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MAFB Gene

protein-coding   GIFtS: 59
GCID: GC20M039314

V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog...

(Previous name: Kreisler (mouse) maf-related leucine zipper homolog)
(Previous symbol: KRML)
  See MAFB-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog B1 2     MAFB/Kreisler Basic Region/Leucine Zipper Transcription Factor2
KRML1 2 3 5     Transcription Factor MafB2
MCTO2 5     Maf-B3
Kreisler (Mouse) Maf-Related Leucine Zipper Homolog1     V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B3
Kreisler Maf-Related Leucine Zipper Homolog2     

External Ids:    HGNC: 64081   Entrez Gene: 99352   Ensembl: ENSG000002041037   OMIM: 6089685   UniProtKB: Q9Y5Q33   

Export aliases for MAFB gene to outside databases

Previous GC identifers: GC20M039043 GC20M039952 GC20M039999 GC20M038747 GC20M036052


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B) is a protein-coding gene. Diseases associated with MAFB include multicentric carpotarsal osteolysis syndrome, and monoclonal gammopathy of uncertain significance. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NRL.

UniProtKB/Swiss-Prot: MAFB_HUMAN, Q9Y5Q3
Function: Acts as a transcriptional activator or repressor. 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, 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000020.10  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAFB gene promoter:
         AhR   STAT1   STAT1beta   Cdc5   STAT1alpha   Arnt   MEF-2A   aMEF-2   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MAFB promoter sequence
   Search Chromatin IP Primers for MAFB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAFB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.2-q13.1   Ensembl cytogenetic band:  20q12   HGNC cytogenetic band: 20q11.1-q13.1

MAFB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAFB gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M039314:  view genomic region     (about GC identifiers)

Start:
39,314,488 bp from pter      End:
39,317,880 bp from pter
Size:
3,393 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MAFB_HUMAN, Q9Y5Q3 (See protein sequence)
Recommended Name: Transcription factor MafB  
Size: 323 amino acids; 35792 Da
Subunit: 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
Secondary accessions: B3KNE1 Q9H1F1

Explore the universe of human proteins at neXtProt for MAFB: NX_Q9Y5Q3

Explore proteomics data for MAFB at MOPED

Post-translational modifications: 

  • Phosphorylated by GSK3 and MAPK13 on serine and threonine residues (Probable)1
  • Sumoylated. Sumoylation on Lys-32 and Lys-297 stimulates its transcriptional repression activity and promotes
    macrophage differentiation from myeloid progenitors (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MAFB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005452.2  
    ENSEMBL proteins: 
     ENSP00000362410   ENSP00000380167  

    MAFB Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MAFB

     
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    antibodies-online proteins for MAFB (11 products) 

     
    antibodies-online peptides for MAFB

    MAFB Antibody Products:

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    antibodies-online antibodies for MAFB (24 products) 

    MAFB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for MAFB
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    antibodies-online kits for MAFB (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR004827 bZIP
     IPR024874 Transciption_factor_Maf
     IPR008917 TF_DNA-bd
     IPR028571 MafB
     IPR004826 bZIP_Maf

    Graphical View of Domain Structure for InterPro Entry Q9Y5Q3

    ProtoNet protein and cluster: Q9Y5Q3

    2 Blocks protein domains:
    IPB004826 Maf transcription factor
    IPB013592 Maf transcription factor


    UniProtKB/Swiss-Prot: MAFB_HUMAN, Q9Y5Q3
    Domain: The leucine-zipper domain is involved in the interaction with LRPICD
    Similarity: Belongs to the bZIP family. Maf subfamily
    Similarity: Contains 1 bZIP (basic-leucine zipper) domain


    Find genes that share domains with MAFB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAFB_HUMAN, Q9Y5Q3
    Function: Acts as a transcriptional activator or repressor. 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, 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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI10698492
    GO:0008134transcription factor binding IDA10698492
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with MAFB           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MAFB:
     Increased gamma-H2AX phosphory 

         15 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mafb):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  hearing/vestibular/ear  homeostasis/metabolism  immune system  mortality/aging 
     nervous system  renal/urinary system  reproductive system  respiratory system  skeleton 

    Find genes that share phenotypes with MAFB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mafbtm1Jeng for MAFB

       genOway: Develop your customized and physiologically relevant rodent model for MAFB

    miRNA
    Products:
        
    miRTarBase miRNAs that target MAFB:
    hsa-mir-155-5p (MIRT004507), hsa-mir-335-5p (MIRT016975), hsa-mir-135b-5p (MIRT005442), hsa-mir-130a-3p (MIRT001141)

