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The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008] See more...
Aliases for MAFB Gene
Aliases for MAFB Gene
External Ids for MAFB Gene
- HGNC: 6408
- Entrez Gene: 9935
- Ensembl: ENSG00000204103
- OMIM: 608968
- UniProtKB: Q9Y5Q3
Previous HGNC Symbols for MAFB Gene
- KRML
Previous GeneCards Identifiers for MAFB Gene
- GC20M039043
- GC20M039952
- GC20M039999
- GC20M038747
- GC20M039314
- GC20M036052
Summaries for MAFB Gene
-
The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]
GeneCards Summary for MAFB Gene
MAFB (MAF BZIP Transcription Factor B) is a Protein Coding gene. Diseases associated with MAFB include Multicentric Carpotarsal Osteolysis Syndrome and Duane Retraction Syndrome 3 With Or Without Deafness. Among its related pathways are Ectoderm Differentiation and Parathyroid hormone synthesis, secretion and action. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is MAF.
UniProtKB/Swiss-Prot Summary for MAFB Gene
-
Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context.
Additional gene information for MAFB Gene
- Monarch Initiative
- Search for MAFB at DataMed
- Search for MAFB at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAFB Gene
Genomics for MAFB Gene
GeneHancer (GH) Regulatory Elements for MAFB Gene
Promoters and enhancers for MAFB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MAFB on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAFB
- Top Transcription factor binding sites by QIAGEN in the MAFB gene promoter:
-
- AhR
- aMEF-2
- Arnt
- CBF(2)
- Cdc5
- MEF-2A
- NF-Y
- STAT1
- STAT1alpha
- STAT1beta
Genomic Locations for MAFB Gene
Genomic Locations for MAFB Gene
- chr20:40,685,848-40,689,240
- (GRCh38/hg38)
- Size:
- 3,393 bases
- Orientation:
- Minus strand
- chr20:39,314,488-39,317,880
- (GRCh37/hg19)
- Size:
- 3,393 bases
- Orientation:
- Minus strand
Genomic View for MAFB Gene
Genes around MAFB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q12 by HGNC
- 20q12 by Entrez Gene
- 20q12 by Ensembl
MAFB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MAFB Gene
Proteins for MAFB Gene
-
Protein details for MAFB Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y5Q3-MAFB_HUMAN
- Recommended name:
- Transcription factor MafB
- Protein Accession:
- Q9Y5Q3
- B3KNE1
- Q9H1F1
Protein attributes for MAFB Gene
- Size:
- 323 amino acids
- Molecular mass:
- 35792 Da
- Quaternary structure:
-
- Homodimer or heterodimer with other bHLH-Zip transcription factors. Binds DNA as a homodimer or a heterodimer. Forms homodimers and heterodimers with FOS, FOSB and FOSL2, but not with JUN proteins (JUN, JUNB and JUND). Interacts with PAX6; the interaction is direct. Interacts with ETS1 and LRP1 (By similarity). Interacts with the intracellular cytoplasmic domain of LRP1 (LRPICD); the interaction results in a moderate reduction of MAFB transcriptional potential.
Protein Expression for MAFB Gene
Post-translational modifications for MAFB Gene
- Phosphorylated by GSK3 and MAPK13 on serine and threonine residues.
- Sumoylated. Sumoylation on Lys-32 and Lys-297 stimulates its transcriptional repression activity and promotes macrophage differentiation from myeloid progenitors (By similarity).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for MAFB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ MafB Antibody
- Creative Diagnostics Anti-MAFB monoclonal antibody
- Creative Biolabs Mouse Anti-MAFB Recombinant Antibody (1A10)
- BioLegend MAFB Antibody
- Novus Biologicals Antibodies for MAFB
-
Abcam antibodies for MAFB
- Invitrogen Antibodies for MAFB (AFLGC-MAFB)
-
Biorbyt antibodies for MAFB
-
Santa Cruz Biotechnology (SCBT) Antibodies for MAFB
Protein Products
-
OriGene Purified Proteins for MAFB
- Search Origene for MassSpec and Protein Over-expression Lysates for MAFB
- Origene Custom Protein Services for MAFB
- antibodies-online: Show 9 available MAFB Proteins ranked by validation data
- Compare Top MAFB Proteins
-
Quality Products:
-
Abcam proteins for MAFB
No data available for DME Specific Peptides for MAFB Gene
Domains & Families for MAFB Gene
Gene Families for MAFB Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for MAFB Gene
- Blocks:
-
- Maf transcription factor
- Maf transcription factor, N-terminal
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MAFB Gene
- GenScript: Design optimal peptide antigens:
-
- V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y5Q3UniProtKB/Swiss-Prot:
MAFB_HUMAN :- The leucine-zipper domain is involved in the interaction with LRPICD.
