Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MAFB (v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B)

Written2014-09Carolina Vicente-Dueñas, Inés González-Herrero, Idoia García-Ramírez, Isidro Sánchez-García
Experimental Therapeutics, Translational Oncology Program, Instituto de Biologia Molecular y Celular del Cancer, CSIC/ Universidad de Salamanca, Campus Miguel de Unamuno s/n, 37007, Salamanca, Spain, Institute of Biomedical Research of Salamanca (IBSAL), 37007 Salamanca, Spain

Abstract The MAFB protein is a basic leucine zipper (bZIP) transcription factor that plays important roles both in development and in the regulation of lineage-specific hematopoiesis. This gene contains no introns. The abnormal function of MAFB has been implicated in multiple myeloma, myeloid leukemias, multicentric carpotarsal osteolysis, Dupuytren's disease and nonsyndromic cleft lip.

Keywords MAFB, KRML, MCTO, multiple myeloma, myeloid leukemia, multicentric carpotarsal osteolysis

(Note : for Links provided by Atlas : click)


Kreisler (mouse) maf-related leucine zipper homolog
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
Other aliasMCTO
LocusID (NCBI) 9935
Atlas_Id 41236
Location 20q12  [Link to chromosome band 20q12]
Location_base_pair Starts at 40685848 and ends at 40689240 bp from pter ( according to hg19-Feb_2009)  [Mapping MAFB.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MAFB (20q12) / PATJ (1p31.3)MAFB (20q12) / WDR48 (3p22.2)NSD2 (4p16.3) / MAFB (20q12)
STPG1 (1p36.11) / MAFB (20q12)ZBTB46 (20q13.33) / MAFB (20q12)


Note The MAFB open reading frame is encoded by a unique exon.
Description MAFB gene maps to chromosome 20q11.2-q13.1, consists of a single exon and spans around 3 kb (Cordes and Barsh, 1994; Sieweke et al., 1996).
Transcription 1 exon, 3378 bp.
Ubiquitous expression of MAFB.


Note MAF family members, such as MAFB, are basic region/leucine zipper transcription factors that affect transcription positively or negatively, depending on their partner proteins and the context of the target promoter (Wang et al., 1999).
  Protein structure of MAFB.
Description Sequence length: 323 aa.
Molecular mass of 35792 Da.
Sequence similarities: MAFB belongs to the bZIP family. MAF family contains one bZIP (basic-leucine zipper) domain.
Expression MAFB is expressed in the digestive, endocrine and in immature myeloid/monocytic cells but not in lymphocytes.
Localisation Intracellular, nucleus.
Function Transcription factor; DNA binding protein.
MAFB acts as a transcriptional activator or repressor. It plays a role in erythroid differentiation and in the haematopoietic system it is expressed in immature myeloid/monocytic cells but not in lymphocytes (Kelly et al., 2000). MAFB plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells (Zanocco-Marani et al., 2009). It is also required for monocytic, macrophage, podocyte and islet beta cell differentiation (Kelly et al., 2000; Sevinsky et al., 2004; Bakri et al., 2005; Gemelli et al., 2008; Vanhoose et al., 2008; Aziz et al., 2009). SUMO modification controls its transcriptional activity and ability to specify macrophage fate (Tillmanns et al., 2007). Together with MAFA, MAFB regulates PDX1 transcription in pancreatic beta cells (Vanhoose et al., 2008). It is also involved in renal tubule survival and F4/80 maturation (Moriguchi et al., 2006). This protein activates the insulin and glucagon promoters. Together with PAX6, MAFB transactivates weakly the glucagon gene promoter through the G1 element (Gosmain et al., 2010). MAFB induces osteoclastogenesis and is essential for normal renal development (Zankl et al., 2012). It is a regulator of hindbrain segmentation and interacts with the ICD of LRP1 through a leucine zipper domain (Petersen et al., 2004). It is involved either as an oncogene or as a tumor suppressor, depending on the cell context, in multiple myeloma and myeloid leukemia development (Eychène et al., 2008).
It is implicated in the following physiological biological processes: rhombomere 6 development; segment specification; negative regulation of erythrocyte differentiation; inner ear morphogenesis; sensory organ development; transcription, DNA-dependent; thymus development; T cell differentiation in the thymus; positive regulation of transcription from RNA polymerase II promoter; respiratory gaseous exchange; rhombomere 5 development; brain segmentation.
Homology MAFB shares 84% amino acid identity with its murine homolog.

