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MAF Gene

protein-coding   GIFtS: 62
GCID: GC16M079627

V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog

  See MAF-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 Homolog1 2     C-Maf Proto-Oncogene2
Proto-Oncogene C-Maf2 3     T Lymphocyte C-Maf Long Form2
CCA42 5     Transcription Factor Maf2
Avian Musculoaponeurotic Fibrosarcoma (MAF) Protooncogene2     V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog3
c-MAF2     

External Ids:    HGNC: 67761   Entrez Gene: 40942   Ensembl: ENSG000001785737   OMIM: 1770755   UniProtKB: O754443   

Export aliases for MAF gene to outside databases

Previous GC identifers: GC16M070559 GC16M080589 GC16M079366 GC16M079407 GC16M078185 GC16M065384


(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 MAF Gene:
The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a
homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a
transcriptional activator or repressor. This protein plays a role in the regulation of several cellular
processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and
chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as
well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been
found for this gene. (provided by RefSeq, Jan 2010)

GeneCards Summary for MAF Gene:
MAF (v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog) is a protein-coding gene. Diseases associated with MAF include cataract, and plasma cell leukemia. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NRL.

UniProtKB/Swiss-Prot: MAF_HUMAN, O75444
Function: Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development.
Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of
crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2)
cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression.
Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates
transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in
early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial
chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone
development. Binds to the sequence 5'-[GT]G[GC]N[GT]NCTCAGNN-3' in the L7 promoter. Binds to the T-MARE (Maf
response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the
glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13
proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response
element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the
cell context. Binds to the ARE sites of detoxifying enzyme gene promoters

Gene Wiki entry for MAF 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_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAF gene promoter:
         E2F-4   E2F-3a   E2F-1   E2F   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): MAF promoter sequence
   Search Chromatin IP Primers for MAF

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


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

Entrez Gene cytogenetic band: 16q22-q23   Ensembl cytogenetic band:  16q23.2   HGNC cytogenetic band: 16q22-q23

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M079627:  view genomic region     (about GC identifiers)

Start:
79,619,740 bp from pter      End:
79,634,622 bp from pter
Size:
14,883 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MAF_HUMAN, O75444 (See protein sequence)
Recommended Name: Transcription factor Maf  
Size: 373 amino acids; 38492 Da
Subunit: Homodimer or heterodimer with other bHLH-Zip transcription factors. Binds DNA as a homodimer or as a
heterodimer. Heterotetramer of two MAF and two USF2. Interacts with PAX6; the interaction is direct. Interacts
with MYB; interaction takes place weakly in normal T-cells and increases in T-cells following stimulation through
the TCR engagement. Interacts with MYB; the ternary complex formed with MYB and the CD13 promoter is regulated in
response to differentiating signals. Interacts with USF2; the interaction inhibits its DNA-binding activity on
the L7 promoter. Interacts with CREBBP, EP300 and ETS1 (By similarity)
Secondary accessions: Q66I47 Q9UP93
Alternative splicing: 2 isoforms:  O75444-2   O75444-1   

Explore the universe of human proteins at neXtProt for MAF: NX_O75444

Explore proteomics data for MAF at MOPED

Post-translational modifications: 

  • Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by glucocorticoids1
  • Phosphorylated by GSK3 and MAPK13 on serine and threonine residues (Probable). The phosphorylation status can
    serve to either stimulate or inhibit transcription1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001026974.1  NP_005351.2  

    ENSEMBL proteins: 
     ENSP00000455097   ENSP00000327048   ENSP00000377019  

    MAF Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MAF
    GenScript Custom Purified and Recombinant Proteins Services for MAF
    Novus Biologicals MAF Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAF

     
    Search eBioscience for Proteins for MAF 

    MAF Antibody Products:

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    Browse R&D Systems for Antibodies
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    Novus Biologicals MAF Antibodies
    Search for Antibodies for MAF at Abcam
    Cloud-Clone Corp. Antibodies for MAF
    ThermoFisher Antibodies for MAF
    LSBio Antibodies in human, mouse, rat for MAF

    MAF Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MAF
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MAF
    Cloud-Clone Corp. CLIAs for MAF
    Search eBioscience for ELISAs for MAF 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR004827 bZIP
     IPR024874 Transciption_factor_Maf
     IPR008917 TF_DNA-bd
     IPR004826 bZIP_Maf
     IPR013592 Maf_TF_N

    Graphical View of Domain Structure for InterPro Entry O75444

    ProtoNet protein and cluster: O75444

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


    UniProtKB/Swiss-Prot: MAF_HUMAN, O75444
    Similarity: Belongs to the bZIP family. Maf subfamily
    Similarity: Contains 1 bZIP (basic-leucine zipper) domain


