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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MAFB Gene

protein-coding GIFtS: 57
GCID: GC20M039314

v-maf musculoaponeurotic fibrosarcoma oncogene homolog B...

(Previous name: Kreisler (mouse) maf-related leucine zipper homolog )
(Previous symbol: KRML)

Explore 15 diseases affiliated with
MAFB via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B (Avian)¹ ²		MAFB/Kreisler Basic Region/Leucine Zipper Transcription Factor²
KRML¹ ² ³ ⁵		Transcription Factor MafB²
Kreisler (Mouse) Maf-Related Leucine Zipper Homolog¹		Maf-B³
MCTO²		V-Maf Musculoaponeurotic Fibrosarcoma Oncogene Homolog B³
Kreisler Maf-Related Leucine Zipper Homolog²

External Ids:	HGNC: 6408¹	Entrez Gene: 9935²	Ensembl: ENSG00000204103⁷	OMIM: 608968⁵	UniProtKB: Q9Y5Q3³

Export aliases for MAFB gene to outside databases

Previous GC identifers: GC20M039043 GC20M039952 GC20M039999 GC20M038747 GC20M036052

(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 MAFB:

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)

UniProtKB/Swiss-Prot: MAFB_HUMAN, Q9Y5Q3

Function: Acts as a transcriptional activator or repressor. 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, 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

Gene Wiki entry for MAFB

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MAFB gene promoter:
AhR STAT1 STAT1beta Cdc5 STAT1alpha Arnt MEF-2A aMEF-2 NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MAFB promoter sequence

Search SABiosciences Chromatin IP Primers for MAFB

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MAFB

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.2-q13.1 Ensembl cytogenetic band: 20q12 HGNC cytogenetic band: 20q11.1-q13.1

MAFB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAFB gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M039314: view genomic region (about GC identifiers)

Start:	39,314,488 bp from pter	End:	39,317,880 bp from pter
Size:	3,393 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, 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,
Biochemical Assays by 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: MAFB_HUMAN, Q9Y5Q3 (See protein sequence)

Recommended Name: Transcription factor MafB

Size: 323 amino acids; 35792 Da

Subunit: 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

Subcellular location: Nucleus (By similarity)

Secondary accessions: B3KNE1 Q9H1F1

Explore the universe of human proteins at neXtProt for MAFB: NX_Q9Y5Q3

Post-translational modifications:

Phosphorylated by GSK3 and MAPK13 on serine and threonine residues (Probable)¹

Sumoylated. Sumoylation on Lys-32 and Lys-297 stimulates its transcriptional repression activity and promotes

macrophage differentiation from myeloid progenitors (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y5Q3

MAFB Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005452.2

ENSEMBL proteins:

ENSP00000362410 ENSP00000380167

Human Recombinant Protein Products:

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	Novus Biologicals MAFB Proteins Novus Biologicals MAFB Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MAFB

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	TAS	8001130
GO:0005667	transcription factor complex	IEA	--

MAFB for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MAFB

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

MAFB for domains About GeneDecksing

5 InterPro domains/families:

IPR004827 bZIP

IPR024874 Transciption_factor_Maf

IPR008917 Euk_TF_DNA-bd

IPR004826 bZIP_Maf

IPR013592 Maf_TF_N

Graphical View of Domain Structure for InterPro Entry Q9Y5Q3

ProtoNet protein and cluster: Q9Y5Q3

2 Blocks protein families:

IPB004826 Maf transcription factor

IPB013592 Maf transcription factor

UniProtKB/Swiss-Prot: MAFB_HUMAN, Q9Y5Q3

Domain: The leucine-zipper domain is involved in the interaction with LRPICD

Similarity: Belongs to the bZIP family. Maf subfamily

Similarity: Contains 1 bZIP (basic-leucine zipper) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MAFB_HUMAN, Q9Y5Q3

Function: Acts as a transcriptional activator or repressor. 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, 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

miRNA Products:		miRTarBase miRNAs that target MAFB: hsa-mir-155 (MIRT004507), hsa-mir-135b (MIRT005442), hsa-mir-130a (MIRT001141)

		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MAFB
		8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate MAFB (see all 88):
		hsa-miR-548j hsa-miR-640 hsa-miR-607 hsa-miR-188-5p hsa-miR-631 hsa-miR-300 hsa-miR-485-3p hsa-miR-605

		SwitchGear 3'UTR luciferase reporter plasmid: MAFB 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MAFB (see all 7) OriGene shRNA RFP: MAFB OriGene siRNA: MAFB
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Gene Editing
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		GenScript: all cDNA clones in your preferred vector: MAFB (NM_005461)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAFB

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MAFB
		Search LifeMap BioReagents cell lines for MAFB

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAFB

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0005515	protein binding	IPI	--
GO:0008134	transcription factor binding	IDA	10698492
GO:0043565	sequence-specific DNA binding	IEA	--

