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] See more...

Aliases for MAFA Gene

Aliases for MAFA Gene

  • MAF BZIP Transcription Factor A 2 3 5
  • V-Maf Avian Musculoaponeurotic Fibrosarcoma Oncogene Homolog A 2 3
  • Pancreatic Beta-Cell-Specific Transcriptional Activator 3 4
  • Transcription Factor MafA 3 4
  • RIPE3b1 Factor 3 4
  • RIPE3b1 2 3
  • HMafA 2 3
  • V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog A 4
  • Transcription Factor RIPE3b1 3
  • INSDM 3
  • MAFA 5

External Ids for MAFA Gene

Previous GeneCards Identifiers for MAFA Gene

  • GC08U900345
  • GC08M144617
  • GC08M144582
  • GC08M144511
  • GC08M139764

Summaries for MAFA Gene

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 (MAF BZIP Transcription Factor A) is a Protein Coding gene. Diseases associated with MAFA include Insulinomatosis And Diabetes Mellitus and Fibrosarcoma. Among its related pathways are Regulation of beta-cell development and Type II diabetes mellitus. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is MAF.

UniProtKB/Swiss-Prot Summary for MAFA Gene

  • Transcription factor that activates insulin gene expression (PubMed:15993959, PubMed:12011435). Acts synergistically with NEUROD1/BETA2 and PDX1 (PubMed:15993959). Binds the insulin enhancer C1/RIPE3b element (PubMed:12011435). Binds to consensus TRE-type MARE 5'-TGCTGACTCAGCA-3' DNA sequence (PubMed:23148532, PubMed:29339498).

Gene Wiki entry for MAFA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAFA Gene

Genomics for MAFA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAFA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J143428 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 608.1 +0.8 815 3.9 SP1 GATAD2A CTCF RFX1 SOX13 SMAD2 TARDBP JUND FOXA1 LARP7 MAFA lnc-MAFA-1 lnc-MAFA-2 VPS28 CPSF1 ZNF623 JRK ADCK5 ZNF707 SLC52A2
GH08J143423 Enhancer 0.8 Ensembl ENCODE 7.1 +8.1 8131 1.6 HNRNPL ZBTB33 TEAD4 ZNF341 ESRRA ZFHX2 SIN3A EZH2 PRDM10 GLIS1 ENSG00000253931 ENSG00000254859 MAFA NAPRT ENSG00000254812 MAFA-AS1 lnc-MAFA-1 lnc-MAFA-2 RHPN1
GH08J143427 Enhancer 0.7 ENCODE dbSUPER 7.3 +3.4 3426 0.2 ZIC2 EZH2 ZNF341 ZNF335 KLF17 GLIS1 EGR2 GLIS2 MAFA lnc-MAFA-1 lnc-MAFA-2 MAFA-AS1 RHPN1
GH08J143420 Enhancer 0.5 Ensembl 7.7 +9.6 9631 1 EZH2 ZNF341 EGR1 TFDP1 PCBP1 ZBTB33 MAFA ZC3H3 ENSG00000254859 MAFA-AS1 LNCOC1 NAPRT lnc-MAFA-1 lnc-MAFA-2 RHPN1
GH08J143021 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.3 +405.6 405646 7.1 SP1 HNRNPL GATAD2A TFE3 POLR2A BACH1 JUND LARP7 RELA ZIC2 MN298543 LY6E-DT MAFA piR-57585 LY6E LY6L RF00017-7363
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAFA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAFA

Top Transcription factor binding sites by QIAGEN in the MAFA gene promoter:
  • c-Ets-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-2
  • Lmo2
  • YY1

Genomic Locations for MAFA Gene

Genomic Locations for MAFA Gene
chr8:143,419,182-143,430,732
(GRCh38/hg38)
Size:
11,551 bases
Orientation:
Minus strand
chr8:144,501,352-144,512,602
(GRCh37/hg19)
Size:
11,251 bases
Orientation:
Minus strand

Genomic View for MAFA Gene

Genes around MAFA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAFA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAFA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAFA Gene

Proteins for MAFA Gene

  • Protein details for MAFA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHW3-MAFA_HUMAN
    Recommended name:
    Transcription factor MafA
    Protein Accession:
    Q8NHW3

    Protein attributes for MAFA Gene

    Size:
    353 amino acids
    Molecular mass:
    36982 Da
    Quaternary structure:
    • Forms homodimers or heterodimers (PubMed:12011435, PubMed:23148532). Monomers and dimers are able to bind DNA, but the off-rate is faster for monomers (PubMed:23148532). Interacts with NEUROD1 and PDX1 (By similarity). May interact with MAFB, FOS, JUN and PCAF (By similarity).

