MAF Gene
protein-coding GIFtS : 63 GCID: GC16 M079627
v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) v-maf musculoaponeurotic fibrosarcoma (avian) oncogene...
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Aliasesfor MAF gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog (Avian) 1 2 Avian Musculoaponeurotic Fibrosarcoma (MAF) Protooncogene2 C-MAF1 C-Maf Proto-Oncogene2 Proto-Oncogene C-Maf2 3 T Lymphocyte C-Maf Long Form2 V-Maf Musculoaponeurotic Fibrosarcoma (Avian) Oncogene Homolog1 Transcription Factor Maf2 CCA42 V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog3
Export aliases for MAF gene to outside databases Previous GC identifers: GC16M070559 GC16M080589 GC16M079366 GC16M079407 GC16M078185 GC16M065384
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Summariesfor MAF 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 MAF : The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jan 2010) UniProtKB/Swiss-Prot: MAF_HUMAN, O75444 Function : Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruitsthe transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5'-[GT]G[GC]N[GT]NCTCAGNN-3' in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters Gene Wiki entry for MAF
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Genomic Viewsfor MAF gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,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_000016.9 NC_018927.1 NT_010498.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MAF gene promoter:E2F-4 E2F-3a E2F-1 E2F AP-1 ATF-2 c-Jun Other transcription factors Search SABiosciences Chromatin IP Primers for MAF Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 16q22-q23 Ensembl cytogenetic band: 16q23.2 HGNC cytogenetic band: 16q22-q23 MAF Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16M079627: view genomic region
(about GC identifiers )
Start: 79,619,740 bp from pter End:
79,634,622 bp from pter
Size: 14,883 bases Orientation:
minus strand
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Proteinsfor MAF gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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 ,
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: MAF_HUMAN, O75444 See
protein sequence )Recommended Name: Size : 373 amino acids; 38492 DaSubunit : Homodimer or heterodimer with other bHLH-Zip transcription factors. Binds DNA as a homodimer or as aheterodimer. Heterotetramer of two MAF and two USF2. Interacts with PAX6; the interaction is direct. Interacts with MYB; interaction takes place weakly in normal T-cells and increases in T-cells following stimulation through the TCR engagement. Interacts with MYB; the ternary complex formed with MYB and the CD13 promoter is regulated in response to differentiating signals. Interacts with USF2; the interaction inhibits its DNA-binding activity on the L7 promoter. Interacts with CREBBP, EP300 and ETS1 (By similarity)
Subcellular location : Nucleus (By similarity)Secondary accessions : Q66I47 Q9UP93Alternative splicing : 2 isoforms : O75444-2 O75444-1 Explore the universe of human proteins at neXtProt for MAF: NX_O75444 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 phosphorylation status can serve to either stimulate or inhibit transcription1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_O75444 MAF Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins (2 alternative transcripts): NP_001026974.1 NP_005351.2 ENSEMBL proteins: ENSP00000455097 ENSP00000327048 ENSP00000377019 Human Recombinant Protein Products for MAF: Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view) : About this table
About GeneDecksing MAF Antibody Products: Assay Products for MAF:
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Protein
Domains /for MAF gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 5 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry O75444 ProtoNet protein and cluster: O75444
2 Blocks protein families : IPB004826 IPB013592 UniProtKB/Swiss-Prot: MAF_HUMAN, O75444 Similarity : Belongs to the bZIP family. Maf subfamilySimilarity : Contains 1 bZIP (basic-leucine zipper) domain
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Functionfor MAF gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
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: MAF_HUMAN, O75444 Function : Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruitsthe transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5'-[GT]G[GC]N[GT]NCTCAGNN-3' in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters Induction : Up-regulated with tert-butyl hydroquinone (t-BHQ)
Genatlas biochemistry entry for MAF avian musculoaponeurotic fibrosarcoma (v-maf) oncogene homolog Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0003677 DNA binding
-- -- GO:0003690 double-stranded DNA binding
-- -- GO:0003700 sequence-specific DNA binding transcription factor activity
IEA -- GO:0005515 protein binding
-- -- GO:0016563 transcription activator activity
-- --
About GeneDecksing Phenotypes: 1 GenomeRNAi human phenotype for MAF :10 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Maf) :About GeneDecksing Animal Models: Maf tm1Glm for MAFClone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 4 )human mouse rat see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): MAF (NM_005360 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MAF Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MAF
