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Gene

CBL

Cbl proto-oncogene

Summary

Cytogenetic location
11q23.3
Coordinates
Chromosome 11: 119,206,339–119,308,149 (GRCh38)
Exons
16 exons across 101.8 kb
Protein
906 amino acids
Inheritance
Autosomal dominant
Also known as
RNF55, c-Cbl
Previous symbols
CBL2
MANE Select transcript
ENST00000264033.6NM_005188.4
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

  • Noonan Syndrome

    • CBL-Related DisorderAutosomal dominant

      A Noonan-like condition caused by changes in CBL, which also carries a risk of juvenile myelomonocytic leukaemia in early childhood.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports blood count monitoring in early childhood.

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 CBL is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where CBL sits. CBL and 27 genes near it on chromosome 11, from 118,757,244 to 119,757,243.Chromosome 1111q23.3p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q25118.8 Mb119 Mb119.2 Mb119.4 Mb119.6 MbDDX6: 118,747,763–118,791,226, reverse strandDDX6CXCR5: 118,883,868–118,897,787, forward strandCXCR5BCL9L: 118,893,875–118,925,926, reverse strandBCL9LUPK2: 118,925,164–118,958,559, forward strandUPK2FOXR1: 118,971,623–118,981,287, forward strandCENATAC: 118,998,051–119,015,811, forward strandRPS25: 119,014,665–119,018,724, reverse strandRPS25TRAPPC4: 119,018,733–119,025,454, forward strandTRAPPC4SLC37A4: 119,023,751–119,030,906, reverse strandSLC37A4HYOU1: 119,044,185–119,057,252, reverse strandHYOU1VPS11: 119,067,789–119,082,753, forward strandHMBS: 119,084,861–119,093,920, forward strandH2AX: 119,093,874–119,095,465, reverse strandH2AXDPAGT1: 119,095,979–119,108,331, reverse strandDPAGT1C2CD2L: 119,102,198–119,118,544, forward strandC2CD2LHINFP: 119,121,509–119,136,059, forward strandHINFPABCG4: 119,149,029–119,162,653, forward strandABCG4NLRX1: 119,166,481–119,184,017, forward strandNLRX1NHERF4: 119,185,457–119,190,227, forward strandNHERF4DRC12: 119,190,055–119,206,266, reverse strandDRC12CBL: 119,206,339–119,308,149, forward strandCBLMCAM: 119,307,972–119,321,521, reverse strandMCAMRNF26: 119,334,527–119,337,309, forward strandRNF26C1QTNF5: 119,338,942–119,340,940, reverse strandC1QTNF5MFRP: 119,338,942–119,346,705, reverse strandMFRPUSP2: 119,355,215–119,381,720, reverse strandUSP2THY1: 119,415,476–119,424,985, reverse strandTHY1NECTIN1: 119,623,408–119,729,488, reverse strandNECTIN1Diagram of CBL: 16 exons on the forward strand of chromosome 11Exon 7: 2 known disease-causing sitesExon 8: 16 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 13: 1 known disease-causing siteExon 1: 119,206,339–119,206,612, 274 basesExon 2: 119,232,448–119,232,695, 248 basesExon 3: 119,271,735–119,271,881, 147 basesExon 4: 119,273,868–119,274,024, 157 basesExon 5: 119,274,832–119,274,953, 122 basesExon 6: 119,275,997–119,276,134, 138 basesExon 7: 119,277,757–119,277,844, 88 basesExon 8: 119,278,166–119,278,297, 132 basesExon 9: 119,278,510–119,278,713, 204 basesExon 10: 119,284,969–119,285,100, 132 basesExon 11: 119,285,189–119,285,566, 378 basesExon 12: 119,287,852–119,287,946, 95 basesExon 13: 119,296,918–119,297,034, 117 basesExon 14: 119,297,384–119,297,481, 98 basesExon 15: 119,298,358–119,298,540, 183 basesExon 16: 119,299,495–119,308,149, 8,655 bases12468101214165′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 11.2 kb of the gene's 101.8 kb; 2,721 of those bases code for the protein.

How a genome test reads CBL

32

positions in CBL 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 101.8 kb of CBL, introns included, not only the 11.2 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.). CBL gene: Cbl proto-oncogene. Retrieved 16 October 2026, from https://dantelabs.com/genes/cbl

Vancouver

Dante Labs. CBL gene: Cbl proto-oncogene [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cbl

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