    Three dimensional structures from OCA and Proteopedia for MAFA Gene

neXtProt entry for MAFA Gene

Post-translational modifications for MAFA Gene

Other Protein References for MAFA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAFA Gene

Domains & Families for MAFA Gene

Gene Families for MAFA Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MAFA Gene

InterPro:
Blocks:
  • Maf transcription factor
  • Maf transcription factor, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for MAFA Gene

GenScript: Design optimal peptide antigens:
  • V-maf musculoaponeurotic fibrosarcoma oncogene homolog A (D4Q8H3_HUMAN)
  • V-maf musculoaponeurotic fibrosarcoma oncogene homolog A (MAFA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NHW3

UniProtKB/Swiss-Prot:

MAFA_HUMAN :
  • Belongs to the bZIP family. Maf subfamily.
Family:
  • Belongs to the bZIP family. Maf subfamily.
genes like me logo Genes that share domains with MAFA: view

Function for MAFA Gene

Molecular function for MAFA Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that activates insulin gene expression (PubMed:15993959, PubMed:12011435). Acts synergistically with NEUROD1/BETA2 and PDX1 (PubMed:15993959). Binds the insulin enhancer C1/RIPE3b element (PubMed:12011435). Binds to consensus TRE-type MARE 5'-TGCTGACTCAGCA-3' DNA sequence (PubMed:23148532, PubMed:29339498).

Phenotypes From GWAS Catalog for MAFA Gene

Gene Ontology (GO) - Molecular Function for MAFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IDA 12368292
GO:0003700 DNA-binding transcription factor activity IBA,TAS 12368292
genes like me logo Genes that share ontologies with MAFA: view
genes like me logo Genes that share phenotypes with MAFA: view

Human Phenotype Ontology for MAFA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAFA Gene

MGI Knock Outs for MAFA:
  • Mafa Mafa<tm1.1Eyc>
  • Mafa Mafa<tm1Staka>

Animal Model Products

CRISPR Products

Targeted motifs for MAFA Gene
HOMER Transcription Factor Regulatory Elements motif MAFA
  • Consensus sequence: TGCTGACTCA Submotif: canonical Cell Type: Islet GEO ID: GSE30298

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAFA

No data available for Enzyme Numbers (IUBMB) , miRNA and Transcription Factor Targets for MAFA Gene

Localization for MAFA Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAFA Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAFA gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MAFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,IDA 12368292
GO:0042025 host cell nucleus IEA --
genes like me logo Genes that share ontologies with MAFA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAFA Gene

Pathways & Interactions for MAFA Gene

genes like me logo Genes that share pathways with MAFA: view

Pathways by source for MAFA Gene

SIGNOR curated interactions for MAFA Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MAFA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated TAS 12368292
GO:0007263 nitric oxide mediated signal transduction IDA 17941991
GO:0009749 response to glucose IDA 12368292
GO:0030073 insulin secretion IDA 17941991
GO:0045893 positive regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with MAFA: view

Drugs & Compounds for MAFA Gene

(1) Additional Compounds for MAFA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MAFA: view

Transcripts for MAFA Gene

mRNA/cDNA for MAFA Gene

1 REFSEQ mRNAs :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAFA

Alternative Splicing Database (ASD) splice patterns (SP) for MAFA Gene

No ASD Table

Relevant External Links for MAFA Gene

GeneLoc Exon Structure for
MAFA

Expression for MAFA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAFA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAFA Gene

This gene is overexpressed in Muscle - Skeletal (x30.3) and Testis (x6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAFA Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAFA

SOURCE GeneReport for Unigene cluster for MAFA Gene:

Hs.521914

mRNA Expression by UniProt/SwissProt for MAFA Gene:

Q8NHW3-MAFA_HUMAN
Tissue specificity: Expressed in the islets of Langerhans (at protein level).