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAF
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Pathways & Interactionsfor MAF 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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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-pathway contained gene-specific pathways 1 Tacrolimus/Cyclosporine Pathway, Pharmacodynamics 2 C-MYB transcription factor network 3 Keap1-Nrf2 Pathway 4 Calcium signaling in the CD4+ TCR pathway
3 1 MAF Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MAF STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/33 Interacting proteins for MAF (O75444 3 ENSP00000327048 4 via UniProtKB, MINT, STRING , and/or I2D (see all 33 )About this table Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0000122 negative regulation of transcription from RNA polymerase II promoter
IEA -- GO:0001816 cytokine production
IEA -- GO:0002088 lens development in camera-type eye
-- -- GO:0006355 regulation of transcription, DNA-dependent
-- -- GO:0006366 transcription from RNA polymerase II promoter
TAS 9616139
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Drugs & Compoundsfor MAF 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 About GeneDecksing Browse Tocris compounds for MAF 4 Novoseek chemical compound relationships for MAF gene About this table MAF
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Transcriptsfor MAF gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for MAF gene (2 alternative transcripts): NM_001031804.2 NM_005360.4 Unigene Cluster for MAF:
V-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) Hs.134859 [show with all ESTs ] Unigene Representative Sequence: NM_001031804 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000569649 ENST00000326043 (uc002ffm.3 ) ENST00000393350 (uc002ffn.3 )Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 4 )human mouse rat see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): MAF (NM_005360 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MAF Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MAF
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 ):
BF195675 AV647852 AA333616 BU687957 BF222133 AI041849 AA643839 AI420009 BI494727 BE855956 AI640131 AW772440 BU681039 AI971374 AA342150 AI493299 AA044658 AI017008 AA772549 AI971950 AA043501 AW611565 AI810756 AA722840 GeneLoc Exon Structure
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Expression for MAF 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 ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section MAF expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TGCTTGCAACAbout this image MAF expression in embryonic tissues and stem cells About this table
10/23 LifeMap In Vivo Development Anatomical Compartments/Cells see all 23 ) Tissue Category (developmental path) Bone Autopod Growth Plate Terminal Chondrocytes Bone, Cartilage Bone Caudal Endochondral Bones Terminal Chondrocytes Bone, Cartilage Bone Cervical Vertebrae Terminal Chondrocytes Bone, Cartilage Bone Endochondral Facial Bones Terminal Chondrocytes Bone, Cartilage Bone Lumbar Vertebrae Terminal Chondrocytes Bone, Cartilage Bone Rostral Endochondral Facial Bones Terminal Chondrocytes Bone, Cartilage Bone Sacral Vertebrae Terminal Chondrocytes Bone, Cartilage Bone Stylopod Growth Plate Terminal Chondrocytes Bone, Cartilage Bone Thoracic Rib Terminal Chondrocytes Bone, Cartilage Bone Thoracic Vertebrae Terminal Chondrocytes Bone, Cartilage Expression: Experimental details:
In-situ hybridization
Stem Cell Differentiation: 6 LifeMap Cells Name Category Sclerotome cells (Primary Cell)Bone, Cartilage, Somite PureStem™ progenitor EN13 (Embryonic Progenitor Cell)PureStem™ progenitor EN7 (Embryonic Progenitor Cell)PureStem™ progenitor Z1 (Embryonic Progenitor Cell)Posterior foregut-like cells (A scalable, suspensi... )Intervertebral disc (IVD) annulus fibrosus (AF) cells (Differentiation of s... )Cartilage
See MAF Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for MAF SOURCE GeneReport for Unigene cluster: Hs.134859 UniProtKB/Swiss-Prot: MAF_HUMAN, O75444 Tissue specificity : Expressed in endothelial cellsSABiosciences Expression via Pathway-Focused PCR Arrays including MAF : Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAF
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Orthologsfor MAF gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for MAF gene from 6/18 species (see all 18 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
chicken Aves MAF1
v-maf musculoaponeurotic fibrosarcoma oncogene homolog more
85.59(n) 87.01(a)
693248 NM_001044671.1 NP_001038136.1
lizard Reptilia ----
--
92(a) 59(a)
1 ↔ 1possible ortholog
LGc(4937781-4938095) LGc(4938213-4938791)
tropical clawed frog Amphibia Str.154772
Transcribed sequence with weak similarity to protein more
71.88(n)
BX711265.1
zebrafish Actinopterygii maf2
v-maf musculoaponeurotic fibrosarcoma (avian) oncogene more
86.05(n)
114467 AB006323.2
fruit fly Insecta tj6
