Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MAFA Gene

protein-coding   GIFtS: 53
GCID: GC08M144511

V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog...

  See MAFA-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

TryGeneCards Plus

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog A1 2     hMafA2
Pancreatic Beta-Cell-Specific Transcriptional Activator2 3     Transcription Factor MafA2
Transcription Factor RIPE3b12 3     V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog A3
RIPE3b12     RIPE3B15

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

Export aliases for MAFA gene to outside databases

Previous GC identifers: GC08U900345 GC08M144617 GC08M144582 GC08M139764


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

TryGeneCards Plus

Entrez Gene summary for MAFA Gene:
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)

GeneCards Summary for MAFA Gene:
MAFA (v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A) is a protein-coding gene. Diseases associated with MAFA include fibrosarcoma, and monogenic diabetes. 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: 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 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008046.17  
Regulatory elements:
   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 Chromatin IP Primers for MAFA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
144,512,602 bp from pter
Size:
11,251 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.)
About This Section

TryGeneCards Plus

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. Interacts with NEUROD1, PCAF and PDX1
1 PDB 3D structure from and Proteopedia for MAFA:
4EOT (3D)    

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

Explore proteomics data for MAFA at MOPED

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 a ubiquitin/proteasome-dependent pathway1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_963883.2  
    ENSEMBL proteins: 
     ENSP00000328364  
    Reactome Protein details: Q8NHW3

    MAFA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MAFA
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MAFA
    GenScript Custom Purified and Recombinant Proteins Services for MAFA
    Novus Biologicals MAFA Protein
    Novus Biologicals MAFA Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAFA

     
    Search eBioscience for Proteins for MAFA 

    MAFA Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MAFA
    Novus Biologicals MAFA Antibodies
    Search for Antibodies for MAFA at Abcam
    Cloud-Clone Corp. Antibodies for MAFA
    Search ThermoFisher Antibodies for MAFA
    LSBio Antibodies in human, mouse, rat for MAFA

    MAFA Assay Products:

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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    Selected InterPro protein domains (see all 6):
     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 Q8NHW3

    ProtoNet protein and cluster: Q8NHW3

    2 Blocks protein domains:
    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


    Find genes that share domains with MAFA           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.)
    About This Section

    TryGeneCards Plus

    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA12368292
    GO:0003700sequence-specific DNA binding transcription factor activity TAS12368292
    GO:0042803protein homodimerization activity TAS12368292
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046982protein heterodimerization activity NAS12368292
         
    Find genes that share ontologies with MAFA           About GenesLikeMe


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

    Find genes that share phenotypes with MAFA           About GenesLikeMe

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

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

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  TGCTGACTCA 

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat MAFA using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for MAFA
    Predesigned siRNA for gene silencing in human, mouse, rat MAFA

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

    Clone
    Products:
         
    OriGene clones in human, mouse for MAFA (see all 6)
    OriGene ORF clones in mouse, rat for MAFA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAFA (NM_201589)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAFA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAFA

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MAFA
    Browse ESI BIO Cell Lines and PureStem Progenitors for MAFA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAFA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MAFA_HUMAN, Q8NHW3: Nucleus. Note=Detected in nuclei of pancreas islet beta cells (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12368292

    Find genes that share ontologies with MAFA           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).
    About This Section

    TryGeneCards Plus

    SuperPaths for MAFA About    
    See pathways by source

    SuperPathContained pathways About
    1Type II diabetes mellitus
    Type II diabetes mellitus0.38
    Type II diabetes mellitus0.35
    Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    2Regulation of beta-cell development
    Regulation of beta-cell development0.64
    Maturity onset diabetes of the young0.61
    Regulation of gene expression in beta cells0.64
    3L1CAM interactions
    Developmental Biology0.63
    4Tacrolimus/Cyclosporine Pathway, Pharmacodynamics
    Tacrolimus/Cyclosporine Pathway, Pharmacodynamics


    Find genes that share SuperPaths with MAFA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MAFA
        Type II diabetes mellitus

    1 Reactome Pathway for MAFA
        Regulation of gene expression in beta cells

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including MAFA: 
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MAFA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for MAFA (Q8NHW33 ENSP000003283644) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    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): Selected biological process terms (see all 7):    About this table

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

    Find genes that share ontologies with MAFA           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)
    About This Section

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

    Browse Tocris compounds for MAFA

    1 Novoseek inferred 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)



    Find genes that share compounds with MAFA           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 )
    About This Section

    TryGeneCards Plus

    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
    Products:
         
    Block miRNA regulation of human, mouse, rat MAFA using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
         
    OriGene RNAi products in human, mouse, rat for MAFA
    Predesigned siRNA for gene silencing in human, mouse, rat MAFA
    Clone
    Products:
         
    OriGene clones in human, mouse for MAFA (see all 6)
    OriGene ORF clones in mouse, rat for MAFA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAFA (NM_201589)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAFA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAFA
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MAFA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAFA
      QuantiTect SYBR Green Assays in human, mouse, rat MAFA
      QuantiFast Probe-based Assays in human, mouse, rat MAFA

    2 DOTS entries:

    DT.422260  DT.97838907 

    1 AceView cDNA sequence:

    AI761030 

    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

    TryGeneCards Plus

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


    MAFA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 8 entries
             Immature Beta Progenitor Cells Ventral Pancreatic Bud
             Beta-like cells
     
     Skeletal Muscle (Muscoskeletal System)
    MAFA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAFA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521914
        Pathway & Disease-focused RT2 Profiler PCR Array including MAFA: 
              Terminal Differentiation Markers in human mouse rat