MAFB for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for MAFB:

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-out Mafb^tm1Jeng for MAFB
15 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Mafb):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
endocrine/exocrine gland	hearing/vestibular/ear	homeostasis/metabolism	immune system	mortality/aging
nervous system	renal/urinary system	reproductive system	respiratory system	skeleton

MAFB for phenotypes About GeneDecksing

(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 ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, 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

Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

1.00

1 PharmGKB Pathway for MAFB

Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MAFB

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/19 Interacting proteins for MAFB (Q9Y5Q3^{1, 3} ENSP00000362410⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IRF3	Q14653¹^,³, ENSP00000310127⁴	EBI-3649340,EBI-2650369 I2D: score=2 STRING: ENSP00000310127
JUN	P05412³, ENSP00000360266⁴	I2D: score=3 STRING: ENSP00000360266
CREBBP	Q92793³, ENSP00000262367⁴	I2D: score=2 STRING: ENSP00000262367
IRF7	Q92985³, ENSP00000329411⁴	I2D: score=2 STRING: ENSP00000329411
HOXD12	P35452³, ENSP00000385586⁴	I2D: score=1 STRING: ENSP00000385586

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:0006351	transcription, DNA-dependent	IEA	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	--	--
GO:0007379	segment specification	IEA	--
GO:0007423	sensory organ development	TAS	8001130
GO:0007585	respiratory gaseous exchange	IEA	--

MAFB for ontologies About GeneDecksing

(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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MAFB
Search CenterWatch for drugs/clinical trials and news about MAFB

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MAFB gene:

NM_005461.3

Unigene Cluster for MAFB:

V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)

Hs.169487 [show with all ESTs]

Unigene Representative Sequence: NM_005461

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000373313(uc002xji.3) ENST00000396967

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MAFB
		8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate MAFB (see all 88):
		hsa-miR-548j hsa-miR-640 hsa-miR-607 hsa-miR-188-5p hsa-miR-631 hsa-miR-300 hsa-miR-485-3p hsa-miR-605

		SwitchGear 3'UTR luciferase reporter plasmid: MAFB 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MAFB (see all 7) OriGene shRNA RFP: MAFB OriGene siRNA: MAFB
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MAFB (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MAFB OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MAFB (NM_005461)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAFB
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAFB

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MAFB Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAFB
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAFB

Additional cDNA sequence:

AF086178.1 AF134157.1 AK027324.1 BC028098.1 BC036689.1

7 DOTS entries:

DT.100752412 DT.416351 DT.100752413 DT.120797989 DT.120797963 DT.92042090 DT.120797961

24/178 AceView cDNA sequences (see all 178):

AW140037 AI375644 BQ614319 BU783903 AA725480 CA772764 AI650671 CR611755

BU790225 AI027385 NM_005461 AK027324 BI714773 CA842975 AI092862 AI168227

CA776398 BF437137 C02406 BQ632148 CK903223 BQ710402 BQ022529 AF086178

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MAFB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAAATAAGG

About this image

MAFB expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/21 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 21)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Podocyte Layer

Presumptive Podocytes

Selective marker (cell-identifying gene)

Kidney

S-shaped Body Proximal Segment

S-shaped Body Proximal Cells

Kidney

Pancreas

Dorsal Pancreatic Bud

Immature Beta Progenitor Cells

Pancreas

Dorsal Pancreatic Bud

Intermediate Beta Progenitor Cells

Pancreas

Pancreas

Kidney

Dorsal Pancreatic Bud

Beta/Delta Progenitor Cells

Pancreas

Dorsal Pancreatic Bud

Early Beta Progenitor Cells

Pancreas

Islets of Langerhans

Alpha Cells

Pancreas

Ventral Pancreatic Bud

Beta/Delta Progenitor Cells

Pancreas

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 9 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)

Blood, Endothelium

Sclerotome cells (Primary Cell)

Bone, Cartilage, Somite

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)

Endothelium

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

See MAFB Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MAFB

SOURCE GeneReport for Unigene cluster: Hs.169487

UniProtKB/Swiss-Prot: MAFB_HUMAN, Q9Y5Q3

Tissue specificity: Ubiquitous

SABiosciences Expression via Pathway-Focused PCR Arrays including MAFB:

Terminal Differentiation Markers in human mouse rat

Cancer Drug Resistance in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MAFB Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAFB

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAFB

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MAFB gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MAFB¹	v-maf musculoaponeurotic fibrosarcoma oncogene homolog more	81.66(n) 84.79(a)		419173 NM_001030852.1 NP_001026023.1
lizard (Anolis carolinensis)	Reptilia	--	--	42(a)	possible ortholog	LGc(4938213-4938791)
African clawed frog (Xenopus laevis)	Amphibia	Xl.24839²	Xenopus laevis bZIP transcription factor mafB (mafB) more	82.08(n)		AF202058.1
zebrafish (Danio rerio)	Actinopterygii	val²	valentino	81.95(n)		30210 AB006322.1
fruit fly (Drosophila melanogaster)	Insecta	tj⁶	traffic jam	19(a)	1 → many	2L(19464267-19467758)
worm (Caenorhabditis elegans)	Secernentea	maf-1⁶	--	27(a)	possible ortholog	I(10382737-10384213)

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

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

Paralogs for MAFB gene

NRL² MAFF² MAFG² MAFA² MAFK² MAF²

4 SIMAP similar genes for MAFB using alignment to 2 protein entries: MAFB_HUMAN (see all proteins):

MAFK MAF MAFA NRL

MAFB for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, 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

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs55991918^1,2	C,F,	--	36051990(+)	`TTGCAC/TCCCAG`	1	--	ds500¹		1		NA	120
rs74760275^1,2		--	36052061(+)	`TCAAGG/TTGGCA`	1	--	ds500¹		2		CSA WA	120
rs7273145^1,2	C,F,	--	36052165(+)	`TGGCGT/CGTGCC`	1	--	ds500¹		1		WA	118
rs56049320^1,2	C,	--	36052452(+)	`TTTCCA/TTGGTT`	1	--	ds500¹		3		NA	124
rs3577^1,2	C,F,H,	--	36052611(+)	`GTTGCG/AGCAGG`	1	--	ut3¹ ese³		17		MN NS EA NA	2178
rs200334909^1,2	C	--	36053530(+)	`TTTTTC/TTTTTT`	1	--	ut3¹		0	--	--	--	--
rs11543155^1,2	C	--	36053542(+)	`TTTTTC/TTTTTT`	1	--	ut3¹		0	--	--	--	--
rs79291578^1,2	C,F,	--	36056064(+)	`CCCCCG/CTACCC`	1	--	us2k¹		1		NA	120
rs79893124^1,2	F,	--	36056344(+)	`TGCGCG/ATATTT`	1	--	us2k¹		1		WA	118
rs76265751^1,2	F,	--	36056478(+)	`GGTTCG/AACTCC`	1	--	us2k¹		2		WA EA	238

HapMap Linkage Disequilibrium report for MAFB (39314488 - 39317880 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MAFB: --
Human Gene Mutation Database (HGMD): MAFB

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MAFB

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MAFB for disorders About GeneDecksing

OMIM gene information: 608968 OMIM disorders: --

UniProtKB/Swiss-Prot: MAFB_HUMAN, Q9Y5Q3

Defects in MAFB are the cause of multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]. 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

15 diseases for MAFB: About MalaCards

posterior polar cataract fibrosarcoma hematopoiesis orofacial cleft

cleft lip cleft palate cataract multiple myeloma

rheumatoid arthritis myeloid leukemia myeloma arthritis

leukemia multicentric carpotarsal osteolysis syndrome osteolysis

2 diseases from the University of Copenhagen DISEASES database for MAFB:

Multiple myeloma Monoclonal gammopathy of uncertain significance

Human Genome Epidemiology (HuGE) Navigator: MAFB (3 documents)

Export disorders for MAFB gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MAFB gene, integrated from 9 sources (see all 55):
(articles sorted by number of sources associating them with MAFB)

Utopia: connect your pdf to the dynamic
world of online information

Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias. (PubMed id 10444328)^{1, 2, 3, 9} Wang P.W....Le Beau M.M. (1999)
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. (PubMed id 22387013)^{1, 2} Zankl A....Brown M.A. (2012)
Low-density lipoprotein receptor-related protein interacts with MafB, a regulator of hindbrain development. (PubMed id 15135046)^{1, 2} Petersen H.H....Willnow T.E. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Balance of MafB and PU.1 specifies alternative macrophage or dendritic cell fate. (PubMed id 15598817)^{1, 9} Bakri Y....Sieweke M.H. (2005)
Virally mediated MafB transduction induces the monocyte commitment of human CD34+ hematopoietic stem/progenitor cells. (PubMed id 16456583)^{1, 9} Gemelli C....Ferrari S. (2006)
Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in Rheumatoid Arthritis. (PubMed id 18615156)^{1, 9} Liu C....Gregersen P.K. (2008)
The vitamin D3/Hox-A10 pathway supports MafB function during the monocyte differentiation of human CD34+ hemopoietic progenitors. (PubMed id 18832725)^{1, 9} Gemelli C....Ferrari S. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9935	HGNC: 6408	AceView: MAFB	Ensembl:ENSG00000204103	euGenes: HUgn9935
ECgene: MAFB	H-InvDB: MAFB

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for MAFB	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MAFB	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for MAFB gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MAFB gene:
Search GeneIP for patents involving MAFB

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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