traffic jam
20(a)
1 → many
2L(19464267-19467758)
worm Secernentea maf-16
--
27(a)
possible ortholog
I(10382737-10384213)
ENSEMBL Gene Tree for MAF (if available)TreeFam Gene Tree for MAF (if available)
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Paralogsfor MAF gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for MAF gene NRL 2 MAFF 2 MAFG 2 MAFA 2 MAFK 2 MAFB 2 6 SIMAP similar genes for MAF using alignment to 3 protein entries: MAF_HUMAN (see all proteins ):MAFG MAFK MAFF MAFB MAFA NRL About GeneDecksing
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Genomic Variantsfor MAF gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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 Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 16 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for MAF (79619740 - 79634622 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for MAF 1 CNV 58778 Human Gene Mutation Database (HGMD) : MAF Locus Specific Mutation Databases (LSDB): MAF SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor MAF 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 About GeneDecksing OMIM gene information: 177075
OMIM disorders : --UniProtKB/Swiss-Prot: MAF_HUMAN, O75444 Note=A chromosomal aberration involving MAF is found in some forms of multiple myeloma (MM). Translocation t(14;16)(q32.3;q23) with an IgH locus Defects in MAF are the cause of cataract pulverulent juvenile-onset MAF-related (CAPJOM) [MIM:610202]. A form of cataract with nuclear or cortical pulverulent opacities. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens. The phenotype shows significant intra- and interfamilial variation, both in the distribution of the cataract and the degree of opacification. Some patients with cataract pulverulent juvenile-onset can present microcornea and bilateral iris colobomas in addition to cataract Defects in MAF are the cause of cataract congenital cerulean type 4 (CCA4) [MIM:610202]. A cerulean form of congenital cataract. Cerulean cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract 20/38 (see all 38 ): About MalaCards cerulean cataract cataract, pulverulent or cerulean, with or without microcornea cataract fibrosarcoma cataract, pulverulent nephrogenic adenofibroma cataract microcornea syndrome plasma cell leukemia peters anomaly congenital cataracts placental choriocarcinoma chronic lymphocytic leukemia burkitt's lymphoma lymphocytic leukemia t-cell leukemia coloboma choriocarcinoma nephrotic syndrome multiple myeloma goiter 3 diseases from the University of Copenhagen DISEASES database for MAF :Nephrogenic adenofibroma Fibrosarcoma Multiple myeloma 8 Novoseek disease relationships for MAF gene About this table
Human Genome Epidemiology (HuGE) Navigator: MAF (87 documents) Tumor Gene Database (TGDB) : MAF Export disorders for MAF gene to outside databases
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Publicationsfor MAF gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for MAF gene, integrated from 9 sources (see all 145 ):(articles sorted by number of sources associating them with MAF) Utopia : connect your pdf to the dynamic
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. (PubMed id 11772997) 1 , 2 , 9(2002) c-Maf negatively regulates ARE-mediated detoxifying enzyme genes expression and anti-oxidant induction. (PubMed id 12149651) 1 , 2 , 9(2002) CD13/APN transcription is regulated by the proto-oncogene c-Maf via an atypical response element. (PubMed id 17897790) 1 , 2 , 9(2007) A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant 'cerulean cataract' in an Indian family. (PubMed id 16470690) 1 , 2 , 9(2006) Overexpression of c-maf is a frequent oncogenic event in multiple myeloma that promotes proliferation and pathological interactions with bone marrow stroma. (PubMed id 14998494) 1 , 2 (2004) c-maf in multiple myeloma: an oncogene enhancing tumor-stroma interactions. (PubMed id 14998484) 1 , 3(2004) Frequent dysregulation of the c-maf proto-oncogene at 16q23 by translocation to an Ig locus in multiple myeloma. (PubMed id 9616139) 1 , 2 (1998) A set of Hox proteins interact with the Maf oncoprotein to inhibit its DNA binding, transactivation, and transforming activities. (PubMed id 11036080) 1 , 9(2001) Molecular basis distinguishing the DNA binding profile of Nrf2-Maf heterodimer from that of Maf homodimer. (PubMed id 17875642) 1 , 9(2007) Novel MAF mutation in a family with congenital cataract-microcornea syndrome. (PubMed id 17982426) 1 , 9(2007)
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About This Section Patent Information for MAF gene: MAF GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor MAF gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
Browse OriGene Antibodies OriGene shRNA RFP for MAF OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for MAF OriGene 3'-UTR Clone for MAF OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for MAF OriGene Custom Protein Services for MAF OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MAF QIAGEN SeqTarget long-range PCR primers in human mouse rat QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat MAF
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