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAFA

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for MAFA gene from Selected species (see all 12)    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 88.13(n)1
    88.89(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 72.61(n)
    77.62(a)
      395881  NM_205025.1  NP_990356.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mafa1 v-maf avian musculoaponeurotic fibrosarcoma oncogene more 72.78(n)
    75.43(a)
      613050  NM_001032304.1  NP_001027475.1 
    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
    21(a)
    1 → many
    2L(19464267-19467758)
    worm
    (Caenorhabditis elegans)
    Secernentea maf-16
    Protein MAF-1 (maf-1) mRNA, complete cds
    28(a)
    1 → many
    I(10382746-10384222) WBGene00077521


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    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

    Find genes that share paralogs with MAFA           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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for MAFA (see all 94)    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
    C--144510103(+) TCCTG-/CCGTCACC
    CAGGGCCCGT
    CCGTC
    1 -- cds10--------
    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 - 144512602 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for MAFA (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668424CNV Deletion23128226
    dgv7920n71CNV Loss21882294
    nsv891682CNV Loss21882294
    dgv7924n71CNV Loss21882294
    dgv7927n71CNV Loss21882294
    nsv891687CNV Loss21882294
    dgv7929n71CNV Loss21882294
    dgv7928n71CNV Loss21882294
    dgv7925n71CNV Loss21882294
    nsv891675CNV Loss21882294

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

    (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

    TryGeneCards Plus
    OMIM gene information: 610303    OMIM disorders: --

    3 diseases for MAFA:    
    About MalaCards
    fibrosarcoma    monogenic diabetes    hyperglycemia


    Find genes that share disorders with MAFA           About GenesLikeMe

    3 Novoseek inferred 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)

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

    Export disorders for MAFA 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

    TryGeneCards Plus

    PubMed articles for MAFA gene, integrated from 10 sources (see all 52):
    (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. (J. Biol. Chem. 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. (Biochim. Biophys. Acta 2005)
    3. Mutations in MAFA and IAPP are not a common cause of monogenic diabetes. (PubMed id 19573128)1, 4, 9 Garin I....Perez de Nanclares G. (Diabet. Med. 2009)
    4. GSK-3-mediated phosphorylation enhances Maf-transforming activity. (PubMed id 18042454)1, 2 Rocques N.... Pouponnot C. (Mol. Cell 2007)
    5. The islet beta cell-enriched MafA activator is a key regulator of insulin gene transcription. (PubMed id 15665000)1, 2 Zhao L.... Stein R. (J. Biol. Chem. 2005)
    6. Identification of beta-cell-specific insulin gene transcription factor RIPE3b1 as mammalian MafA. (PubMed id 12011435)1, 2 Olbrot M.... Sharma A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Phosphorylation of MafA is essential for its transcriptional and biological properties. (PubMed id 11416124)1, 2 Benkhelifa S....Felder-Schmittbuhl M.-P. (Mol. Cell. Biol. 2001)
    8. Role of MafA in pancreatic beta-cells. (PubMed id 19393272)1, 9 Kaneto H....Matsuhisa M. (Adv. Drug Deliv. Rev. 2009)
    9. 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. (Mol. Cell. Biol. 2006)
    10. PDX-1 functions as a master factor in the pancreas. (PubMed id 18508668)1, 9 Kaneto H....Matsuhisa M. (Front. Biosci. 2008)

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

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 389692 HGNC: 23145 AceView: MAFA Ensembl:ENSG00000182759 euGenes: HUgn389692
    ECgene: MAFA Kegg: 389692 H-InvDB: MAFA

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for MAFA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MAFA 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

    TryGeneCards Plus
    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



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

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for MAFA  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for MAFA  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for MAFA  
     OriGene qSTAR qPCR primer pairs in human, mouse for MAFA   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for MAFA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MAFA   OriGene Custom Protein Services for MAFA  

     
     
     Block miRNA regulation of human, mouse, rat MAFA using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MAFA
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAFA Predesigned siRNA for gene silencing in human, mouse, rat MAFA
     QuantiFast Probe-based Assays in human, mouse, rat MAFA QuantiTect SYBR Green Assays in human, mouse, rat MAFA
     PCR Arrays including human, mouse, rat MAFA Search Chromatin IP Primers for MAFA
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAFA  GeneGlobe Interaction Network for MAFA
     Regulatory tfbs in MAFA promoter
     GenScript Custom Purified and Recombinant Proteins Services for MAFA GenScript cDNA clones with any tag delivered in your preferred vector for MAFA
     GenScript Custom Assay Services for MAFA GenScript Custom overexpressing Cell Line Services for MAFA
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for MAFA
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     MAFA antibodies
     MAFA proteins
     MAFA lysates
     Search for Antibodies for MAFA at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for MAFA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for MAFA
     Antibodies for MAFA
     ELISAs for MAFA
     CLIAs for MAFA



     Browse ESI BIO Cell Lines and PureStem Progenitors for MAFA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAFA
     Browse SwitchGear 3'UTR luciferase reporter plasmids for MAFA
     SwitchGear Promoter luciferase reporter plasmids for MAFA
     Search ThermoFisher Antibodies for MAFA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAFA
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAFA
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAFA
     LSBio Antibodies in human, mouse, rat for MAFA
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for MAFA
      Search eBioscience for proteins for MAFA
      Search eBioscience for elisas for MAFA
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MAFA gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4