    Block miRNA regulation of human, mouse, rat MAFB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAFB (see all 88):
    hsa-miR-548j hsa-miR-640 hsa-miR-607 hsa-miR-188-5p hsa-miR-631 hsa-miR-300 hsa-miR-485-3p hsa-miR-605
    SwitchGear 3'UTR luciferase reporter plasmidMAFB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MAFB
    Predesigned siRNA for gene silencing in human, mouse, rat MAFB

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: MAFB (NM_005461)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAFB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAFB

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAFB


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MAFB_HUMAN, Q9Y5Q3: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005667transcription factor complex IEA--

    Find genes that share ontologies with MAFB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MAFB About    
    See pathways by source

    SuperPathContained pathways About
    1Tacrolimus/Cyclosporine Pathway, Pharmacodynamics
    Tacrolimus/Cyclosporine Pathway, Pharmacodynamics


    1 PharmGKB Pathway for MAFB
        Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MAFB: 
              Terminal Differentiation Markers in human mouse rat
              Cancer Drug Resistance in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MAFB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for MAFB (Q9Y5Q31, 3 ENSP000003624104) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IRF3Q146531, 3, ENSP000003101274EBI-3649340,EBI-2650369 I2D: score=2 STRING: ENSP00000310127
    JUNP054123, ENSP000003602664I2D: score=3 STRING: ENSP00000360266
    CREBBPQ927933, ENSP000002623674I2D: score=2 STRING: ENSP00000262367
    IRF7Q929853, ENSP000003294114I2D: score=2 STRING: ENSP00000329411
    HOXD12P354523, ENSP000003855864I2D: score=1 STRING: ENSP00000385586
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0007379segment specification IEA--
    GO:0007423sensory organ development TAS8001130

    Find genes that share ontologies with MAFB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MAFB



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MAFB gene: 
    NM_005461.4  

    Unigene Cluster for MAFB:

    V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)
    Hs.169487  [show with all ESTs]
    Unigene Representative Sequence: NM_005461
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373313(uc002xji.3) ENST00000396967
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MAFB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAFB (see all 88):
    hsa-miR-548j hsa-miR-640 hsa-miR-607 hsa-miR-188-5p hsa-miR-631 hsa-miR-300 hsa-miR-485-3p hsa-miR-605
    SwitchGear 3'UTR luciferase reporter plasmidMAFB 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MAFB
    Predesigned siRNA for gene silencing in human, mouse, rat MAFB
    Clone
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    OriGene ORF clones in mouse, rat for MAFB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAFB (NM_005461)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAFB
    Primer
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    OriGene qPCR primer pairs and template standards for MAFB
    OriGene qSTAR qPCR primer pairs in human, mouse for MAFB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAFB
      QuantiTect SYBR Green Assays in human, mouse, rat MAFB
      QuantiFast Probe-based Assays in human, mouse, rat MAFB

    Additional mRNA sequence: 

    AF086178.1 AF134157.1 AK027324.1 BC028098.1 BC036689.1 

    7 DOTS entries:

    DT.100752412  DT.416351  DT.100752413  DT.120797989  DT.120797961  DT.120797963  DT.92042090 

    Selected AceView cDNA sequences (see all 178):

    N32635 BQ631848 AV653414 BI962692 BU790225 AI417601 BQ710402 BQ129935 
    BU616625 AW140037 AA725480 CR611755 CA842975 T24463 AL544306 BU072400 
    BI439023 BU783903 BQ632148 AI027385 AI092862 CA431322 AI650671 AA583143 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MAFB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAATAAGG
    MAFB Expression
    About this image


    MAFB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 15 entries
             Intermediate Beta Progenitor Cells Dorsal Pancreatic Bud
             Pancreatic endoderm/endocrine precursor-like cells
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Presumptive Podocytes Podocyte Layer
             S-shaped Body
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Roof Plate Cells Mesencephalic Roof Plate
             Mesencephalic Roof Plate
             Floor plate-like cells
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
    MAFB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAFB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.169487

    UniProtKB/Swiss-Prot: MAFB_HUMAN, Q9Y5Q3
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MAFB: 
              Terminal Differentiation Markers in human mouse rat
              Cancer Drug Resistance in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MAFB
    OriGene qSTAR qPCR primer pairs in human, mouse for MAFB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAFB
    QuantiTect SYBR Green Assays in human, mouse, rat MAFB
    QuantiFast Probe-based Assays in human, mouse, rat MAFB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAFB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MAFB gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mafb1 , 5 v-maf musculoaponeurotic fibrosarcoma oncogene family, more1, 5 92.88(n)1
    97.21(a)1
      2 (80.92 cM)5
    166581  NM_010658.31  NP_034788.11 
     1603637035 
    chicken
    (Gallus gallus)
    Aves MAFB1 v-maf musculoaponeurotic fibrosarcoma oncogene homolog more 81.45(n)
    84.14(a)
      419173  NM_001030852.1  NP_001026023.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.248392 Xenopus laevis bZIP transcription factor mafB (mafB) more 82.08(n)    AF202058.1 
    zebrafish
    (Danio rerio)
    Actinopterygii val2 valentino 81.95(n)   30210  AB006322.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tj6
    traffic jam
    22(a)
    1 → many
    2L(19464267-19467758)
    worm
    (Caenorhabditis elegans)
    Secernentea maf-16
    Protein MAF-1 (maf-1) mRNA, complete cds
    33(a)
    1 → many
    I(10382746-10384222) WBGene00077521