    Find genes that share domains with MAF           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: MAF_HUMAN, O75444
    Function: Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development.
    Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of
    crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2)
    cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression.
    Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates
    transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in
    early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial
    chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone
    development. Binds to the sequence 5'-[GT]G[GC]N[GT]NCTCAGNN-3' in the L7 promoter. Binds to the T-MARE (Maf
    response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the
    glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13
    proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response
    element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the
    cell context. Binds to the ARE sites of detoxifying enzyme gene promoters
    Induction: Up-regulated with tert-butyl hydroquinone (t-BHQ)

         Genatlas biochemistry entry for MAF:
    avian musculoaponeurotic fibrosarcoma (v-maf) oncogene homolog

         Gene Ontology (GO): 4 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 ----
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with MAF           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MAF:
     Increased cell number in G2M,  

         10 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Maf):
     behavior/neurological  craniofacial  growth/size/body  homeostasis/metabolism  immune system 
     integument  mortality/aging  nervous system  renal/urinary system  vision/eye 

    Find genes that share phenotypes with MAF           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Maftm1Glm for MAF

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAF
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAF

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAF
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAF

    miRNA
    Products:
        
    miRTarBase miRNAs that target MAF:
    kshv-mir-k12-6-3p (MIRT003206), kshv-mir-k12-6-5p (MIRT003205), kshv-mir-k12-1-5p (MIRT003208), kshv-mir-k12-11-3p (MIRT003207)

    Block miRNA regulation of human, mouse, rat MAF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAF (see all 179):
    hsa-miR-194* hsa-miR-411* hsa-miR-1273d hsa-miR-200b hsa-miR-510 hsa-miR-130b hsa-miR-374b* hsa-miR-186*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MAF
    Predesigned siRNA for gene silencing in human, mouse, rat MAF

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MAF

    Clone
    Products:
         
    OriGene clones in human, mouse for MAF (see all 11)
    OriGene ORF clones in mouse, rat for MAF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MAF (NM_005360)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAF
    Addgene plasmids for MAF 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MAF 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAF


    (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
    MAF_HUMAN, O75444: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    cytoskeleton1
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin TAS9616139
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with MAF           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 MAF About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes0.38
    2Leishmaniasis
    Inflammatory bowel disease (IBD)0.34
    3Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    4Tacrolimus/Cyclosporine Pathway, Pharmacodynamics
    Tacrolimus/Cyclosporine Pathway, Pharmacodynamics
    5Keap1-Nrf2 Pathway
    Keap1-Nrf2 Pathway


    Find genes that share SuperPaths with MAF           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for MAF
        Keap1-Nrf2 Pathway
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes
    C-MYB transcription factor network

    1 PharmGKB Pathway for MAF
        Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

    2 Kegg Pathways  (Kegg details for MAF):
        Transcriptional misregulation in cancer
    Inflammatory bowel disease (IBD)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MAF: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Notch Signaling Targets in human mouse rat
              Th1/Th2 Response in human mouse rat
              T Helper Cell Differentiation in human mouse rat
              Allergy & Asthma in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MAF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MAF (O754443 ENSP000003270484) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYBP102423, ENSP000003399924I2D: score=3 STRING: ENSP00000339992
    JUNP054123, ENSP000003602664I2D: score=2 STRING: ENSP00000360266
    MAFGO155253, ENSP000003503694I2D: score=2 STRING: ENSP00000350369
    AHRP358693, ENSP000002420574I2D: score=1 STRING: ENSP00000242057
    HOXD12P354523, ENSP000003855864I2D: score=1 STRING: ENSP00000385586
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001816cytokine production IEA--
    GO:0002088lens development in camera-type eye ----
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS9616139

    Find genes that share ontologies with MAF           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 MAF

    4 Novoseek inferred chemical compound relationships for MAF gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tbhq 71.4 1 16785233 (1)
    leucine 63 9 17982426 (2), 11457839 (1), 12368292 (1), 15828020 (1) (see all 7)
    glucose 0 1 19424598 (1)
    arginine 0 1 11772997 (1)



    Find genes that share compounds with MAF           About GenesLikeMe



    (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 MAF gene (2 alternative transcripts): 
    NM_001031804.2  NM_005360.4  

    Unigene Cluster for MAF:

