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Gene

CBFB

core-binding factor subunit beta

Summary

Cytogenetic location
16q22.1
Coordinates
Chromosome 16: 67,029,149–67,101,058 (GRCh38)
Exons
6 exons across 71.9 kb
Protein
187 amino acids
Inheritance
Autosomal dominant
Also known as
PEBP2B
MANE Select transcript
ENST00000412916.7NM_022845.3
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

  • Cleidocranial Dysplasia

    • Cleidocranial dysplasia 2 (CBFB-related)Autosomal dominant

      A rarer form of cleidocranial dysplasia caused by CBFB variants.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong

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 CBFB is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 16, with a bracket where CBFB sits. CBFB and 41 genes near it on chromosome 16, from 66,565,104 to 67,565,103.Chromosome 1616q22.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.366.6 Mb66.8 Mb67 Mb67.2 Mb67.4 MbCKLF: 66,552,563–66,566,251, forward strandCKLF-CMTM1: 66,552,587–66,579,135, forward strandCKLF-CMTM1CMTM1: 66,566,393–66,579,137, forward strandCMTM1CMTM2: 66,579,432–66,588,280, forward strandCMTM2CMTM3: 66,603,874–66,613,892, forward strandCMTM3CMTM4: 66,614,750–66,696,856, reverse strandCMTM4DYNC1LI2: 66,720,893–66,751,856, reverse strandDYNC1LI2TERB1: 66,754,640–66,801,620, reverse strandTERB1NAE1: 66,802,874–66,873,256, reverse strandNAE1CA7: 66,844,414–66,854,153, forward strandCA7PDP2: 66,878,589–66,895,754, forward strandPDP2CDH16: 66,908,122–66,919,187, reverse strandCDH16RRAD: 66,921,682–66,926,308, reverse strandRRADCIAO2B: 66,931,938–66,934,929, reverse strandCIAO2BCES2: 66,934,433–66,945,096, forward strandCES2CES3: 66,961,219–66,975,162, forward strandCES3CES4A: 66,988,574–67,010,417, forward strandCES4ACBFB: 67,029,149–67,101,058, forward strandCBFBPHAF1: 67,109,941–67,148,544, forward strandPHAF1B3GNT9: 67,142,023–67,151,260, reverse strandB3GNT9TRADD: 67,153,969–67,163,760, reverse strandTRADDFBXL8: 67,159,932–67,164,570, forward strandFBXL8: 67,163,385–67,165,815, forward strandHSF4: 67,164,681–67,169,945, forward strandNOL3: 67,170,154–67,176,189, forward strandMATCAP1: 67,175,599–67,184,228, reverse strandEXOC3L1: 67,184,313–67,190,242, reverse strandE2F4: 67,192,117–67,198,919, forward strandELMO3: 67,199,105–67,204,029, forward strandTMEM208: 67,227,103–67,229,281, forward strandTMEM208FHOD1: 67,229,387–67,247,539, reverse strandFHOD1SLC9A5: 67,237,683–67,272,191, forward strandSLC9A5PLEKHG4: 67,277,510–67,289,499, forward strandPLEKHG4KCTD19: 67,289,428–67,326,766, reverse strandKCTD19LRRC36: 67,326,798–67,385,221, forward strandLRRC36TPPP3: 67,389,027–67,393,518, reverse strandTPPP3ZDHHC1: 67,394,152–67,416,833, reverse strandZDHHC1HSD11B2: 67,430,652–67,437,553, forward strandHSD11B2ATP6V0D1: 67,437,523–67,481,227, reverse strandATP6V0D1AGRP: 67,482,571–67,483,552, reverse strandAGRPRIPOR1: 67,518,418–67,546,788, forward strandRIPOR1CTCF: 67,561,831–67,639,189, forward strandCTCFDiagram of CBFB: 6 exons on the forward strand of chromosome 16Exon 1: 67,029,149–67,029,485, 337 basesExon 2: 67,029,727–67,029,813, 87 basesExon 3: 67,036,639–67,036,755, 117 basesExon 4: 67,066,682–67,066,798, 117 basesExon 5: 67,082,213–67,082,308, 96 basesExon 6: 67,098,710–67,101,058, 2,349 bases1565′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 3.1 kb of the gene's 71.9 kb; 564 of those bases code for the protein.

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.
  • 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.). CBFB gene: core-binding factor subunit beta. Retrieved 16 October 2026, from https://dantelabs.com/genes/cbfb

Vancouver

Dante Labs. CBFB gene: core-binding factor subunit beta [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cbfb

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