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    MAFB MAF bZIP transcription factor B [ Homo sapiens (human) ]

    Gene ID: 9935, updated on 12-Mar-2017
    Official Symbol
    MAFBprovided by HGNC
    Official Full Name
    MAF bZIP transcription factor Bprovided by HGNC
    Primary source
    HGNC:HGNC:6408
    See related
    Ensembl:ENSG00000204103 MIM:608968; Vega:OTTHUMG00000033052
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KRML; MCTO; DURS3
    Summary
    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]
    Orthologs
    Location:
    20q12
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (40685848..40689240, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (39314488..39317880, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724968 Neighboring gene uncharacterized LOC107985435 Neighboring gene uncharacterized LOC105372620 Neighboring gene uncharacterized LOC101927098 Neighboring gene RNA, 5S ribosomal pseudogene 484

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Duane retraction syndrome 3 with or without deafness
    MedGen: CN237403 OMIM: 617041 GeneReviews: Not available
    not available
    Multicentric osteolysis nephropathy
    MedGen: C2674705 OMIM: 166300 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2015-05-21)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2015-05-21)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
    NHGRI GWA Catalog
    Genome-wide association study of serious blistering skin rash caused by drugs.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Wnt signaling and Dupuytren's disease.
    NHGRI GWA Catalog
    • Activation of HOX genes during differentiation, organism-specific biosystem (from REACTOME)
      Activation of HOX genes during differentiation, organism-specific biosystemHox genes encode proteins that contain the DNA-binding homeobox motif and control early patterning of segments in the embryo as well as later events in development (reviewed in Rezsohazy et al. 2015)...
    • Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystem (from REACTOME)
      Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystemIn mammals, anterior Hox genes may be defined as paralog groups 1 to 4 (Natale et al. 2011), which are involved in development of the hindbrain through sequential expression in the rhombomeres, trans...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC43127

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    abducens nerve formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    brain segmentation IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of erythrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of osteoclast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    respiratory gaseous exchange IEA
    Inferred from Electronic Annotation
    more info
     
    rhombomere 5 development IEA
    Inferred from Electronic Annotation
    more info
     
    rhombomere 6 development IEA
    Inferred from Electronic Annotation
    more info
     
    segment specification IEA
    Inferred from Electronic Annotation
    more info
     
    sensory organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    transcription factor MafB
    Names
    Kreisler maf-related leucine zipper homolog
    MAFB/Kreisler basic region/leucine zipper transcription factor
    v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023378.1 RefSeqGene

      Range
      4997..8389
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005461.4NP_005452.2  transcription factor MafB

      See identical proteins and their annotated locations for NP_005452.2

      Status: REVIEWED

      Source sequence(s)
      AF134157, BC028098, BQ271704, DA719830
      Consensus CDS
      CCDS13311.1
      UniProtKB/Swiss-Prot
      Q9Y5Q3
      Related
      ENSP00000362410, OTTHUMP00000031698, ENST00000373313, OTTHUMT00000080375
      Conserved Domains (2) summary
      cd14718
      Location:233302
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:80113
      Maf_N; Maf N-terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      40685848..40689240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      39218912..39222304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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