Implicated in

Entity Multiple myeloma
Disease Multiple myeloma, also known as plasma cell myeloma, is a cancer of plasma cells. In multiple myeloma, collections of abnormal plasma cells accumulate in the bone marrow, where they interfere with the production of normal blood cells. Most cases of multiple myeloma also feature the production of a paraprotein - an abnormal antibody which can cause kidney problems. Bone lesions and hypercalcemia (high blood calcium levels) are also often encountered. MAFB is a specific marker for the prognostic unfavorable t(14;20)(q32;q12) in multiple myeloma patients (Stralen et al., 2009).
Prognosis With high-dose therapy followed by autologous stem cell transplantation, the median survival has been estimated to be approximately 4.5 years in 2013, compared to a median of approximately 3.5 years with "standard" therapy (Child et al., 2003). Overall the 5-year survival rate is around 35% (Seiter et al., 2013).
Cytogenetics Translocation t(14;20)(q32;q12).
Hybrid/Mutated Gene IGH-MAFB given rise to and aberrant expression of MAFB.
Translocation t(14;20) is implicated in multiple myeloma. Chromosomal translocations of the immunoglobulin heavy chain (IgH) gene region at 14q32 are regularly involved in B lymphoid malignancies. The recurrent translocation t(14;20)(q32;q12) in multiple myeloma results in aberrant expression of MAFB.
Abnormal Protein No fusion protein. Only aberrant expression of MAFB.
Oncogenesis Human plasma cell neoplasias are thought to develop from either differentiated B cells or plasma cells. However, when the expression of MAF oncogenes (associated to human plasma cell neoplasias) are targeted to mouse B cells, the resulting animals fail to reproduce the human disease. An engineered transgenic mice that express MafB in haematopoietic stem/progenitor cells (HS/PCs) reproduced human multiple myeloma disease suggesting that, mechanistically, the haematopoietic progenitor population can be the target for transformation in MafB-associated plasma cell neoplasias (Vicente-Dueñas et al., 2012b). And the loss of p53 exacerbates this tumor stem cell reprogramming process (Vicente-Dueñas et al., 2012a).
Entity Myeloid leukemia
Note MAFB gene is deleted in myeloid leukemias (Wang et al., 1999). A deletion of the long arm of chromosome 20 [del(20q)] is a recurring abnormality in a wide spectrum of myeloid disorders. Loss of genetic material from 20q seems to confer a proliferative advantage to myeloid cells, possibly through loss of function of a tumor suppressor gene (Wang et al., 1998).
Disease Myeloid leukemia is a type of leukemia affecting myeloid tissue. There are two main types, acute myeloid leukemia and chronic myelogenous leukemia.
Cytogenetics Deletion of the long arm of chromosome 20.
Entity Multicentric carpotarsal osteolysis (MCTO)
Note Multicentric carpotarsal osteolysis is due to a heterozygosity missense mutations in the MAFB gene. The mutations were clustered within a 51-bp region of the single exon of MAFB at the N-terminal transcription activation domain. The allelic variants are: THR62PRO; SER70ALA; SER70LEU; PRO71SER; PRO71LEU and PRO54LEU (Zankl et al., 2012).
Disease Defects in MAFB are the cause of multicentric carpotarsal osteolysis syndrome (MCTO). MCTO is 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. The main clinical features are progressive destruction of the carpal and tarsal bone and other bones may also be involved, associated with chronic renal failure, mental retardation and minor facial anomalies.
Entity Dupuytren's disease (DD)
Note Microarray analysis identified significantly upregulatation of MAFB among other genes in Dupuytren's disease. MAFB immunohistochemistry showed positive staining in 50% of the DD specimens studied (Lee et al., 2006).
Disease Dupuytren's disease is characterized by fibroblastic proliferation of the palmar fascia, often leading to flexion contracture in the hand, where the fingers bend towards the palm and cannot be fully extended (Lee et al., 2006). Dupuytren's contracture progresses slowly and is often accompanied by some aching and itching. In patients with this condition, the palmar fascia thickens and shortens so that the tendons connected to the fingers cannot move freely. Incidence increases after the age of 40.
Entity Nonsyndromic cleft lip (NSCLP)
Note Nonsyndromic cleft lip with or without cleft palate is a common isolated orofacial birth defect. The etiology of NSCLP is complex with both genetic and environmental factors implicated, but to date approximately only 20% of the genetic susceptibility has been identified (Vieira, 2008). Genome-wide association studies support for the association of MAFB and NSCLP (Yuan et al., 2011).
Disease Cleft lip is a type of clefting congenital deformity caused by abnormal facial development during gestation. It is the non-fusion of the body's natural structures that form before birth. A cleft lip or palate can be successfully treated with surgery, especially so if conducted soon after birth or in early childhood.


