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] See more...

Aliases for MAFB Gene

Aliases for MAFB Gene

  • MAF BZIP Transcription Factor B 2 3 5
  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog B 2 3
  • Transcription Factor MafB 3 4
  • KRML 3 4
  • MAFB/Kreisler Basic Region/Leucine Zipper Transcription Factor 3
  • V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B 4
  • Kreisler (Mouse) Maf-Related Leucine Zipper Homolog 2
  • Kreisler Maf-Related Leucine Zipper Homolog 3
  • DURS3 3
  • Maf-B 4
  • MCTO 3

External Ids for MAFB Gene

Previous HGNC Symbols for MAFB Gene

  • KRML

Previous GeneCards Identifiers for MAFB Gene

  • GC20M039043
  • GC20M039952
  • GC20M039999
  • GC20M038747
  • GC20M039314
  • GC20M036052

Summaries for MAFB Gene

Entrez Gene Summary for MAFB Gene

  • 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]

GeneCards Summary for MAFB Gene

MAFB (MAF BZIP Transcription Factor B) is a Protein Coding gene. Diseases associated with MAFB include Multicentric Carpotarsal Osteolysis Syndrome and Duane Retraction Syndrome 3 With Or Without Deafness. Among its related pathways are Ectoderm Differentiation and Parathyroid hormone synthesis, secretion and action. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is MAF.

UniProtKB/Swiss-Prot Summary for MAFB Gene

  • Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context.

Gene Wiki entry for MAFB Gene

Additional gene information for MAFB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAFB Gene

Genomics for MAFB Gene

GeneHancer (GH) Regulatory Elements for MAFB Gene

Promoters and enhancers for MAFB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J040686 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.9 939 6.2 EP300 CTCF USF1 POLR2G ZIC2 POLR2A ZBTB10 CLOCK ZBTB26 SAP30 MAFB LOC105372620
GH20J040505 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 23.1 +182.6 182612 1.7 USF1 JUND ZIC2 TOE1 EP300 RAD51 MYC CTCF CEBPB SMARCC1 MAFB lnc-TOP1-10 HSALNG0130113
GH20J040561 Enhancer 1.2 FANTOM5 Ensembl ENCODE 24 +125.0 125039 5.6 JUND ZIC2 SP1 EP300 ZNF282 DEK CTCF NFIC FOSL1 GABPA MAFB TOP1 HSALNG0130113 lnc-TOP1-10
GH20J041001 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 18.5 -316.7 -316699 9.1 EP300 FOXK2 ZBTB40 ZNF217 TCF12 POLR2G USF1 NCOR1 JUND FOS LOC105372621 lnc-ZHX3-6 MAFB TOP1 PLCG1 PLCG1-AS1 LPIN3 EMILIN3 piR-50444-277 lnc-TOP1-4
GH20J040492 Enhancer 1 FANTOM5 ENCODE dbSUPER 21 +194.8 194758 3.6 CTCF FOS CEBPB SPI1 RCOR1 NR3C1 JUND MAX EP300 BHLHE40 lnc-TOP1-11 MAFB lnc-TOP1-7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAFB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAFB

Top Transcription factor binding sites by QIAGEN in the MAFB gene promoter:
  • AhR
  • aMEF-2
  • Arnt
  • CBF(2)
  • Cdc5
  • MEF-2A
  • NF-Y
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for MAFB Gene

Genomic Locations for MAFB Gene
chr20:40,685,848-40,689,240
(GRCh38/hg38)
Size:
3,393 bases
Orientation:
Minus strand
chr20:39,314,488-39,317,880
(GRCh37/hg19)
Size:
3,393 bases
Orientation:
Minus strand

Genomic View for MAFB Gene

Genes around MAFB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAFB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAFB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAFB Gene

Proteins for MAFB Gene

  • Protein details for MAFB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5Q3-MAFB_HUMAN
    Recommended name:
    Transcription factor MafB
    Protein Accession:
    Q9Y5Q3
    Secondary Accessions:
    • B3KNE1
    • Q9H1F1

    Protein attributes for MAFB Gene

    Size:
    323 amino acids
    Molecular mass:
    35792 Da
    Quaternary structure:
    • Homodimer or heterodimer with other bHLH-Zip transcription factors. Binds DNA as a homodimer or a heterodimer. Forms homodimers and heterodimers with FOS, FOSB and FOSL2, but not with JUN proteins (JUN, JUNB and JUND). Interacts with PAX6; the interaction is direct. Interacts with ETS1 and LRP1 (By similarity). Interacts with the intracellular cytoplasmic domain of LRP1 (LRPICD); the interaction results in a moderate reduction of MAFB transcriptional potential.

neXtProt entry for MAFB Gene

Post-translational modifications for MAFB Gene

  • Phosphorylated by GSK3 and MAPK13 on serine and threonine residues.
  • Sumoylated. Sumoylation on Lys-32 and Lys-297 stimulates its transcriptional repression activity and promotes macrophage differentiation from myeloid progenitors (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAFB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAFB Gene

Domains & Families for MAFB Gene

Gene Families for MAFB Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MAFB Gene

Blocks:
  • Maf transcription factor
  • Maf transcription factor, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAFB Gene

GenScript: Design optimal peptide antigens:
  • V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y5Q3

UniProtKB/Swiss-Prot:

MAFB_HUMAN :
  • The leucine-zipper domain is involved in the interaction with LRPICD.
  • Belongs to the bZIP family. Maf subfamily.
Domain:
  • The leucine-zipper domain is involved in the interaction with LRPICD.
Family:
  • Belongs to the bZIP family. Maf subfamily.
genes like me logo Genes that share domains with MAFB: view

Function for MAFB Gene

Molecular function for MAFB Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context.

