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MAF Gene

protein-coding   GIFtS: 60

GC16M078185
v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)
(Previous name: v-maf musculoaponeurotic fibrosarcoma (avian) oncogene homolog )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for MAF

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
C-Maf 3
MGC71685 2
OTTHUMP00000196745 2
c-MAF 1, 2
Descriptions
Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene 2
Proto-oncogene c-maf 3
T lymphocyte c-maf long form 2
V-maf musculoaponeurotic fibrosarcoma oncogene homolog 2, 3
c-maf proto-oncogene 2
v-maf musculoaponeurotic fibrosarcoma (avian) oncogene
homolog 1
v-maf musculoaponeurotic fibrosarcoma oncogene homolog
(avian) 2
External Ids
HGNC: 67761
Entrez Gene: 40942
UniProtKB: O754443
Ensembl: ENSG000001785737
Search outside databases for aliases for MAF gene

Previous GC identifers: GC16M070559 GC16M080589 GC16M079366 GC16M079407

Summaries
for MAF

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 reponse 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

Genomic Location
for MAF

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the MAF gene  

Entrez Gene cytogenetic band: 16q22-q23   Ensembl cytogenetic band:  16q23.1   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)

GeneLoc gene densities for chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M078185:     (about GC identifiers)

Start:
 78,185,729 bp from pter
End:
 78,192,112 bp from pter
Size:
 6,384 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000016.8  NT_010498.15  

Proteins
for MAF

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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 take place weakly in normal T cells and
increases in T cells following stimulation through the TCR engagement. Interacts with MYB; the
ternary complexe 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   

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 posphorylation
    status can serve to either stimulate or inhibit transcription1
  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000327048 ENSP00000377019 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (c-Maf )
    Human Recombinant Proteins from Abnova (MAF)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785 chromatin TAS9616139
    GO:0005634 nucleus IEA--
    About this table

    Antibodies for MAF: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for MAF
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (c-Maf ), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (MAF)
    Novus Biologicals Antibodies for MAF

    Assays for MAF: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for MAF

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro domains/families:
     IPR004827 TF_bZIP
     IPR013592 Maf_TF_N
     IPR004826 TF_Maf


       GeneDecks  MAF for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry O75444

    ProtoNet protein and cluster: O75444

    2 Blocks protein families:
    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 domain

    Gene Function
    for MAF

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (MAF)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MAF)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_005360

                  Applied Biosystems Silencer® siRNAs for MAF

                  Sigma-Aldrich siRNA for MAF  
                         Sigma-Aldrich shRNA for MAF  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001031804
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001031804
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001031804 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_005360

    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 reponse 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

    9 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Maf):

    behavior/neurologicalcraniofacialgrowth/sizehomeostasis/metabolismimmune system
    lethality-postnatallethality-prenatal/perinatalrenal/urinary systemvision/eye

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700 transcription factor activity IEA--
    GO:0003702 RNA polymerase II transcription factor activity TAS9616139
    GO:0043565 sequence-specific DNA binding IEA--
    About this table

    Pathways & Interactions
    for MAF

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for MAF (Maps provided by GeneGo):
     Transcription regulation of aminoacid metabolism

       GeneDecks  MAF for the pathways selected above  
    About GeneDecksing

    3 Sigma-Aldrich "Your Favorite Gene" Pathways for  MAF  (Your Favorite Gene powered by Ingenuity) 
     NRF2-mediated Oxidative Stress Response
     IL-12 Signaling and Production in Macrophages
     Xenobiotic Metabolism Signaling

       GeneDecks  MAF for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  MAF 


    5/64 Interacting proteins for MAF (ENSP000003270483) via UniProtKB, MINT, and/or STRING (see all 64 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL4ENSP000002314493STRING (score=.995)
    C16orf35ENSP000002623133STRING (score=.993)
    BACH2ENSP000003456423STRING (score=.985)
    NFE2ENSP000003124363STRING (score=.977)
    FOSENSP000003062453STRING (score=.972)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0006366 transcription from RNA polymerase II promoter TAS9616139
    GO:0045786 negative regulation of cell cycle IEA--
    About this table

    Drugs & Compounds
    for MAF

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for MAF
    2 Novoseek chemical compound relationships for MAF gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 63.87 9 17982426 (2), 11457839 (1), 12368292 (1), 15828020 (1) (see all 7)
    glucose 0.00 1 19424598 (1)
    About this table