MafB/c-Maf deficiency enables self-renewal of differentiated functional macrophages.
Aziz A, Soucie E, Sarrazin S, Sieweke MH.
Science. 2009 Nov 6;326(5954):867-71. doi: 10.1126/science.1176056.
PMID 19892988
Balance of MafB and PU.1 specifies alternative macrophage or dendritic cell fate.
Bakri Y, Sarrazin S, Mayer UP, Tillmanns S, Nerlov C, Boned A, Sieweke MH.
Blood. 2005 Apr 1;105(7):2707-16. Epub 2004 Dec 14.
PMID 15598817
High-dose chemotherapy with hematopoietic stem-cell rescue for multiple myeloma.
Child JA, Morgan GJ, Davies FE, Owen RG, Bell SE, Hawkins K, Brown J, Drayson MT, Selby PJ; Medical Research Council Adult Leukaemia Working Party.
N Engl J Med. 2003 May 8;348(19):1875-83.
PMID 12736280
The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor.
Cordes SP, Barsh GS.
Cell. 1994 Dec 16;79(6):1025-34.
PMID 8001130
A new MAFia in cancer.
Eychene A, Rocques N, Pouponnot C.
Nat Rev Cancer. 2008 Sep;8(9):683-93. doi: 10.1038/nrc2460. (REVIEW)
PMID 19143053
The vitamin D3/Hox-A10 pathway supports MafB function during the monocyte differentiation of human CD34+ hemopoietic progenitors.
Gemelli C, Orlandi C, Zanocco Marani T, Martello A, Vignudelli T, Ferrari F, Montanari M, Parenti S, Testa A, Grande A, Ferrari S.
J Immunol. 2008 Oct 15;181(8):5660-72.
PMID 18832725
Pax6 controls the expression of critical genes involved in pancreatic {alpha} cell differentiation and function.
Gosmain Y, Marthinet E, Cheyssac C, Guerardel A, Mamin A, Katz LS, Bouzakri K, Philippe J.
J Biol Chem. 2010 Oct 22;285(43):33381-93. doi: 10.1074/jbc.M110.147215. Epub 2010 Jun 30.
PMID 20592023
MafB is an inducer of monocytic differentiation.
Kelly LM, Englmeier U, Lafon I, Sieweke MH, Graf T.
EMBO J. 2000 May 2;19(9):1987-97.
PMID 10790365
Expression of a novel gene, MafB, in Dupuytren's disease.
Lee LC, Zhang AY, Chong AK, Pham H, Longaker MT, Chang J.
J Hand Surg Am. 2006 Feb;31(2):211-8.
PMID 16473681
MafB is essential for renal development and F4/80 expression in macrophages.
Moriguchi T, Hamada M, Morito N, Terunuma T, Hasegawa K, Zhang C, Yokomizo T, Esaki R, Kuroda E, Yoh K, Kudo T, Nagata M, Greaves DR, Engel JD, Yamamoto M, Takahashi S.
Mol Cell Biol. 2006 Aug;26(15):5715-27.
PMID 16847325
Low-density lipoprotein receptor-related protein interacts with MafB, a regulator of hindbrain development.
Petersen HH, Hilpert J, Jacobsen C, Lauwers A, Roebroek AJ, Willnow TE.
FEBS Lett. 2004 May 7;565(1-3):23-7.
PMID 15135046
Multiple Myeloma Treatment & Management.
Seiter K, Shah D, Chansky H, Gellman H, Grethlein S, Krishnan K, Rizvi S, Schmitz M, Talavera F, Thomas L.
In Besa, EC. Medscape Reference. WebMD. 2013.
Extracellular signal-regulated kinase induces the megakaryocyte GPIIb/CD41 gene through MafB/Kreisler.
Sevinsky JR, Whalen AM, Ahn NG.
Mol Cell Biol. 2004 May;24(10):4534-45.
