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

MAFA Gene

protein-coding   GIFtS: 53
GCID: GC08M144511

v-maf musculoaponeurotic fibrosarcoma oncogene homolog A...
 Explore 7 diseases affiliated with
MAFA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MAFA    

Aliases
for MAFA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog A (Avian)1 2     Transcription Factor RIPE3b12 3
RIPE3b11 2     Transcription Factor MafA2
HMafA1     V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog A3
Pancreatic Beta-Cell-Specific Transcriptional Activator2 3     RIPE3B15

External Ids:    HGNC: 231451   Entrez Gene: 3896922   Ensembl: ENSG000001827597   OMIM: 6103035   UniProtKB: Q8NHW33   

Export aliases for MAFA gene to outside databases

Previous GC identifers: GC08U900345 GC08M144617 GC08M144582 GC08M139764


Summaries
for MAFA gene

(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 MAFA:
MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta
cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 (PubMed 12011435)).(supplied by
OMIM, Mar 2008)

UniProtKB/Swiss-Prot: MAFA_HUMAN, Q8NHW3
Function: Acts as a transcriptional factor. Specifically binds the insulin enhancer element RIPE3b and activates
insulin gene expression. Cooperates synergistically with NEUROD1 and PDX1. Phosphorylation by GSK3 increases its
transcriptional activity and is required for its oncogenic activity. Involved either as an oncogene or as a tumor
suppressor, depending on the cell context

Gene Wiki entry for MAFA


Genomic Views
for MAFA 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MAFA gene promoter:
         E2F-3a   E2F-4   E2F-5   Lmo2   E2F-2   YY1   GATA-2   c-Ets-1   E2F-1   E2F   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAFA


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M144511:  view genomic region     (about GC identifiers)

Start:
 144,501,352 bp from pter      End:
 144,512,576 bp from pter
Size:
 11,225 bases      Orientation:
 minus strand

Proteins
for MAFA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: MAFA_HUMAN, Q8NHW3 (See protein sequence)
Recommended Name: Transcription factor MafA  
Size: 353 amino acids; 36982 Da
Subunit: Binds DNA as a homodimer (Probable). Interacts with NEUROD1, PCAF and PDX1
Subcellular location: Nucleus. Note=Detected in nuclei of pancreas islet beta cells (By similarity)
1 PDB 3D structure from and Proteopedia for MAFA:
4EOT (3D)    

Explore the universe of human proteins at neXtProt for MAFA: NX_Q8NHW3

Post-translational modifications:

  • Ubiquitinated, leading to its degradation by the proteasome1
  • Ser-14 and Ser-65 appear to be the major phosphorylation sites. Phosphorylated by MAPK13 on serine and threonine
    • residues (Probable). Phosphorylation by GSK3 requires prior phosphorylation of Ser-65 by another kinase.
    Phosphorylation proceeds then from Ser-61 to Thr-57, Thr-53 and Ser-49. GSK3-mediated phosphorylation increases its
    transcriptional activity through the recruitment of the coactivator PCAF, is required for its transforming activity
    and leads to its degradation through an ubiquitin/proteasome-dependent pathway1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NHW3

    • MAFA Protein expression data from MOPED and PaxDb:    About this image 
    MAFA Protein Expression
    REFSEQ proteins: NP_963883.2  
    ENSEMBL proteins: 
     ENSP00000328364  

    Human Recombinant Protein Products for MAFA: 
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    OriGene Protein Over-expression Lysate: MAFA
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    Novus Biologicals MAFA Protein
    Novus Biologicals MAFA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MAFA

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12368292

    MAFA for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MAFA

    Protein Domains /
    Families
    for MAFA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MAFA for domains           About GeneDecksing

    5 InterPro domains/families:
     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 Q8NHW3

    ProtoNet protein and cluster: Q8NHW3

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


    UniProtKB/Swiss-Prot: MAFA_HUMAN, Q8NHW3
    Similarity: Belongs to the bZIP family. Maf subfamily
    Similarity: Contains 1 bZIP (basic-leucine zipper) domain