    V-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)
    Hs.134859  [show with all ESTs]
    Unigene Representative Sequence: NM_001031804
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000569649 ENST00000326043(uc002ffm.3) ENST00000393350(uc002ffn.3)

    miRNA
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    Block miRNA regulation of human, mouse, rat MAF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAF (see all 179):
    hsa-miR-194* hsa-miR-411* hsa-miR-1273d hsa-miR-200b hsa-miR-510 hsa-miR-130b hsa-miR-374b* hsa-miR-186*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MAF
    Clone
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    OriGene clones in human, mouse for MAF (see all 11)
    OriGene ORF clones in mouse, rat for MAF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MAF (NM_005360)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAF
    Addgene plasmids for MAF 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MAF
    OriGene qSTAR qPCR primer pairs in human, mouse for MAF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAF
      QuantiTect SYBR Green Assays in human, mouse, rat MAF
      QuantiFast Probe-based Assays in human, mouse, rat MAF

    Additional mRNA sequence: 

    AF055376.1 AF055377.1 AF447709.1 AF540388.1 BC038438.1 BC081542.1 X79984.1 

    6 DOTS entries:

    DT.75198308  DT.411673  DT.120689968  DT.91760033  DT.95283736  DT.95283739 

    Selected AceView cDNA sequences (see all 239):

    BM054852 BU681039 AW612473 BQ129204 AV647852 AI017008 AI147301 BE644986 
    AA044658 AW271521 AW611565 CA415083 AA643839 AI041849 AA682986 BF115605 
    AI640131 AI971374 AI420009 AI971950 BU687957 AA496914 BM818377 AA043501 

    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)
    About This Section

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    MAF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTTGCAAC
    MAF Expression
    About this image


    MAF 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
     
     Bone (Muscoskeletal System)    fully expand to see all 17 entries
             Terminal Chondrocytes Endochondral Facial Bones
             Bone Marrow
             Sclerotome cells
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 16 entries
             Terminal Chondrocytes Temporomandibular Joint
             Sclerotome cells
             Intervertebral disc (IVD) annulus fibrosus (AF) cells
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Medulla Oblongata
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             GABAergic Amacrine Cells Inner Nuclear Layer
             Lens
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
    MAF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.134859

    UniProtKB/Swiss-Prot: MAF_HUMAN, O75444
    Tissue specificity: Expressed in endothelial cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MAF: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Notch Signaling Targets in human mouse rat
              Th1/Th2 Response in human mouse rat
              T Helper Cell Differentiation in human mouse rat
              Allergy & Asthma in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MAF
    OriGene qSTAR qPCR primer pairs in human, mouse for MAF
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAF
    QuantiTect SYBR Green Assays in human, mouse, rat MAF
    QuantiFast Probe-based Assays in human, mouse, rat MAF
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAF

    (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 MAF gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Maf1 , 5 avian musculoaponeurotic fibrosarcoma (v-maf) AS42 more1, 5 93.24(n)1
    94.05(a)1
      8 (62.61 cM)5
    171321  NM_001025577.21  NP_001020748.21 
     1156829425 
    chicken
    (Gallus gallus)
    Aves MAF6
    transcription factor Maf
    88(a)
    1 ↔ 1
    11(14099807-14153113)
    lizard
    (Anolis carolinensis)
    Reptilia MAF6
    v-maf avian musculoaponeurotic fibrosarcoma oncoge...
    69(a)
    1 ↔ 1
    LGc(4894704-4938839)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.154772 Transcribed sequence with weak similarity to protein more 71.88(n)    BX711265.1 
    zebrafish
    (Danio rerio)
    Actinopterygii maf2 v-maf musculoaponeurotic fibrosarcoma (avian) oncogene more 86.05(n)   114467  AB006323.2 
    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
    31(a)
    1 → many
    I(10382746-10384222) WBGene00077521


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MAF gene
    NRL2  MAFF2  MAFG2  MAFA2  MAFK2  MAFB2  
    6 SIMAP similar genes for MAF using alignment to 3 protein entries:     MAF_HUMAN (see all proteins):
    MAFG    MAFK    MAFF    MAFB    MAFA    NRL

    Find genes that share paralogs with MAF           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 MAF (see all 265)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0293694
    Cataract 21, multiple types (CTRCT21)4--see VAR_0293692 R P mis40--------
    VAR_0293704
    Cataract 21, multiple types (CTRCT21)4--see VAR_0293702 K R mis40--------
    rs1378638601,2
    --79627269(+) TGTGAA/GGGTGA 2 -- ds50010--------
    rs1138993941,2
    C--79627277(+) TGACCG/ATGATC 2 -- ds50011Minor allele frequency- A:0.00CSA 1
    rs304081,2
    C,F,O,A,H--79627282(-) AGACAG/AATCAT 2 -- ds500132Minor allele frequency- A:0.19MN NS EA NA CSA WA 3293
    rs1434081411,2
    --79627296(+) GTCCAC/TTGCTT 2 -- ds50010--------
    rs758469701,2
    C,F--79627331(+) CAAGGG/TGGTGG 2 -- ds50011Minor allele frequency- T:0.05WA 118
    rs1845579341,2
    --79627392(+) ACTGGC/GGTAAA 2 -- ds50010--------
    rs1894690661,2
    --79627398(+) GTAAAC/GGCACA 2 -- ds50010--------
    rs1814597131,2
    C--79627475(+) TCTGTA/GTTGAA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for MAF (79619740 - 79634622 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MAF:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672388CNV Deletion23128226
    nsv819930CNV Gain19587683
    nsv827768CNV Gain20364138
    nsv833295CNV Gain17160897
    nsv827769CNV Gain20364138