    ENSEMBL Gene Tree for MAFB (if available)
    TreeFam Gene Tree for MAFB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAFB gene
    NRL2  MAFF2  MAFG2  MAFA2  MAFK2  MAF2  
    4 SIMAP similar genes for MAFB using alignment to 2 protein entries:     MAFB_HUMAN (see all proteins):
    MAFK    MAF    MAFA    NRL

    Find genes that share paralogs with MAFB           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MAFB (see all 109)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0679844
    Multicentric carpotarsal osteolysis syndrome (MCTO)4--see VAR_0679842 S L mis40--------
    VAR_0679834
    Multicentric carpotarsal osteolysis syndrome (MCTO)4--see VAR_0679832 S C mis40--------
    VAR_0679804
    Multicentric carpotarsal osteolysis syndrome (MCTO)4--see VAR_0679802 P L mis40--------
    VAR_0679874
    Multicentric carpotarsal osteolysis syndrome (MCTO)4--see VAR_0679872 P L mis40--------
    VAR_0679814
    Multicentric carpotarsal osteolysis syndrome (MCTO)4--see VAR_0679812 T P mis40--------
    VAR_0679794
    Multicentric carpotarsal osteolysis syndrome (MCTO)4--see VAR_0679792 S L mis40--------
    VAR_0679864
    Multicentric carpotarsal osteolysis syndrome (MCTO)4--see VAR_0679862 S L mis40--------
    VAR_0679854
    Multicentric carpotarsal osteolysis syndrome (MCTO)4--see VAR_0679852 S A mis40--------
    VAR_0679824
    Multicentric carpotarsal osteolysis syndrome (MCTO)4--see VAR_0679822 P R mis40--------
    VAR_0679884
    Multicentric carpotarsal osteolysis syndrome (MCTO)4--see VAR_0679882 P S mis40--------

    HapMap Linkage Disequilibrium report for MAFB (39314488 - 39317880 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MAFB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833978CNV Gain17160897

    Human Gene Mutation Database (HGMD): MAFB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAFB
    DNA2.0 Custom Variant and Variant Library Synthesis for MAFB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608968   
    OMIM disorders: 166300  
    UniProtKB/Swiss-Prot: MAFB_HUMAN, Q9Y5Q3
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for MAFB:    
    About MalaCards
    multicentric carpotarsal osteolysis syndrome    monoclonal gammopathy of uncertain significance    fibrosarcoma    posterior polar cataract

    2 diseases from the University of Copenhagen DISEASES database for MAFB:
    Multiple myeloma     Monoclonal gammopathy of uncertain significance

    Find genes that share disorders with MAFB           About GenesLikeMe

    Genetic Association Database (GAD): MAFB
    Human Genome Epidemiology (HuGE) Navigator: MAFB (3 documents)

    Export disorders for MAFB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MAFB gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with MAFB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias. (PubMed id 10444328)1, 2, 3, 9 Wang P.W....Le Beau M.M. (Genomics 1999)
    2. Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. (PubMed id 18615156)1, 4, 9 Liu C....Gregersen P.K. (Mol. Med. 2008)
    3. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. (PubMed id 22387013)1, 2 Zankl A....Brown M.A. (Am. J. Hum. Genet. 2012)
    4. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. (PubMed id 20436469)1, 4 Beaty T.H....Scott A.F. (Nat. Genet. 2010)
    5. Common variants at 30 loci contribute to polygenic dyslipidemia. (PubMed id 19060906)1, 4 Kathiresan S....Cupples L.A. (Nat. Genet. 2009)
    6. Low-density lipoprotein receptor-related protein interacts with MafB, a regulator of hindbrain development. (PubMed id 15135046)1, 2 Petersen H.H....Willnow T.E. (FEBS Lett. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    10. Balance of MafB and PU.1 specifies alternative macrophage or dendritic cell fate. (PubMed id 15598817)1, 9 Bakri Y....Sieweke M.H. (Blood 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9935 HGNC: 6408 AceView: MAFB Ensembl:ENSG00000204103 euGenes: HUgn9935
    ECgene: MAFB H-InvDB: MAFB

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MAFB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAFB Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MAFB gene:
    Search GeneIP for patents involving MAFB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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