- Belongs to the bZIP family. Maf subfamily.
- Domain:
-
- The leucine-zipper domain is involved in the interaction with LRPICD.
- Family:
-
- Belongs to the bZIP family. Maf subfamily.
Function for MAFB Gene
Molecular function for MAFB Gene
- UniProtKB/Swiss-Prot Function:
- Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context.
Phenotypes From GWAS Catalog for MAFB 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 | NAS,IEA | 19274049 |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | DNA-binding transcription factor activity | IBA | 21873635 |
Phenotypes for MAFB Gene
- MGI mutant phenotypes for MAFB:
-
inferred from 6 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- craniofacial phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- hearing/vestibular/ear phenotype
- renal/urinary system phenotype
- immune system phenotype
- GenomeRNAi human phenotypes for MAFB:
Animal Models for MAFB Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for MAFB
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MAFB - Select products 50% OFF >
- * MAFB CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MAFB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MAFB
- genomics-online: gRNA clones - Search for available MAFB gRNA products
- Overview of 94 available MAFB gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAFB
miRNA for MAFB Gene
- miRTarBase miRNAs that target MAFB
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAFB
- Browse OriGene Inhibitory RNA Products For MAFB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAFB
- genomics-online: shRNA clones - Search for available MAFB shRNA products
- Overview of 94 available MAFB gene related products
Clone Products
- Applied Biological Materials (abm): Clones for MAFB - Select products 50% OFF >
- * MAFB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MAFB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MAFB
- genomics-online: cdna clones - Search for available MAFB CDNA products
- Overview of 94 available MAFB gene related products
- orf clones - Search for available MAFB ORF products
- Overview of 94 available MAFB gene related products
Cell Line Products
-
Horizon Cell Lines for MAFB
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MAFB Gene
Localization for MAFB Gene
Subcellular locations from UniProtKB/Swiss-Prot for MAFB Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Golgi apparatus (2)
- Nucleoli (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | IBA,TAS | 21873635 |
| GO:0005667 | transcription factor complex | IEA | -- |
Pathways & Interactions for MAFB Gene
Pathways by source for MAFB Gene
1 BioSystems pathway for MAFB Gene
1 PharmGKB pathway for MAFB Gene
1 KEGG pathway for MAFB Gene
Interacting Proteins for MAFB Gene
Selected Interacting proteins:
Q9Y5Q3-MAFB_HUMAN
ENSP00000362410
for MAFB Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for MAFB
SIGNOR curated interactions for MAFB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006355 | regulation of transcription, DNA-templated | IMP | 27181683 |
| GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0007379 | segment specification | IEA | -- |
| GO:0007423 | sensory organ development | TAS | 8001130 |
| GO:0007585 | respiratory gaseous exchange | IEA | -- |
Drugs & Compounds for MAFB Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Tumor necrosis factor alpha (TNF-alpha) inhibitors | Pharma | 0 |
Transcripts for MAFB Gene
mRNA/cDNA for MAFB Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000373313 3389 bps (ENST00000373313.3)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MAFB - Select products 50% OFF >
- * MAFB CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MAFB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MAFB
- genomics-online: gRNA clones - Search for available MAFB gRNA products
- Overview of 94 available MAFB gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for MAFB
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAFB
- Browse OriGene Inhibitory RNA Products For MAFB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAFB
- genomics-online: shRNA clones - Search for available MAFB shRNA products
- Overview of 94 available MAFB gene related products
Clone Products
- Applied Biological Materials (abm): Clones for MAFB - Select products 50% OFF >
- * MAFB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MAFB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MAFB
- genomics-online: cdna clones - Search for available MAFB CDNA products
- Overview of 94 available MAFB gene related products
- orf clones - Search for available MAFB ORF products
- Overview of 94 available MAFB gene related products
Relevant External Links for MAFB Gene
- GeneLoc Exon Structure for
- MAFB
Expression for MAFB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Immature Beta Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Alpha Cells Islets of Langerhans
