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    MAFB MAF bZIP transcription factor B [ Homo sapiens (human) ]

    Gene ID: 9935, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MAFBprovided by HGNC
    Official Full Name
    MAF bZIP transcription factor Bprovided by HGNC
    Primary source
    HGNC:HGNC:6408
    See related
    Ensembl:ENSG00000204103 MIM:608968; AllianceGenome:HGNC:6408
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KRML; MCTO; DURS3
    Summary
    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]
    Orthologs
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    Genomic context

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    See MAFB in Genome Data Viewer
    Location:
    20q12
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (40685848..40689236, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (42417334..42420722, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (39314488..39317876, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724968 Neighboring gene uncharacterized LOC107985435 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:39272519-39272668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39281495-39281994 Neighboring gene Sharpr-MPRA regulatory region 10482 Neighboring gene uncharacterized LOC105372620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39318089-39319066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39319067-39320042 Neighboring gene uncharacterized LOC101927098 Neighboring gene VISTA enhancer hs1086 Neighboring gene small nucleolar RNA, C/D box 154 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:39391384-39391884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:39398981-39399542 Neighboring gene RNA, 5S ribosomal pseudogene 484

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. Zankl A, et al. Am J Hum Genet, 2012 Mar 9. PMID 22387013, Free PMC Article
    2. Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing. Li J, et al. Eur J Med Genet, 2020 Jun. PMID 32278749
    3. Three cases of multicentric carpotarsal osteolysis syndrome: a case series. Park PG, et al. BMC Med Genet, 2018 Sep 12. PMID 30208859, Free PMC Article
    4. Family-based study of association between MAFB gene polymorphisms and NSCL/P among Western Han Chinese population. Zhang B, et al. Adv Clin Exp Med, 2018 Aug. PMID 30024657
    5. MAFb protein confers intrinsic resistance to proteasome inhibitors in multiple myeloma. Qiang YW, et al. BMC Cancer, 2018 Jul 6. PMID 29980194, Free PMC Article

    See all (117) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MAFB shapes human monocyte-derived macrophage response to SARS-CoV-2 and controls severe COVID-19 biomarker expression.
      Title: MAFB shapes human monocyte-derived macrophage response to SARS-CoV-2 and controls severe COVID-19 biomarker expression.
    2. Reversal of MYB-dependent suppression of MAFB expression overrides leukaemia phenotype in MLL-rearranged AML.
      Title: Reversal of MYB-dependent suppression of MAFB expression overrides leukaemia phenotype in MLL-rearranged AML.
    3. Inhibition of LXR controls the polarization of human inflammatory macrophages through upregulation of MAFB.
      Title: Inhibition of LXR controls the polarization of human inflammatory macrophages through upregulation of MAFB.
    4. MafB-dependent neurotransmitter signaling promotes beta cell migration in the developing pancreas.
      Title: MafB-dependent neurotransmitter signaling promotes β cell migration in the developing pancreas.
    5. Misexpression of LINC01410, FOSL1, and MAFB in peripheral blood mononuclear cells associated with diabetic nephropathy.
      Title: Misexpression of LINC01410, FOSL1, and MAFB in peripheral blood mononuclear cells associated with diabetic nephropathy.
    6. Podocyte-specific Transcription Factors: Could MafB Become a Therapeutic Target for Kidney Disease?
      Title: Podocyte-specific Transcription Factors: Could MafB Become a Therapeutic Target for Kidney Disease?
    7. Circ_0051079 functions as an oncogenic regulator in osteosarcoma by leading to MAFB expression upregulation by competitively interacting with miR-1286.
      Title: Circ_0051079 functions as an oncogenic regulator in osteosarcoma by leading to MAFB expression upregulation by competitively interacting with miR-1286.
    8. GPBAR1 promotes proliferation and is related to poor prognosis of high-grade glioma via inducing MAFB expression.
      Title: GPBAR1 promotes proliferation and is related to poor prognosis of high-grade glioma via inducing MAFB expression.
    9. Repression of Mafb promotes foreskin fibroblast proliferation through upregulation of CDK2, cyclin E and PCNA.
      Title: Repression of Mafb promotes foreskin fibroblast proliferation through upregulation of CDK2, cyclin E and PCNA.
    10. MAFB promotes the malignant phenotypes by IGFBP6 in esophageal squamous cell carcinomas.
      Title: MAFB promotes the malignant phenotypes by IGFBP6 in esophageal squamous cell carcinomas.
    Submit: New GeneRIF Correction See all GeneRIFs (75)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2015-05-21)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2015-05-21)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
    EBI GWAS Catalog
    Genome-wide association study of serious blistering skin rash caused by drugs.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Wnt signaling and Dupuytren's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC43127

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in abducens nerve formation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in brain segmentation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cornified envelope assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in integrated stress response signaling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of erythrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of osteoclast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of myeloid cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in respiratory gaseous exchange by respiratory system IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rhombomere 5 development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in rhombomere 6 development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in segment specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sensory organ development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in thymus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of RNA polymerase II transcription regulator complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transcription factor MafB
    Names
    Kreisler maf-related leucine zipper homolog
    MAFB/Kreisler basic region/leucine zipper transcription factor
    v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023378.1 RefSeqGene

      Range
      5001..8389
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005461.5 → NP_005452.2  transcription factor MafB

      See identical proteins and their annotated locations for NP_005452.2

      Status: REVIEWED

      Source sequence(s)
      AF134157, BC028098, BQ271704, DA719830
      Consensus CDS
      CCDS13311.1
      UniProtKB/Swiss-Prot
      B3KNE1, Q9H1F1, Q9Y5Q3
      Related
      ENSP00000362410.2, ENST00000373313.3
      Conserved Domains (2) summary
      cd14718
      Location:233 → 302
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:81 → 113
      Maf_N; Maf N-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      40685848..40689236 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      42417334..42420722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y5Q3.2 GenPept UniProtKB/Swiss-Prot:Q9Y5Q3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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