PMID 15121870
MafB is an interaction partner and repressor of Ets-1 that inhibits erythroid differentiation.
Sieweke MH, Tekotte H, Frampton J, Graf T.
Cell. 1996 Apr 5;85(1):49-60.
PMID 8620536
MafB oncoprotein detected by immunohistochemistry as a highly sensitive and specific marker for the prognostic unfavorable t(14;20) (q32;q12) in multiple myeloma patients.
Stralen E, Leguit RJ, Begthel H, Michaux L, Buijs A, Lemmens H, Scheiff JM, Doyen C, Pierre P, Forget F, Clevers HC, Bast B.
Leukemia. 2009 Apr;23(4):801-3. doi: 10.1038/leu.2008.284. Epub 2008 Oct 2.
PMID 18830254
SUMO modification regulates MafB-driven macrophage differentiation by enabling Myb-dependent transcriptional repression.
Tillmanns S, Otto C, Jaffray E, Du Roure C, Bakri Y, Vanhille L, Sarrazin S, Hay RT, Sieweke MH.
Mol Cell Biol. 2007 Aug;27(15):5554-64. Epub 2007 Jun 4.
PMID 17548468
MafA and MafB regulate Pdx1 transcription through the Area II control region in pancreatic beta cells.
Vanhoose AM, Samaras S, Artner I, Henderson E, Hang Y, Stein R.
J Biol Chem. 2008 Aug 15;283(33):22612-9. doi: 10.1074/jbc.M802902200. Epub 2008 Jun 3.
PMID 18522939
A novel molecular mechanism involved in multiple myeloma development revealed by targeting MafB to haematopoietic progenitors.
Vicente-Duenas C, Romero-Camarero I, Gonzalez-Herrero I, Alonso-Escudero E, Abollo-Jimenez F, Jiang X, Gutierrez NC, Orfao A, Marin N, Villar LM, Criado MC, Pintado B, Flores T, Alonso-Lopez D, De Las Rivas J, Jimenez R, Criado FJ, Cenador MB, Lossos IS, Cobaleda C, Sanchez-Garcia I.
EMBO J. 2012 Sep 12;31(18):3704-17. doi: 10.1038/emboj.2012.227. Epub 2012 Aug 17.
PMID 22903061
Unraveling human cleft lip and palate research.
Vieira AR.
J Dent Res. 2008 Feb;87(2):119-25. (REVIEW)
PMID 18218836
Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias.
Wang PW, Eisenbart JD, Cordes SP, Barsh GS, Stoffel M, Le Beau MM.
Genomics. 1999 Aug 1;59(3):275-81.
PMID 10444328
Refinement of the commonly deleted segment in myeloid leukemias with a del(20q).
Wang PW, Iannantuoni K, Davis EM, Espinosa R 3rd, Stoffel M, Le Beau MM.
Genes Chromosomes Cancer. 1998 Feb;21(2):75-81.
PMID 9491317
Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate.
Yuan Q, Blanton SH, Hecht JT.
Am J Med Genet A. 2011 Jun;155A(6):1469-71. doi: 10.1002/ajmg.a.33940. Epub 2011 May 12.
PMID 21567910
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA.
Am J Hum Genet. 2012 Mar 9;90(3):494-501. doi: 10.1016/j.ajhg.2012.01.003. Epub 2012 Mar 1.
PMID 22387013
TFE3 transcription factor regulates the expression of MAFB during macrophage differentiation.
Zanocco-Marani T, Vignudelli T, Parenti S, Gemelli C, Condorelli F, Martello A, Selmi T, Grande A, Ferrari S.
Exp Cell Res. 2009 Jul 1;315(11):1798-808. doi: 10.1016/j.yexcr.2009.03.018. Epub 2009 Mar 28.
PMID 19332055


