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

Summary

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: mouse all
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Genomic context

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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?
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.
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.
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.
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

Associated conditions

Description	Tests
Duane retraction syndrome 3 with or without deafness MedGen: C4310752 OMIM: 617041 GeneReviews: Duane Syndrome	not available
Multicentric carpo-tarsal osteolysis with or without nephropathy MedGen: C2674705 OMIM: 166300 GeneReviews: Not available	not available

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC180917P2 (e-PCR)
- UniSTS:271670

MAFB (e-PCR)
- UniSTS:505942

RH103094 (e-PCR)
- UniSTS:97428

G06850 (e-PCR)
- UniSTS:13012

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

NG_023378.1 RefSeqGene

Range

5001..8389

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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