Phenotypes From GWAS Catalog for MAFB Gene

Gene Ontology (GO) - Molecular Function for MAFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS,IEA 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IBA 21873635
genes like me logo Genes that share ontologies with MAFB: view
genes like me logo Genes that share phenotypes with MAFB: view

Human Phenotype Ontology for MAFB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAFB Gene

MGI Knock Outs for MAFB:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MAFB Gene

Localization for MAFB Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAFB Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAFB gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,TAS 21873635
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with MAFB: view

Pathways & Interactions for MAFB Gene

genes like me logo Genes that share pathways with MAFB: view

SIGNOR curated interactions for MAFB Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MAFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IMP 27181683
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007379 segment specification IEA --
GO:0007423 sensory organ development TAS 8001130
GO:0007585 respiratory gaseous exchange IEA --
genes like me logo Genes that share ontologies with MAFB: view

Drugs & Compounds for MAFB Gene

(1) Drugs for MAFB Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tumor necrosis factor alpha (TNF-alpha) inhibitors Pharma 0
genes like me logo Genes that share compounds with MAFB: view

Transcripts for MAFB Gene

mRNA/cDNA for MAFB Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAFB Gene

No ASD Table

Relevant External Links for MAFB Gene

GeneLoc Exon Structure for
MAFB

Expression for MAFB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAFB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAFB Gene

This gene is overexpressed in Spleen (x6.4) and Skin - Sun Exposed (Lower leg) (x4.5).

Protein differential expression in normal tissues from HIPED for MAFB Gene

This gene is overexpressed in Liver, secretome (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAFB Gene



Protein tissue co-expression partners for MAFB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAFB

SOURCE GeneReport for Unigene cluster for MAFB Gene:

Hs.169487

mRNA Expression by UniProt/SwissProt for MAFB Gene:

Q9Y5Q3-MAFB_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MAFB Gene

  • Nervous system(4.7)
  • Bone marrow(4.5)
  • Pancreas(4)
  • Spleen(3.9)
  • Blood(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAFB Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MAFB: view

Orthologs for MAFB Gene

This gene was present in the common ancestor of animals.

Orthologs for MAFB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAFB 31 30
  • 99.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MAFB 31 30
  • 94.53 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mafb 30
  • 93.09 (n)
dog
(Canis familiaris)
Mammalia MAFB 31
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mafb 17 31 30
  • 92.88 (n)
oppossum
(Monodelphis domestica)
Mammalia MAFB 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAFB 30
  • 81.45 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia mafb 30
  • 75.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24839 30
zebrafish
(Danio rerio)
Actinopterygii mafba 31
  • 63 (a)
OneToMany
mafbb 31
  • 49 (a)
OneToMany
val 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10331 30
fruit fly
(Drosophila melanogaster)
Insecta tj 31
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea maf-1 31
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
ManyToMany
Species where no ortholog for MAFB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAFB Gene

ENSEMBL:
Gene Tree for MAFB (if available)
TreeFam:
Gene Tree for MAFB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAFB: view image

Paralogs for MAFB Gene

Paralogs for MAFB Gene

(4) SIMAP similar genes for MAFB Gene using alignment to 2 proteins:

  • MAFB_HUMAN
  • L8ECC4_HUMAN
genes like me logo Genes that share paralogs with MAFB: view

Variants for MAFB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAFB Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
684763 Likely Pathogenic: Carpal osteolysis 40,688,678(-) G/C MISSENSE_VARIANT
742916 Likely Benign: not provided 40,688,779(-) G/A SYNONYMOUS_VARIANT
784409 Benign: not provided 40,688,137(-) G/A SYNONYMOUS_VARIANT
803608 Pathogenic: Multicentric osteolysis nephropathy 40,688,666(-) G/A MISSENSE_VARIANT
807627 Pathogenic: Multicentric osteolysis nephropathy 40,688,667(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MAFB Gene

Structural Variations from Database of Genomic Variants (DGV) for MAFB Gene

Variant ID Type Subtype PubMed ID
nsv1064246 CNV loss 25217958
nsv833978 CNV gain 17160897
nsv954036 CNV deletion 24416366

Variation tolerance for MAFB Gene

Residual Variation Intolerance Score: 35.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAFB Gene

Human Gene Mutation Database (HGMD)
MAFB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAFB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAFB Gene

Disorders for MAFB Gene

MalaCards: The human disease database

(17) MalaCards diseases for MAFB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

MAFB_HUMAN
  • Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]: A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. {ECO:0000269 PubMed:22387013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Duane retraction syndrome 3 with or without deafness (DURS3) [MIM:617041]: A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. Some DURS3 patients manifest sensorineural hearing loss. {ECO:0000269 PubMed:27181683}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MAFB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MAFB: view

No data available for Genatlas for MAFB Gene

Publications for MAFB Gene

  1. Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias. (PMID: 10444328) Wang PW … Le Beau MM (Genomics 1999) 2 3 4 23 54
  2. Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. (PMID: 18615156) Liu C … Gregersen PK (Molecular medicine (Cambridge, Mass.) 2008) 3 23 41 54
  3. Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. (PMID: 27181683) Park JG … Engle EC (American journal of human genetics 2016) 3 4 54
  4. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. (PMID: 22387013) Zankl A … Brown MA (American journal of human genetics 2012) 3 4 54
  5. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. (PMID: 20436469) Beaty TH … Scott AF (Nature genetics 2010) 3 41 54

Products for MAFB Gene

Sources for MAFB Gene