    Function
    for MAFA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAFA_HUMAN, Q8NHW3
    Function: Acts as a transcriptional factor. Specifically binds the insulin enhancer element RIPE3b and activates
    insulin gene expression. Cooperates synergistically with NEUROD1 and PDX1. Phosphorylation by GSK3 increases its
    transcriptional activity and is required for its oncogenic activity. Involved either as an oncogene or as a tumor
    suppressor, depending on the cell context
    Induction: Up-regulated by glucose

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA12368292
    GO:0003700sequence-specific DNA binding transcription factor activity TAS17941991
    GO:0042803protein homodimerization activity TAS12368292
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046982protein heterodimerization activity NAS12368292
         
    MAFA for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Mafa):
     endocrine/exocrine gland  growth/size  homeostasis/metabolism  no phenotypic analysis  normal 
     renal/urinary system 

    MAFA for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MAFA 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MAFA
    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate MAFA (see all 13):
    hsa-miR-548p hsa-miR-576-5p hsa-miR-4328 hsa-miR-429 hsa-miR-4299 hsa-miR-877* hsa-miR-153 hsa-miR-942
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MAFA (see all 4)
    OriGene shRNA RFP: MAFA
    OriGene siRNA: MAFA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAFA
    Sirion Biotech Custom design and validation of potent shRNA sequences against MAFA 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of MAFA 
    Sirion Biotech Customized adenovirus for potent knockdown of MAFA

    Clone
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    GenScript: all cDNA clones in your preferred vector: MAFA (NM_201589)
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    Cell Line
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for MAFA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Type II diabetes mellitus
    		Type II diabetes mellitus1.00
    		Type II diabetes mellitus0.35
    		Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    2Tacrolimus/Cyclosporine Pathway, Pharmacodynamics
    		Tacrolimus/Cyclosporine Pathway, Pharmacodynamics1.00
    3Regulation of beta-cell development
    		Maturity onset diabetes of the young0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for MAFA 
        Type II diabetes mellitus

    2 PharmGKB Pathways for MAFA
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
    Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for MAFA):
        Type II diabetes mellitus
    Maturity onset diabetes of the young


    MAFA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MAFA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for MAFA (Q8NHW33 ENSP000003283644) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEUROD1Q135623, ENSP000002951084I2D: score=2 STRING: ENSP00000295108
    PDX1P529453, ENSP000003704214I2D: score=2 STRING: ENSP00000370421
    MAPK1P284823, ENSP000002158324I2D: score=1 STRING: ENSP00000215832
    MAFO754443, ENSP000003270484I2D: score=1 STRING: ENSP00000327048
    MAPK14Q165393, ENSP000002297944I2D: score=1 STRING: ENSP00000229794
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent TAS12368292
    GO:0007263nitric oxide mediated signal transduction IDA17941991
    GO:0009749response to glucose stimulus IDA12368292
    GO:0030073insulin secretion IDA17941991

    MAFA for ontologies           About GeneDecksing



    Drugs & Compounds
    for MAFA gene

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

    MAFA for compounds           About GeneDecksing

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

    Browse Tocris compounds for MAFA
    1 Novoseek chemical compound relationship for MAFA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 41.6 39 8613527 (4), 17682063 (4), 12368292 (3), 8289826 (2) (see all 9)

    Search CenterWatch for drugs/clinical trials and news about MAFA 

    Transcripts
    for MAFA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for MAFA gene: 
    NM_201589.3  

    Unigene Cluster for MAFA:

    V-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian)
    Hs.521914  [show with all ESTs]
    Unigene Representative Sequence: NM_201589
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000528185 ENST00000333480(uc003yyc.2)

    miRNA
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    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate MAFA (see all 13):
    hsa-miR-548p hsa-miR-576-5p hsa-miR-4328 hsa-miR-429 hsa-miR-4299 hsa-miR-877* hsa-miR-153 hsa-miR-942
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MAFA (see all 4)
    OriGene shRNA RFP: MAFA
    OriGene siRNA: MAFA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAFA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: MAFA (NM_201589)
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    Primer
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    2 DOTS entries:

    DT.422260  DT.97838907 

    1 AceView cDNA sequence:

    AI761030 

    GeneLoc Exon Structure


    Expression
    for MAFA gene

    (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

    MAFA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCGGTGCGCG
    MAFA Expression
    About this image

    MAFA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PancreasDorsal Pancreatic BudImmature Beta Progenitor CellsPancreas
    PancreasIslets of LangerhansMature Beta CellsPancreas
    PancreasVentral Pancreatic BudImmature Beta Progenitor CellsPancreas
    PancreasDorsal Pancreatic BudEarly Beta Progenitor CellsPancreas
    PancreasDorsal Pancreatic BudIntermediate Beta Progenitor CellsPancreas
    PancreasVentral Pancreatic BudEarly Beta Progenitor CellsPancreas
    PancreasVentral Pancreatic BudIntermediate Beta Progenitor CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    beta-like cells (Derivation of beta c...)

    See MAFA Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.521914
        SABiosciences Expression via Pathway-Focused PCR Array including MAFA: 
              Terminal Differentiation Markers in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for MAFA gene

    (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 MAFA gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Mafa1 , 5 v-maf musculoaponeurotic fibrosarcoma oncogene family, more1, 5 91.93(n)1
    95.16(a)1    		   15 (34.82 cM)5
    3784351  NM_194350.11  NP_919331.11 
     757468435 
    chicken
    (Gallus gallus)    		 Aves MAFA1 v-maf musculoaponeurotic fibrosarcoma oncogene homolog more 76.81(n)
    83.22(a)    		   395881  NM_205025.1  NP_990356.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 49(a)
    		 possible ortholog
    		 LGc(4938213-4938791)
    zebrafish
    (Danio rerio)    		 Actinopterygii mafl2 v-maf musculoaponeurotic fibrosarcoma (avian) oncogene more 82.63(n)   114468  AB006324.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta tj6
    		 traffic jam
    		 16(a)
    		 1 → many
    		 2L(19464267-19467758)
    worm
    (Caenorhabditis elegans)    		 Secernentea maf-16
    		 --
    		 24(a)
    		 possible ortholog
    		 I(10382737-10384213)


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

    Paralogs
    for MAFA gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MAFA gene
    NRL2  MAFF2  MAFG2  MAFK2  MAF2  MAFB2  
    6 SIMAP similar genes for MAFA using alignment to 2 protein entries:     MAFA_HUMAN (see all proteins):
    MAFK    MAFG    MAFF    MAFB    MAF    NRL

    MAFA for paralogs           About GeneDecksing



    Genomic Variants
    for MAFA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/71 NCBI SNPs in MAFA are shown (see all 71)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs559810351,2
    		C,F--144509784(+) GGCCCT/CGTGAA 1 -- ds50012Minor allele frequency- C:0.35NA EA 240
    rs759346961,2
    		F--144509804(+) CTGGGG/TTACTG 1 -- ds50011Minor allele frequency- T:0.07WA 118
    rs104480871,2
    		C--144509865(+) AAGGGC/TAGGCT 1 -- ds500111Minor allele frequency- T:0.03NA WA CSA EA 372
    rs1869456271,2
    		--144510010(+) CCCTCA/GGCCTT 1 -- ds50010--------
    rs22809301,2
    		C,F,H--144510023(-) GCCCTC/TGGCAA 1 -- ds500116Minor allele frequency- T:0.21NS EA NA 2214
    rs104480881,2
    		C--144510059(+) GGTGCG/AGGCCG 1 -- ds500111Minor allele frequency- A:0.02NA WA CSA EA 373
    rs1396383241,2
    		--144510103(+) TCCTG-/CCGTCACC
    CAGGGCCCGT    CCGTC     		1 -- ds50010--------
    rs22809291,2
    		C,F--144510132(-) TGGCCC/GTGGGT 1 -- ds500114Minor allele frequency- G:0.16EA NA WA CSA 2234
    rs1463834871,2
    		--144510190(+) AACACA/GGCAAA 1 -- ds50010--------
    rs1916930971,2
    		--144510231(+) GCGGTA/GACTTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MAFA (144501352 - 144512576 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MAFA
         2 CNVs: 30300 30299