- Beta/Delta Progenitor Cells Dorsal Pancreatic Bud
-
Epithelial Cells
- Anterior Lens Epithelial Cells Lens
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
- Presumptive Podocytes Podocyte Layer
-
Neural Tube (Nervous System)
- Roof Plate Cells Mesencephalic Roof Plate
- Telencephalon
- Rhombencephalon
- Mesencephalic Roof Plate
- Floor plate-like cells(Fasano CA et. al. 2010)
-
Kidney (Urinary System)
- Presumptive Podocytes Podocyte Layer
- S-shaped Body Proximal Cells S-shaped Body Proximal Segment
- Podocytes Podocyte Layer
- S-shaped Body
- Metanephros
-
Testis (Reproductive System)
- Perivascular Cells Testis Interstitium
- Leydig Cells Testis Interstitium
- Testicular Interstitial Cells Testis Interstitium
- Eye (Sensory Organs)
-
Blood (Hematopoietic System)
- Monocytes Peripheral Blood
-
Gonad
- Perivascular Cells Testis Interstitium
-
Neural Crest (Gastrulation Derivatives)
- Cranial Neural Crest Cells Cranial Neural Crest
-
Liver (Hepatobiliary System)
- Periportal Hepatocytes Liver Lobule
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
-
Bone (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
-
Cartilage (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- Brain (Nervous System)
- Head Mesenchyme (Muscoskeletal System)
-
Spleen (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for MAFB Gene
This gene is overexpressed in Spleen (x6.4) and Skin - Sun Exposed (Lower leg) (x4.5).
This gene is overexpressed in Liver, secretome (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAFB Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAFB
SOURCE GeneReport for Unigene cluster for MAFB Gene:
Hs.169487mRNA Expression by UniProt/SwissProt for MAFB Gene:
Q9Y5Q3-MAFB_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for MAFB Gene
- Nervous system(4.7)
- Bone marrow(4.5)
- Pancreas(4)
- Spleen(3.9)
- Blood(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MAFB Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- cheek
- chin
- ear
- eye
- eyelid
- face
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- heart
- rib
- rib cage
- scapula
- sternum
Abdomen:
- kidney
Pelvis:
- pelvis
- ureter
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for MAFB
-
OriGene qPCR primer pairs and template standards for MAFB
- genomics-online: primer clones - Search for available MAFB Primer products
- Overview of 94 available MAFB gene related products
Gene Expression Assay Products
Orthologs for MAFB Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MAFB 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MAFB 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Mafb 30 |
|
||
| dog (Canis familiaris) |
Mammalia | MAFB 31 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Mafb 17 31 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MAFB 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MAFB 30 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mafb 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24839 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mafba 31 |
|
OneToMany | |
| mafbb 31 |
|
OneToMany | |||
| val 30 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10331 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | tj 31 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | maf-1 31 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
- Species where no ortholog for MAFB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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 MAFB Gene
- ENSEMBL:
- Gene Tree for MAFB (if available)
- TreeFam:
- Gene Tree for MAFB (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MAFB: view image
Paralogs for MAFB Gene
Variants for MAFB Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAFB Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 684763 | Likely Pathogenic: Carpal osteolysis | 40,688,678(-) | G/C | MISSENSE_VARIANT | |
| 742916 | Likely Benign: not provided | 40,688,779(-) | G/A | SYNONYMOUS_VARIANT | |
| 784409 | Benign: not provided | 40,688,137(-) | G/A | SYNONYMOUS_VARIANT | |
| 803608 | Pathogenic: Multicentric osteolysis nephropathy | 40,688,666(-) | G/A | MISSENSE_VARIANT | |
| 807627 | Pathogenic: Multicentric osteolysis nephropathy | 40,688,667(-) | T/C | MISSENSE_VARIANT |
Residual Variation Intolerance Score:
35.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.45;
9.79% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MAFB Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAFB Gene
Disorders for MAFB Gene
(17) MalaCards diseases for MAFB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| multicentric carpotarsal osteolysis syndrome |
|
|
| duane retraction syndrome 3 with or without deafness |
|
|
| duane retraction syndrome 1 |
|
|
| duane retraction syndrome 2 |
|
|
| duane retraction syndrome |
|
|
