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Gene

MAFB

MAF bZIP transcription factor B

Summary

Cytogenetic location
20q12
Coordinates
Chromosome 20: 40,685,848–40,689,236 (GRCh38)
Exons
1 exon across 3.4 kb
Protein
323 amino acids
Inheritance
Autosomal dominant
Previous symbols
KRML
MANE Select transcript
ENST00000373313.3NM_005461.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Congenital Cranial Dysinnervation Disorders

    • Duane Retraction SyndromeAutosomal dominant

      A condition in which sideways eye movement is limited and the eye retracts on certain movements; inherited forms are caused by changes in genes such as CHN1 and MAFB.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the cause informs recurrence risk and helps check for associated features in syndromic forms.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How MAFB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 20, with a bracket where MAFB sits. MAFB and 3 genes near it on chromosome 20, from 40,187,542 to 41,187,541.Chromosome 2020q12p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3340.2 Mb40.4 Mb40.6 Mb40.8 Mb41 MbMAFB: 40,685,848–40,689,236, reverse strandMAFBTOP1: 41,028,815–41,124,487, forward strandTOP1PLCG1: 41,136,931–41,196,801, forward strandPLCG1ZHX3: 41,178,448–41,317,783, reverse strandZHX3Diagram of MAFB: one exon on the reverse strand of chromosome 20Exon 1: 11 known disease-causing sitesExon 1: 40,685,848–40,689,236, 3,389 bases15′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.4 kb of the gene's 3.4 kb; 972 of those bases code for the protein.

How a genome test reads MAFB

11

positions in MAFB where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 3.4 kb of MAFB, introns included, not only the 3.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MAFB gene: MAF bZIP transcription factor B. Retrieved 17 October 2026, from https://dantelabs.com/genes/mafb

Vancouver

Dante Labs. MAFB gene: MAF bZIP transcription factor B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mafb

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