This paper should be referenced as such :
Carolina Vicente-Dueas, Ines Gonzalez-Herrero, Idoia Garcia-Ramirez, Isidro Sanchez-Garcia
MAFB (v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B)
Atlas Genet Cytogenet Oncol Haematol. 2015;19(7):453-457.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  Multiple myeloma (published in 2004)
Multiple Myeloma
t(14;20)(q32;q12) IGH/MAFB in Plasma Cell Myeloma

External links

HGNC (Hugo)MAFB   6408
Entrez_Gene (NCBI)MAFB  9935  MAF bZIP transcription factor B
GeneCards (Weizmann)MAFB
Ensembl hg19 (Hinxton)ENSG00000204103 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204103 [Gene_View]  ENSG00000204103 [Sequence]  chr20:40685848-40689240 [Contig_View]  MAFB [Vega]
ICGC DataPortalENSG00000204103
Genatlas (Paris)MAFB
SOURCE (Princeton)MAFB
Genetics Home Reference (NIH)MAFB
Genomic and cartography
GoldenPath hg38 (UCSC)MAFB  -     chr20:40685848-40689240 -  20q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAFB  -     20q12   [Description]    (hg19-Feb_2009)
GoldenPathMAFB - 20q12 [CytoView hg19]  MAFB - 20q12 [CytoView hg38]
Mapping of homologs : NCBIMAFB [Mapview hg19]  MAFB [Mapview hg38]
OMIM166300   608968   617041   
Gene and transcription
Genbank (Entrez)AF086178 AF134157 AK027324 BC028098 BC036689
RefSeq transcript (Entrez)NM_005461
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAFB
Cluster EST : UnigeneHs.169487 [ NCBI ]
CGAP (NCI)Hs.169487
Alternative Splicing GalleryENSG00000204103
Gene ExpressionMAFB [ NCBI-GEO ]   MAFB [ EBI - ARRAY_EXPRESS ]   MAFB [ SEEK ]   MAFB [ MEM ]
Gene Expression Viewer (FireBrowse)MAFB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9935
GTEX Portal (Tissue expression)MAFB
Human Protein AtlasENSG00000204103-MAFB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5Q3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5Q3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5Q3
Splice isoforms : SwissVarQ9Y5Q3
Domaine pattern : Prosite (Expaxy)BZIP (PS50217)   
Domains : Interpro (EBI)bZIP    bZIP_Maf    Maf_TF_N    MafB    TF_DNA-bd_sf    Transciption_factor_Maf_fam   
Domain families : Pfam (Sanger)bZIP_Maf (PF03131)    Maf_N (PF08383)   
Domain families : Pfam (NCBI)pfam03131    pfam08383   
Domain families : Smart (EMBL)BRLZ (SM00338)  
Conserved Domain (NCBI)MAFB
DMDM Disease mutations9935
Blocks (Seattle)MAFB
Human Protein Atlas [tissue]ENSG00000204103-MAFB [tissue]
Peptide AtlasQ9Y5Q3
Protein Interaction databases
IntAct (EBI)Q9Y5Q3
Ontologies - Pathways
Ontology : AmiGORNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleus  transcription factor complex  regulation of transcription, DNA-templated  segment specification  sensory organ development  respiratory gaseous exchange  transcription factor binding  rhombomere 5 development  rhombomere 6 development  abducens nerve formation  T cell differentiation in thymus  brain segmentation  inner ear morphogenesis  protein homodimerization activity  sequence-specific DNA binding  negative regulation of erythrocyte differentiation  negative regulation of osteoclast differentiation  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  thymus development  
