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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
  • 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
  • Transcription Factor MafB 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 1. Among its related pathways are Tacrolimus/Cyclosporine Pathway, Pharmacodynamics and Ectoderm Differentiation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is MAF.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAFB Gene

Genomics for MAFB Gene

Regulatory Elements for MAFB Gene

Enhancers for MAFB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G040505 1.8 FANTOM5 Ensembl ENCODE dbSUPER 23.1 +182.6 182612 1.7 DNMT3B RAD21 YY1 RCOR1 FOS ZHX1 SMARCC1 NFYA CEBPB USF2 MAFB LOC105372618 LOC102724968
GH20G041001 2 FANTOM5 Ensembl ENCODE dbSUPER 18.5 -316.7 -316699 9.1 MLX ZFP64 YBX1 FEZF1 DMAP1 SLC30A9 ZNF143 NFYC MEF2D SSRP1 MAFB TOP1 PLCG1-AS1 PLCG1 LPIN3 EMILIN3 LOC105372621 GC20M041019
GH20G040497 1.6 FANTOM5 Ensembl ENCODE dbSUPER 22.5 +190.9 190851 2.5 BACH1 ZNF175 ZMYM3 FOSL1 ZNF316 NFE2 ETV6 FOS MAFK SMARCE1 MAFB LOC105372618 LOC102724968
GH20G040561 1.4 FANTOM5 Ensembl ENCODE 24 +126.3 126329 2.3 KLF1 NFIB MAX BRCA1 ZIC2 ZBTB40 RFX5 RCOR1 FOS FOSL2 MAFB TOP1 LOC102724968 LOC105372618
GH20G040492 1.5 FANTOM5 Ensembl ENCODE dbSUPER 21 +194.8 194758 3.6 CTCF BHLHE40 USF2 CEBPB MAX EP300 ATF2 FOXA1 GATA3 JUND MAFB LOC105372618 LOC102724968
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAFB on UCSC Golden Path with GeneCards custom track

Promoters for MAFB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000137209 1039 4400 PKNOX1 ZNF133 SIN3A ZNF48 ZBTB7B YY1 GLIS2 ZNF143 KLF7 SP3

Genomic Location for MAFB Gene

Chromosome:
20
Start:
40,685,848 bp from pter
End:
40,689,240 bp from pter
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

Suggested Antigen Peptide Sequences for MAFB Gene

GenScript: Design optimal peptide antigens:

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.

Gene Ontology (GO) - Molecular Function for MAFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 10698492
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

  • Taconic Biosciences Mouse Models for MAFB

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAFB

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
extracellular 1

Gene Ontology (GO) - Cellular Components for MAFB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,TAS --
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IMP 27181683
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007379 segment specification 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 :
(5) Additional mRNA sequences :
(178) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MAFB Gene

V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAFB

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

No ASD Table

Relevant External Links for MAFB Gene

GeneLoc Exon Structure for
MAFB
ECgene alternative splicing isoforms for
MAFB

Expression for MAFB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for MAFB Gene



Protein tissue co-expression partners for MAFB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAFB Gene:

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
Organs:
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

Primer Products

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 34 35
  • 99.9 (n)
cow
(Bos Taurus)
Mammalia MAFB 34 35
  • 94.53 (n)
rat
(Rattus norvegicus)
Mammalia Mafb 34
  • 93.09 (n)
dog
(Canis familiaris)
Mammalia MAFB 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mafb 34 16 35
  • 92.88 (n)
oppossum
(Monodelphis domestica)
Mammalia MAFB 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAFB 34
  • 81.45 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia mafb 34
  • 75.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24839 34
zebrafish
(Danio rerio)
Actinopterygii mafba 35
  • 63 (a)
OneToMany
mafbb 35
  • 49 (a)
OneToMany
val 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10331 34
fruit fly
(Drosophila melanogaster)
Insecta tj 35
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea maf-1 35
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for MAFB Gene

Paralogs for MAFB Gene

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

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

Variants for MAFB Gene

Sequence variations from dbSNP and Humsavar for MAFB Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs387907004 Pathogenic, Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] 40,688,667(-) TCAGC(A/C)CTCCG reference, missense
rs387907005 Pathogenic, Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] 40,688,643(-) CCTCG(G/T)CGCCC reference, missense
rs387907006 Pathogenic, Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] 40,688,642(-) CTCGT(C/T)GCCCA reference, missense
rs387907007 Pathogenic, Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] 40,688,640(-) CGTCG(C/T)CCAGC reference, missense
rs387907008 Pathogenic, Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300] 40,688,639(-) GTCGC(C/T)CAGCT reference, missense

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)

Relevant External Links for MAFB Gene

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

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

Disorders for MAFB Gene

MalaCards: The human disease database

(12) MalaCards diseases for MAFB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
multicentric carpotarsal osteolysis syndrome
  • idiopathic multicentric osteolysis with or without nephropathy
duane retraction syndrome 1
  • duane anomaly
duane syndrome type 2
  • duane retraction syndrome 2
duane syndrome type 1
  • duane retraction syndrome 1
duane retraction syndrome 2
  • durs2
- elite association - COSMIC cancer census association via MalaCards
Search MAFB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MAFB_HUMAN
  • 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.
  • 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.

Relevant External Links for MAFB

Genetic Association Database (GAD)
MAFB
Human Genome Epidemiology (HuGE) Navigator
MAFB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAFB
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 P.W. … Le Beau M.M. (Genomics 1999) 2 3 4 22 64
  2. Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. (PMID: 18615156) Liu C. … Gregersen P.K. (Mol. Med. 2008) 3 22 46 64
  3. Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. (PMID: 27181683) Park J.G. … Engle E.C. (Am. J. Hum. Genet. 2016) 3 4 64
  4. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. (PMID: 22387013) Zankl A. … Brown M.A. (Am. J. Hum. Genet. 2012) 3 4 64
  5. Identification of bZIP interaction partners of viral proteins HBZ, MEQ, BZLF1, and K-bZIP using coiled-coil arrays. (PMID: 20102225) Reinke A.W. … Keating A.E. (Biochemistry 2010) 3 22 64

Products for MAFB Gene

Sources for MAFB Gene

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