotein cholesterol levels and overall lipoprotein profiles."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In hematopoietic and immune cells, MAFB functions to promote terminal differentiation of monocytes and macrophages while restricting unscheduled self‐renewal, thereby influencing lineage commitment and the balance between macrophage and dendritic cell fates."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "2", "end_ref": "4"}]}, {"type": "t", "text": " In the skeletal system, MAFB acts as a negative regulator of receptor activator of nuclear factor‑κB ligand (RANKL)–induced osteoclastogenesis, a function further underscored by its targeting by miR‑148a and its mutation in multicentric carpotarsal osteolysis, thereby contributing to bone homeostasis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "7"}]}, {"type": "t", "text": " Moreover, during pancreatic development and in adult islets, MAFB regulates endocrine cell differentiation and function; its expression in human β cells (in contrast to the predominantly α‐cell–restricted expression seen in rodents) and its loss under conditions of oxidative stress or altered transcriptional control contribute to impaired insulin production and cell identity."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "11"}]}, {"type": "t", "text": " In addition, oncogenic translocations involving MAFB, together with related factors such as c‑MAF, have been identified in a subset of multiple myeloma cases, while specific variants near the MAFB gene also associate with differential responses to anti‑TNF therapy in rheumatoid arthritis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "12", "end_ref": "14"}]}, {"type": "t", "text": " Finally, MAFB plays a developmental role in craniofacial and respiratory systems; it is required for normal palatal development and for the proper formation of neurons within the preBötzinger complex that are essential for respiratory rhythm generation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "15"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sekar Kathiresan, Cristen J Willer, Gina M Peloso, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variants at 30 loci contribute to polygenic dyslipidemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.291"}], "href": "https://doi.org/10.1038/ng.291"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19060906"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19060906"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Athar Aziz, Erinn Soucie, Sandrine Sarrazin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MafB/c-Maf deficiency enables self-renewal of differentiated functional macrophages."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1176056"}], "href": "https://doi.org/10.1126/science.1176056"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19892988"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19892988"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Youssef Bakri, Sandrine Sarrazin, Ulrich P Mayer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Balance of MafB and PU.1 specifies alternative macrophage or dendritic cell fate."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2004-04-1448"}], "href": "https://doi.org/10.1182/blood-2004-04-1448"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15598817"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15598817"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Sandrine Sarrazin, Noushine Mossadegh-Keller, Taro Fukao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MafB restricts M-CSF-dependent myeloid commitment divisions of hematopoietic stem cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2009.04.057"}], "href": "https://doi.org/10.1016/j.cell.2009.04.057"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19632180"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19632180"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Kabsun Kim, Jung Ha Kim, Junwon Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MafB negatively regulates RANKL-mediated osteoclast differentiation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2006-09-048249"}], "href": "https://doi.org/10.1182/blood-2006-09-048249"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17158225"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17158225"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Peng Cheng, Chao Chen, Hong-Bo He, et al. "}, {"type": "b", "children": [{"type": "t", "text": "miR-148a regulates osteoclastogenesis by targeting V-maf musculoaponeurotic fibrosarcoma oncogene homolog B."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Bone Miner Res (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jbmr.1845"}], "href": "https://doi.org/10.1002/jbmr.1845"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23225151"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23225151"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Andreas Zankl, Emma L Duncan, Paul J Leo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2012.01.003"}], "href": "https://doi.org/10.1016/j.ajhg.2012.01.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22387013"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22387013"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Shuangli Guo, Chunhua Dai, Min Guo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Inactivation of specific β cell transcription factors in type 2 diabetes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI65390"}], "href": "https://doi.org/10.1172/JCI65390"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23863625"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23863625"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Tao Gao, Brian McKenna, Changhong Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pdx1 maintains β cell identity and function by repressing an α cell program."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Metab (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cmet.2013.12.002"}], "href": "https://doi.org/10.1016/j.cmet.2013.12.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24506867"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24506867"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Isabella Artner, Bruno Blanchi, Jeffrey C Raum, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MafB is required for islet beta cell maturation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0700013104"}], "href": "https://doi.org/10.1073/pnas.0700013104"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17360442"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17360442"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "C Dai, M Brissova, Y Hang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Islet-enriched gene expression and glucose-induced insulin secretion in human and mouse islets."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetologia (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00125-011-2369-0"}], "href": "https://doi.org/10.1007/s00125-011-2369-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22167125"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22167125"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Timothy R Peterson, Mathieu Laplante, Carson C Thoreen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DEPTOR is an mTOR inhibitor frequently overexpressed in multiple myeloma cells and required for their survival."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2009.03.046"}], "href": "https://doi.org/10.1016/j.cell.2009.03.046"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19446321"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19446321"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "P Leif Bergsagel, W Michael Kuehl, Fenghuang Zhan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cyclin D dysregulation: an early and unifying pathogenic event in multiple myeloma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2005-01-0034"}], "href": "https://doi.org/10.1182/blood-2005-01-0034"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15755896"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15755896"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Chunyu Liu, Franak Batliwalla, Wentian Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Med (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2119/2008-00056.Liu"}], "href": "https://doi.org/10.2119/2008-00056.Liu"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18615156"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18615156"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Terri H Beaty, Jeffrey C Murray, Mary L Marazita, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.580"}], "href": "https://doi.org/10.1038/ng.580"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20436469"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20436469"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Bruno Blanchi, Louise M Kelly, Jean-Charles Viemari, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MafB deficiency causes defective respiratory rhythmogenesis and fatal central apnea at birth."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Neurosci (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nn1129"}], "href": "https://doi.org/10.1038/nn1129"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14513037"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14513037"}]}]}]}
Synonyms	KRML, DURS3, MCTO
Proteins	MAFB_HUMAN
NCBI Gene ID	9935
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

MAFB has 11,095 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 122 datasets.

Click the + buttons to view associations for MAFB from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

MAFB Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MAFB gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of MAFB gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of MAFB gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of MAFB gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of MAFB gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MAFB gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of MAFB gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MAFB gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MAFB gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of MAFB gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of MAFB gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of MAFB gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with MAFB gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with MAFB gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MAFB gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of MAFB gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of MAFB gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with MAFB gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with MAFB gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of MAFB gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing MAFB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing MAFB protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with MAFB protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with MAFB protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of MAFB gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with MAFB gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with MAFB gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with MAFB gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by MAFB gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving MAFB gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving MAFB gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with MAFB gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with MAFB gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with MAFB gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with MAFB gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with MAFB gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with MAFB gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at MAFB gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MAFB gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of MAFB gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.