Search MAFB in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MAFB_HUMAN- Multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]: A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. {ECO:0000269 PubMed:22387013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Duane retraction syndrome 3 with or without deafness (DURS3) [MIM:617041]: A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. Some DURS3 patients manifest sensorineural hearing loss. {ECO:0000269 PubMed:27181683}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MAFB
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for MAFB Gene
Publications for MAFB Gene
- Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias. (PMID: 10444328) Wang PW … Le Beau MM (Genomics 1999) 2 3 4 23 54
- Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. (PMID: 18615156) Liu C … Gregersen PK (Molecular medicine (Cambridge, Mass.) 2008) 3 23 41 54
- Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. (PMID: 27181683) Park JG … Engle EC (American journal of human genetics 2016) 3 4 54
- Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. (PMID: 22387013) Zankl A … Brown MA (American journal of human genetics 2012) 3 4 54
- A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. (PMID: 20436469) Beaty TH … Scott AF (Nature genetics 2010) 3 41 54
ExternalLinks
Products for MAFB Gene
- Custom Antibody ServicesOriGene Antibodies for MAFB
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for MAFB
- Search Origene for MassSpec and Protein Over-expression Lysates for MAFB
- Origene Custom Protein Services for MAFB
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MAFB
- Browse OriGene Inhibitory RNA Products For MAFB
- OriGene qPCR primer pairs for MAFB
- OriGene qPCR primer pairs and template standards for MAFB
- OriGene CRISPR knockouts for MAFB
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MAFB
- Sino Biological Human cDNA Clone for MAFB
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MAFB
- Novus Biologicals proteins and lysates for MAFB
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for MAFB
- Abcam proteins for MAFB
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for MAFB
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for MAFB (AFLGC-MAFB)
- VectorBuilder Custom and pre-made DNA vectors for MAFB (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MAFB (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MAFB (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MAFB CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MAFB
- antibodies-online: Show 18 available MAFB Antibodies ranked by validation data
- Compare Top MAFB Antibodies
- antibodies-online: Search results for available MAFB related products ranked by validation data
- antibodies-online: Show 9 available MAFB Proteins ranked by validation data
- Compare Top MAFB Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for MAFB
- Search Santa Cruz Biotechnology (SCBT) for MAFB siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MAFB
- Horizon Cell Lines for MAFB
- genomics-online: cdna clones - Search for available MAFB CDNA products
- Overview of 94 available MAFB gene related products
- orf clones - Search for available MAFB ORF products
- Overview of 94 available MAFB gene related products
- genomics-online: gRNA clones - Search for available MAFB gRNA products
- Overview of 94 available MAFB gene related products
- genomics-online: primer clones - Search for available MAFB Primer products
- Overview of 94 available MAFB gene related products
- genomics-online: shRNA clones - Search for available MAFB shRNA products
- Overview of 94 available MAFB gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MAFB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MAFB
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MAFB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAFB
- Biorbyt antibodies for MAFB
Sources for MAFB Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
- (114) CDC
- (115) NINDS
- (116) NCBI Bookshelf
- (117) ClinVar
- (118) Gene Damage Index
- (119) HPO
- (120) UDN
- (121) VISTA
- (122) FANTOM5
- (123) ENCODE
- (124) ProSci
- (125) Horizon
- (126) The Signaling Pathways Project (SPP)
- (127) IID
- (128) VectorBuilder
- (129) SNPedia
- (130) BRCA Exchange
- (131) CIViC
- (132) ProteoGenix
- (133) dbSUPER
- (134) TISSUES
- (135) Gene ORGANizer
- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
- (141) HumanCyc
- (142) genomics-online
- (143) UCNEbase
- (144) EPDnew
- (145) Applied Biosystems
- (146) GlyConnect
- (147) Aminode
- (148) GeneCopoeia
- (149) GPS-Prot
- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
- (164) ENA
- (165) GtRNAdb
- (166) LncBase
- (167) LncBook
- (168) LNCipedia
- (169) LncRNAdb
- (170) Modomics
- (171) PDBe
- (172) Rfam
- (173) SILVA
- (174) snOPY
- (175) SRPDB
- (176) GENCODE
- (177) TarBase
- (178) MyBioSource
- (179) Signalway Antibody