Ontology : EGO-EBIRNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  DNA-binding transcription factor activity  protein binding  nucleus  transcription factor complex  regulation of transcription, DNA-templated  segment specification  sensory organ development  respiratory gaseous exchange  transcription factor binding  rhombomere 5 development  rhombomere 6 development  abducens nerve formation  T cell differentiation in thymus  brain segmentation  inner ear morphogenesis  protein homodimerization activity  sequence-specific DNA binding  negative regulation of erythrocyte differentiation  negative regulation of osteoclast differentiation  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  thymus development  
REACTOMEQ9Y5Q3 [protein]
REACTOME PathwaysR-HSA-5617472 [pathway]   
NDEx NetworkMAFB
Atlas of Cancer Signalling NetworkMAFB
Wikipedia pathwaysMAFB
Orthology - Evolution
GeneTree (enSembl)ENSG00000204103
Phylogenetic Trees/Animal Genes : TreeFamMAFB
Homologs : HomoloGeneMAFB
Homology/Alignments : Family Browser (UCSC)MAFB
Gene fusions - Rearrangements
Fusion : MitelmanIGH/MAFB [14q32.33/20q12]  [t(11;14)(q13;q32)]  [t(14;16)(q32;q23)]  
[t(14;20)(q32;q12)]  [t(4;14)(p16;q32)]  [t(6;14)(p21;q32)]  
Fusion : FusionGDB20553    42516   
Fusion : Fusion_HubIGH@--MAFB    MAF--MAFB    MAFB--MAF    MAFB--WDR48    ZBTB46--MAFB   
Fusion : QuiverMAFB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAFB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAFB
Exome Variant ServerMAFB
ExAC (Exome Aggregation Consortium)ENSG00000204103
GNOMAD BrowserENSG00000204103
Varsome BrowserMAFB
Genetic variants : HAPMAP9935
Genomic Variants (DGV)MAFB [DGVbeta]
DECIPHERMAFB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAFB 
ICGC Data PortalMAFB 
TCGA Data PortalMAFB 
Broad Tumor PortalMAFB
OASIS PortalMAFB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAFB  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMAFB
Mutations and Diseases : HGMDMAFB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch MAFB
DgiDB (Drug Gene Interaction Database)MAFB
DoCM (Curated mutations)MAFB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAFB (select a term)
NCG5 (London)MAFB
Cancer3DMAFB(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM166300    608968    617041   
Orphanet1039    2524   
Genetic Testing Registry MAFB
NextProtQ9Y5Q3 [Medical]
Target ValidationMAFB
Huge Navigator MAFB [HugePedia]
snp3D : Map Gene to Disease9935
ClinGenMAFB (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9935
Chemical/Pharm GKB GenePA30535
Clinical trialMAFB
canSAR (ICR)MAFB (select the gene name)
DataMed IndexMAFB
PubMed84 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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