    Transcripts
    for MAF

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (MAF)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MAF)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_005360

                  Sigma-Aldrich siRNA for MAF  
                         Sigma-Aldrich shRNA for MAF  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001031804  NM_005360  

    REFSEQ mRNAs for MAF gene (2 alternative transcripts): 

    NM_001031804.2   NM_005360.4   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001031804  NM_005360  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001031804
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001031804
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001031804 

    Additional cDNA 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 ):

    BE672643 BF431302 AA722840 BE465670 AI333522 BF222133 AA333616 AA342150 
    AI040778 AA643839 BM054852 AW612583 AI017008 AA772549 AI971950 AW772440 
    BU681039 CA415083 AA043501 BU687957 BM818377 AV647852 AI971374 AI147301 

    highest scoring ESTs for MAF:

    AA778124 AF055376 AA262966 AA506200 AA972294 AA991195 AF055377 AI017008 AI041849 AI075234 

    Unigene Cluster for MAF:

    V-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)
    Hs.134859  [show with all ESTs]
    Unigene Representative Sequence: NM_001031804


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000326043  ENST00000393350  

    Expression
    for MAF

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    MAF expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for MAF

    1 / 2 / 3

    12 probe-sets matching MAF gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		41504_s_at2, 3 U95-A 1 1.00 1.00 0.93 1.51 AF055376 1.00 1.00 1.00 1

    		82292_at2, 3 U95-E 1 1.00 1.00 0.59 0.59 AI091435 0.60 1.00 0.82 1
    90055_s_at2, 3 U95-D 1 1.00 1.00 0.96 1.02 AA778124 1.00 1.00 1.00 1
    41505_r_at2, 3 U95-A 1 1.00 1.00 0.89 1.02 AF055376 1.00 1.00 1.00 1
    61301_f_at2, 3 U95-C 1 0.38 1.00 0.36 0.92 AW025447 0.60 1.00 0.82 1

    		209347_s_at2, 3 U133-A 1 1.00 1.00 -- -- BF508646 0.80 1.00 0.91 1

    		206363_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005360 0.60 1.00 0.82 1

    		209348_s_at2, 3 U133-A 1 1.00 1.00 -- -- AF055376 1.00 1.00 1.00 1

    		209347_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		206363_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		209348_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    		1566324_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  MAF for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TGCTTGCAAC

    SOURCE GeneReport for Unigene cluster: Hs.134859

    Expression variation in blood from EXPOLDB for MAF

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

    Orthologs
    for MAF

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for MAF gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    chimpanzee
    (Pan troglodytes)    		 MAF1   -- v-maf musculoaponeurotic fibrosarcoma oncogene homolog more 99.83(n)
    100(a)    		 454260  XM_511123.2  XP_511123.2 
    rat
    (Rattus norvegicus)    		 Maf1   -- v-maf musculoaponeurotic fibrosarcoma oncogene homolog more 94.67(n)
    97.29(a)    		 54267  NM_019318.1  NP_062191.1 
    mouse
    (Mus musculus)    		 Maf1, 5 8 (61.00 cM)5
    		 avian musculoaponeurotic fibrosarcoma (v-maf) AS42 more1, 5 94.95(n)1
    97.84(a)1    		 171321  NM_001025577.21  NP_001020748.21 
     AC1133015  AK0192555  (see all 22)
    chicken
    (Gallus gallus)    		 MAF1   -- v-maf musculoaponeurotic fibrosarcoma oncogene homolog more 85.59(n)
    87.01(a)    		 693248  NM_001044671.1  NP_001038136.1 
    zebrafish
    (Danio rerio)    		 maf2   -- v-maf musculoaponeurotic fibrosarcoma (avian) oncogene more 86.05(n) 114467  AB006323.2 
    About this table        Species with no ortholog for MAF

    ENSEMBL Gene Tree for MAF

    Paralogs
    for MAF

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for MAF gene
    NRL2  MAFA2  MAFB2  