Evidence on tissue expression from TISSUES for MAFA Gene

  • Pancreas(3.3)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with MAFA: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAFA Gene

Orthologs for MAFA Gene

This gene was present in the common ancestor of animals.

Orthologs for MAFA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia -- 31
  • 95 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia MAFA 30 31
  • 92.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MAFA 30 31
  • 90.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mafa 30 17 31
  • 88.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mafa 30
  • 82.53 (n)
Oppossum
(Monodelphis domestica)
Mammalia MAFA 31
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MAFA 30 31
  • 72.61 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mafa 30
  • 72.78 (n)
Zebrafish
(Danio rerio)
Actinopterygii mafa 30 31
  • 70.48 (n)
OneToOne
mafl 30
Fruit Fly
(Drosophila melanogaster)
Insecta tj 31
  • 21 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea maf-1 31
  • 28 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
ManyToMany
Species where no ortholog for MAFA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MAFA Gene

ENSEMBL:
Gene Tree for MAFA (if available)
TreeFam:
Gene Tree for MAFA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAFA: view image

Paralogs for MAFA Gene

Paralogs for MAFA Gene

(6) SIMAP similar genes for MAFA Gene using alignment to 2 proteins:

  • MAFA_HUMAN
  • D4Q8H3_HUMAN
genes like me logo Genes that share paralogs with MAFA: view

Variants for MAFA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAFA Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1554635488 Likely Pathogenic: Islet cell adenomatosis. Insulinomatosis and diabetes mellitus (INSDM) [MIM:147630] 143,430,216(-) G/Ap.Ser64Phe MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MAFA Gene

Structural Variations from Database of Genomic Variants (DGV) for MAFA Gene

Variant ID Type Subtype PubMed ID
dgv1199n67 CNV gain 20364138
esv2668424 CNV deletion 23128226
esv3619107 CNV gain 21293372
nsv1112971 CNV deletion 24896259
nsv1144240 CNV deletion 24896259
nsv470247 CNV loss 18288195
nsv612768 CNV loss 21841781
nsv612769 CNV loss 21841781
nsv824765 CNV gain 20364138
nsv950012 CNV deletion 24416366

Variation tolerance for MAFA Gene

Gene Damage Index Score: 4.03; 60.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAFA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAFA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAFA Gene

Disorders for MAFA Gene

MalaCards: The human disease database

(6) MalaCards diseases for MAFA Gene - From: UniProtKB/Swiss-Prot, OMIM, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
insulinomatosis and diabetes mellitus
  • insdm
fibrosarcoma
  • fibrocytic tumor
diabetes mellitus
  • diabetes
insulinoma
  • islet cell tumor
hyperinsulinemic hypoglycemia
  • nesidioblastosis
- elite association - COSMIC cancer census association via MalaCards
Search MAFA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MAFA_HUMAN
  • Insulinomatosis and diabetes mellitus (INSDM) [MIM:147630]: An autosomal dominant disorder characterized by the occurrence of multicentric insulinomas, hyperinsulinemic hypoglycemia, non insulin-dependent diabetes mellitus, and impaired glucose tolerance. Some patients also exhibit congenital cataract and/or congenital glaucoma. {ECO:0000269 PubMed:29339498}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MAFA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MAFA: view

No data available for Genatlas for MAFA Gene

Publications for MAFA Gene

  1. Mutations in MAFA and IAPP are not a common cause of monogenic diabetes. (PMID: 19573128) Garin I … Spanish GEDIMO Group (Diabetic medicine : a journal of the British Diabetic Association 2009) 3 23 41
  2. Synergistic activation of the insulin gene promoter by the beta-cell enriched transcription factors MafA, Beta2, and Pdx1. (PMID: 15993959) Aramata S … Kataoka K (Biochimica et biophysica acta 2005) 3 4 23
  3. MafA is a glucose-regulated and pancreatic beta-cell-specific transcriptional activator for the insulin gene. (PMID: 12368292) Kataoka K … Handa H (The Journal of biological chemistry 2002) 3 4 23
  4. MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. (PMID: 29339498) Iacovazzo D … Ellard S (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 4
  5. Role of MafA in pancreatic beta-cells. (PMID: 19393272) Kaneto H … Matsuhisa M (Advanced drug delivery reviews 2009) 3 23

Products for MAFA Gene

Sources for MAFA Gene