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    Disorders / Diseases
    for MAFA gene

    (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.)
    About This Section
    MAFA for disorders           About GeneDecksing

    OMIM gene information: 610303    OMIM disorders: --

    7 diseases for MAFA:    About MalaCards
    pancreatitis    fibrosarcoma    maturity-onset diabetes of the young    insulinoma
    hyperglycemia    hepatitis    neuronitis

    3 Novoseek disease relationships for MAFA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fibrosarcoma 61.9 5 19785038 (1), 18778246 (1), 17131142 (1), 17149590 (1) (see all 5)
    insulinoma 45 1 14765989 (1)
    hyperglycemia 29.9 1 19393272 (1)

    Human Genome Epidemiology (HuGE) Navigator: MAFA (3 documents)

    Export disorders for MAFA gene to outside databases

    Publications
    for MAFA gene

    (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 MAFA gene, integrated from 9 sources (see all 49):
    (articles sorted by number of sources associating them with MAFA)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. MafA is a glucose-regulated and pancreatic beta-cell-specific transcriptional activator for the insulin gene. (PubMed id 12368292)1, 2, 9 Kataoka K.... Handa H. (2002)
    2. Synergistic activation of the insulin gene promoter by the beta-cell enriched transcription factors MafA, Beta2, and Pdx1. (PubMed id 15993959)1, 2, 9 Aramata S.... Kataoka K. (2005)
    3. GSK-3-mediated phosphorylation enhances Maf-transforming activity. (PubMed id 18042454)1, 2 Rocques N....Pouponnot C. (2007)
    4. The islet beta cell-enriched MafA activator is a key regulator of insulin gene transcription. (PubMed id 15665000)1, 2 Zhao L....Stein R. (2005)
    5. Identification of beta-cell-specific insulin gene transcription factor RIPE3b1 as mammalian MafA. (PubMed id 12011435)1, 2 Olbrot M.... Sharma A. (2002)
    6. Phosphorylation of MafA is essential for its transcriptional and biological properties. (PubMed id 11416124)1, 2 Benkhelifa S....Felder-Schmittbuhl M.-P. (2001)
    7. Role of MafA in pancreatic beta-cells. (PubMed id 19393272)1, 9 Kaneto H....Matsuhisa M. (2009)
    8. FoxA2, Nkx2.2, and PDX-1 regulate islet beta-cell-specific mafA expression through conserved sequences located between base pairs -8118 and -7750 upstream from the transcription start site. (PubMed id 16847327)1, 9 Raum J.C....Stein R. (2006)
    9. Mutations in MAFA and IAPP are not a common cause of monogenic diabetes. (PubMed id 19573128)1, 9 Garin I....Perez de Nanclares G. (2009)
    10. PDX-1 functions as a master factor in the pancreas. (PubMed id 18508668)1, 9 Kaneto H....Matsuhisa M. (2008)

    External Searches for MAFA gene

    (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)

    Genome Databases showing MAFA gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 389692 HGNC: 23145 AceView: MAFA Ensembl:ENSG00000182759 euGenes: HUgn389692
    ECgene: MAFA Kegg: 389692 H-InvDB: MAFA

    Other Databases showing MAFA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MAFA gene

    (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 MAFA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAFA Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for MAFA gene

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

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



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