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

Gene ID: 9935, updated on 2-Nov-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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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
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