Format

Send to:

Choose Destination

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

Gene ID: 9935, updated on 10-Jun-2018
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
See MAFB in Genome Data Viewer
Location:
20q12
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 VISTA enhancer hs1086 Neighboring gene small nucleolar RNA, C/D box 154

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Duane retraction syndrome 3 with or without deafness
MedGen: C4310752 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
 
positive regulation of transcription by RNA polymerase II 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 by RNA polymerase II 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
    ENSP00000362410.2, OTTHUMP00000031698, ENST00000373313.2, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

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