    Human Gene Mutation Database (HGMD): MAF
    Locus Specific Mutation Databases (LSDB): MAF

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAF
    DNA2.0 Custom Variant and Variant Library Synthesis for MAF

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 177075   
    OMIM disorders: 610202  
    UniProtKB/Swiss-Prot: MAF_HUMAN, O75444
  • Note=A chromosomal aberration involving MAF is found in some forms of multiple myeloma (MM).
    Translocation t(14;16)(q32.3;q23) with an IgH locus
  • Cataract 21, multiple types (CTRCT21) [MIM:610202]: An opacification of the crystalline lens of the eye
    that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a
    portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an
    opacity, the greater the impact on visual function. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean
    cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with
    occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal
    nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly
    reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary.
    Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining
    granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and
    is responsible for the designation cerulean cataract. Pulverulent cataracts are characterized by a dust-like,
    'pulverised' appearance of the opacities which can be found in any part of the lens. In some cases cataract is
    associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a
    corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 12 diseases for MAF:    
    About MalaCards
    cataract    plasma cell leukemia    cataract, pulverulent or cerulean, with or without microcornea    cerulean cataract
    nephrogenic adenofibroma    adenofibroma    placental choriocarcinoma    small patella syndrome
    angioimmunoblastic t-cell lymphoma    fibrosarcoma    cataract 4, multiple types    cataract 1, multiple types

    3 diseases from the University of Copenhagen DISEASES database for MAF:
    Nephrogenic adenofibroma     Fibrosarcoma     Multiple myeloma

    Find genes that share disorders with MAF           About GenesLikeMe

    8 Novoseek inferred disease relationships for MAF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microcornea 65.5 2 11772997 (1), 16470690 (1)
    plasma cell leukemia 57 1 15543617 (1)
    congenital cataract 53.4 2 11772997 (1), 16470690 (1)
    erythroleukemia 42.7 1 9047395 (1)
    cataract 35.7 7 11772997 (2), 15199128 (2), 12620964 (1)
    trisomy 15.9 1 15755896 (1)
    tumors 0 2 15755896 (1), 18381641 (1)
    cancer 0 1 18042454 (1)

    Genetic Association Database (GAD): MAF
    Human Genome Epidemiology (HuGE) Navigator: MAF (87 documents)
    Tumor Gene Database (TGDB): MAF

    Export disorders for MAF 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 MAF gene, integrated from 10 sources (see all 155):
    (articles sorted by number of sources associating them with MAF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. (PubMed id 11772997)1, 2, 9 Jamieson R.V.... Black G.C. (Hum. Mol. Genet. 2002)
    2. c-Maf negatively regulates ARE-mediated detoxifying enzyme genes expression and anti-oxidant induction. (PubMed id 12149651)1, 2, 9 Dhakshinamoorthy S. and Jaiswal A.K. (Oncogene 2002)
    3. CD13/APN transcription is regulated by the proto-oncogene c-Maf via an atypical response element. (PubMed id 17897790)1, 2, 9 Mahoney K.M.... Shapiro L.H. (Gene 2007)
    4. A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant 'cerulean cataract' in an Indian family. (PubMed id 16470690)1, 2, 9 Vanita V.... Singh J.R. (Am. J. Med. Genet. A 2006)
    5. Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function. (PubMed id 22494929)1, 4 Rawal R....Homuth G. (Hum. Mol. Genet. 2012)
    6. Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. (PubMed id 21565293)1, 4 Teumer A....VAPlzke H. (Am. J. Hum. Genet. 2011)
    7. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (Diabetologia 2010)
    8. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (Eur. J. Hum. Genet. 2010)
    9. Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. (PubMed id 20712903)1, 4 Morgan A.R....Mitchell E.A. (BMC Med. Genet. 2010)
    10. Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. (PubMed id 19151714)1, 4 Meyre D....Froguel P. (Nat. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4094 HGNC: 6776 AceView: MAF Ensembl:ENSG00000178573 euGenes: HUgn4094
    ECgene: MAF Kegg: 4094 H-InvDB: MAF

    (According to HUGE)
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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 MAF Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAF Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MAF gene:
    Search GeneIP for patents involving MAF

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



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