    SNPs/Variants
    for MAF

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/83 NCBI SNPs in MAF are shown (see all 83 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 68)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 16 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    rs304121,2
    		A,C,F,H78185673(-) AGACCC/GGTAGG 2 -- ut318Minor allele frequency- G:0.21EA NA MN EU WA 656
    rs22880641,2
    		A,C,F,H78192641(-) GCTCAG/CGGAAG 2 -- ng31 trp35Minor allele frequency- C:0.41EA EU WA 1908
    rs22879741,2
    		C,F,H78185682(-) GTTTCA/GTAGAG 2 -- ut319Minor allele frequency- G:0.40EA EU WA 2330
    rs37435971,2
    		F,H78186761(-) GGTTGT/CGTTTG 2 -- ut31 int15Minor allele frequency- C:0.03EA EU WA 1896
    rs10467291,2
    		A,F78189416(-) AAAATG/CCTCAT 2 -- int1 ut314Minor allele frequency- C:0.41NA EA MN 436
    rs409651,2
    		A,F78186624(-) CCACAC/TTTAAT 2 -- int1 ut313Minor allele frequency- T:0.12NA MN 256
    rs304141,2
    		C,F78187827(+) TTTAAT/CGAGGT 2 -- ut31 int18Minor allele frequency- C:0.07EA NA MN 596
    rs40817521,2
    		A,C78191388(-) GCTCAC/TCCGCT 2 -- ut51 ese30--------
    rs22880651,2
    		A,C78192450(-) AGCAAA/GCCGCC 2 -- ng310--------
    rs10469571,2
    		H78190242(-) GTGAGC/AAGCGG 2 R/S mis1 ese35Minor allele frequency- A:0.00MN EU EA WA 588
    About this table

    HapMap Linkage Disequilibrium images for MAF (up to first 250kb)

    Disorders & Mutations
    for MAF

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 177075   disorders: 610202  610202  

    UniProtKB/Swiss-Prot: MAF_HUMAN, O75444

  • 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
  • Defects in MAF are the cause of juvenile-onset pulverulent cataract [MIM:610202]. Cataract
    is a partial or complete ocular opacity that affects the crystalline lens or its capsule, leading
    to impaired vision or blindness
  • Defects in MAF are the cause of congenital cerulean cataract 4 (CCA4) [MIM:610202]. CCA4
    is a form of autosomal dominant congenital cataract (ADCC). Cerulean cataracts have peripheral
    bluish and white opacifications in concentric layers with occasional central lesions arranged
    radially. Although the opacities may be observed during fetal development and childhood, usually
    visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary

    • 8 Novoseek disease relationships for MAF gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    microcornea 66.89 2 11772997 (1), 16470690 (1)
    plasma cell leukemia 58.14 1 15543617 (1)
    congenital cataract 54.62 2 11772997 (1), 16470690 (1)
    erythroleukemia 43.42 1 9047395 (1)
    cataract 37.13 7 11772997 (2), 15199128 (2), 12620964 (1)
    trisomy 17.18 1 15755896 (1)
    cancer 0.00 1 18042454 (1)
    tumors 0.00 2 15755896 (1), 18381641 (1)
    About this table

    Human Gene Mutation Database: MAF
    Tumor Gene Database: MAF

    Medical News
    for MAF

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for MAF

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/115 PubMed articles for MAF gene (see all 115 ):

    Search for MAF

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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

    Genome Databases showing MAF

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 4094 HGNC: 6776 AceView: MAF Ensembl:ENSG00000178573 euGenes: HUgn4094
    ECgene: MAF H-InvDB: MAF

    Other Databases showing MAF

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing MAF

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for MAF Genetics and Cytogenetics in Oncology and Haematology

    Licensable Technologies
    for MAF

    (Available from WIS Yeda, Salk, Tufts)
    About This Section

    		  --

    Services
    for MAF

    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for MAF:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
    		  Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
      Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for MAF-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for MAF Antibodies for MAF
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for MAF Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
     Antibodies   Primer Pairs  
     Cell Culture Products   ELISAs  
     Flow Cytometry Kits   Protease Activity Assays & Reagents  
     Cell Selection/Detection Kits & Reagents   ELISA/Assay Development Kits & Reagents  
     Multiplex/Array Assay Kits & Reagents   ELISpot Kits & Development Modules  
     Recombinant & Natural Proteins  

     Recombinant Proteins (MAF)
     Antibodies (MAF)
     Chimera RNAi (MAF)
     Custom Service for Mouse Mab
     Custom Service for Rabbit Pab from Full-length Protein
      
     Search for Antibodies & Assays

     Recombinant Proteins
    (c-Maf )
     Antibodies (c-Maf )
     Search OriGene for MAF
     Search Tocris compounds for MAF




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for MAF

    GeneCards Homepage    -    Last full update: 2 Jul 2009        Incremental update: 13 Oct 2009

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