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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAF Gene

protein-coding   GIFtS: 64
GCID: GC16M079627

V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog

  See 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)
About This Section

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     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, congenital, cerulean type, 4, and plasma cell leukemia, and among its related super-pathways are Calcium signaling in the CD4+ TCR pathway and Leishmaniasis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010498.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MAF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Nucleus (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:

  • UniProtKB: Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by glucocorticoids
  • UniProtKB: Phosphorylated by GSK3 and MAPK13 on serine and threonine residues (Probable). The phosphorylation status can
    serve to either stimulate or inhibit transcription
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75444

  • MAF Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    ENSEMBL proteins: 
     ENSP00000455097   ENSP00000327048   ENSP00000377019  

    Human Recombinant Protein Products for MAF: 
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    Novus Biologicals MAF Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAF 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    MAF for ontologies           About GeneDecksing



    MAF Antibody Products: 
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    Abcam antibodies for MAF
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    ThermoFisher Antibodies for MAF
    LSBio Antibodies in human, mouse, rat for MAF 

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MAF 
    Cloud-Clone Corp. CLIAs for MAF


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR004827 bZIP
     IPR024874 Transciption_factor_Maf
     IPR008917 Euk_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


    MAF for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    MAF for ontologies           About GeneDecksing


    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  homeostasis/metabolism  immune system 
     integument  mortality/aging  nervous system  renal/urinary system  vision/eye 

    MAF for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Maftm1Glm for MAF

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MAF 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 (MIRT003208), kshv-mir-k12-11 (MIRT003207)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MAF
    8/179 QIAGEN miScript miRNA 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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    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    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
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                         Customized lentivirus expression plasmids for stable overexpression of MAF 

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


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MAF About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Calcium signaling in the CD4+ TCR pathway
    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
    5C-MYB transcription factor network
    C-MYB transcription factor network

    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)


    MAF for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MAF

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

    5/33 Interacting proteins for MAF (O754443 ENSP000003270484) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    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): 5/11 biological process terms (GO ID links to tree view) (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-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS9616139

    MAF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MAF for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about MAF

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/179 QIAGEN miScript miRNA 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*
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAF
      QIAGEN 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 

    24/239 AceView cDNA sequences (see all 239):

    AA722840 BU687957 AI420009 AA682986 BU681039 AW772440 AW271521 AA772549 
    BF726289 BQ004498 AI333522 BM818377 AI971950 AI640131 AI041849 BQ129204 
    BM893974 BF115605 AI017008 AI040778 BM718213 CF890813 AA044658 BI494727 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAF expression in normal human tissues (normalized intensities)      MAF embryonic expression: see
    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 
     5/14 selected tissues (see all 14) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 19 entries
             Terminal Chondrocytes Endochondral Facial Bones
             Sclerotome cells
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 19 entries
             Terminal Chondrocytes Temporomandibular Joint
             Sclerotome cells
             Intervertebral disc (IVD) annulus fibrosus (AF) cells
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Medulla Oblongata
             ganglion/cranial/trigeminal V   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Alpha Cells Islets of Langerhans
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Uncategorized (Uncategorized)    fully expand to see all 2 entries
             PureStem Progenitor ES-263

    See MAF Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAF

    SOURCE GeneReport for Unigene cluster: Hs.134859

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

        SABiosciences Expression via Pathway-Focused 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

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MAF gene from 6/11 species (see all 11)    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 94.95(n)1
    97.84(a)1
      8 (62.61 cM)5
    171321  NM_001025577.21  NP_001020748.21 
     1156829425 
    chicken
    (Gallus gallus)
    Aves MAF1 v-maf musculoaponeurotic fibrosarcoma oncogene homolog more 85.59(n)
    87.01(a)
      693248  NM_001044671.1  NP_001038136.1 
    lizard
    (Anolis carolinensis)
    Reptilia MAF6
    v-maf musculoaponeurotic fibrosarcoma oncogene hom...
    67(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 
    worm
    (Caenorhabditis elegans)
    Secernentea maf-16
    Protein MAF-1
    27(a)
    possible ortholog
    I(10382746-10384222)


    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)
    About This Section
    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

    MAF for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/265 SNPs in MAF are shown (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, pulverulent, juvenile-onset, MAF-related (CAPJOM)4--see VAR_0293692 R P mis40--------
    VAR_0293704
    Cataract, congenital, cerulean type, 4 (CCA4)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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 177075    OMIM disorders: --

    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, pulverulent, juvenile-onset, MAF-related (CAPJOM) [MIM:610202]: A form of cataract with nuclear
    or cortical pulverulent opacities. Pulverulent cataracts are characterized by a dust-like, 'pulverised'
    appearance of the opacities which can be found in any part of the lens. The phenotype shows significant intra-
    and interfamilial variation, both in the distribution of the cataract and the degree of opacification. Some
    patients with cataract pulverulent juvenile-onset can present microcornea and bilateral iris colobomas in
    addition to cataract. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cataract, congenital, cerulean type, 4 (CCA4) [MIM:610202]: A cerulean form of congenital cataract.
    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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/37 diseases for MAF (see all 37):    About MalaCards
    cataract, congenital, cerulean type, 4    plasma cell leukemia    nephrogenic adenofibroma    placental choriocarcinoma
    cerulean cataract    angioimmunoblastic t-cell lymphoma    fibrosarcoma    cataract microcornea syndrome
    adenofibroma    cataract    peters anomaly    multiple myeloma
    choriocarcinoma    coloboma    goiter    t-cell leukemia
    nephrotic syndrome    burkitt's lymphoma    hiv type 1    myeloma

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

    MAF for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for MAF gene, integrated from 9 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. (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. (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. (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. (2006)
    5. Meta-analysis of two genome-wide association studies i dentifies four genetic loci associated with thyroid function. (PubMed id 22494929)1, 4 Rawal R....Homuth G. (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. (2011)
    7. Evaluating the discriminative power of multi-trait ge netic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (2010)
    8. Fine mapping and association studies of a high-densit y lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian su bjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (2010)
    9. Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collabora tive study. (PubMed id 20712903)1, 4 Morgan A.R....Mitchell E.A. (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. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4094 HGNC: 6776 AceView: MAF Ensembl:ENSG00000178573 euGenes: HUgn4094
    ECgene: MAF Kegg: 4094 H-InvDB: MAF

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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