MAFB
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2WT7, 2WTY, 4AUW
Identifiers
Aliases	MAFB, KRML, MCTO, MAF bZIP transcription factor B, DURS3
External IDs	OMIM: 608968 MGI: 104555 HomoloGene: 31315 GeneCards: MAFB
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q12 Start 40,685,848 bp[1] End 40,689,236 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 H2|2 80.92 cM Start 160,205,623 bp[2] End 160,208,985 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in glomerulus gums metanephric glomerulus synovial membrane human penis synovial joint nipple tibia palpebral conjunctiva amniotic fluid Top expressed in molar temporal muscle glomerulus sternocleidomastoid muscle lip digastric muscle left lobe of liver triceps brachii muscle skin of back masseter muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific transcription factor binding RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding protein homodimerization activity protein heterodimerization activity sequence-specific double-stranded DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific sequence-specific DNA binding Cellular component transcription regulator complex nucleus Biological process T cell differentiation in thymus negative regulation of osteoclast differentiation brain segmentation thymus development transcription by RNA polymerase II respiratory gaseous exchange by respiratory system segment specification negative regulation of erythrocyte differentiation nervous system development transcription, DNA-templated rhombomere 6 development rhombomere 5 development inner ear morphogenesis sensory organ development positive regulation of transcription by RNA polymerase II regulation of transcription, DNA-templated abducens nerve formation regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9935 16658 Ensembl ENSG00000204103 ENSMUSG00000074622 UniProt Q9Y5Q3 P54841 RefSeq (mRNA) NM_005461 NM_010658 RefSeq (protein) NP_005452 NP_034788 Location (UCSC) Chr 20: 40.69 – 40.69 Mb Chr 2: 160.21 – 160.21 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transcription factor MafB also known as V-maf musculoaponeurotic fibrosarcoma oncogene homolog B is a protein that in humans is encoded by the MAFB gene. This gene maps to chromosome 20q11.2-q13.1, consists of a single exon and spans around 3 kb.^[5][6]

Function

MafB 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.^[6]

Clinical significance

Mutations in the murine Mafb gene are responsible for the mutant mouse Kreisler (kr) that presents an abnormal segmentation of the hindbrain and exhibit hyperactive behavior, including head tossing and running in circles.^[7] This mice dies at birth due to renal failure whereas the Mafb -/- mice dies of central apnea.^[8]

Recently, single-nucleotide polymorphisms (SNPs) near MAFB have been found associated with nonsyndromic cleft lip and palate. ^[9] The GENEVA Cleft Consortium study, a genomewide association study involving 1,908 case-parent trios from Europe, the United States, China, Taiwan, Singapore, Korea, and the Philippines, first identified MAFB as being associated with cleft lip and/or palate with stronger genome-wide significance in Asian than European populations. The difference in populations could reflect variable coverage by available markers or true allelic heterogeneity. ^[10] In mouse models, Mafb mRNA and protein were detected in both craniofacial ectoderm and neural crest-derived mesoderm between embryonic days 13.5 and 14.5; expression was strong in the epithelium around the palatal shelves and in the medial edge epithelium during palatal fusion. After fusion, Mafb expression was stronger in oral epithelium compared to mesenchymal tissue.^[9] In addition, sequencing analysis detected a new missense mutation in the Filipino population, H131Q, that was significantly more frequent in cases than in matched controls.^[9] The gene-poor regions either side of the MAFB gene include numerous binding sites for transcription factors that are known to have a role in palate development. ^[11]