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Gene

CDKN1B

cyclin dependent kinase inhibitor 1B

Summary

Cytogenetic location
12p13.1
Coordinates
Chromosome 12: 12,717,368–12,722,369 (GRCh38)
Exons
3 exons across 5 kb
Protein
198 amino acids
Inheritance
Autosomal dominant
Also known as
KIP1, P27KIP1
MANE Select transcript
ENST00000228872.9NM_004064.5
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

  • Malignant Endocrine Neoplasm

    • Multiple Endocrine NeoplasiaAutosomal dominant

      Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.

      • ClinGen rates the link definitive
      • 3 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 CDKN1B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 12, with a bracket where CDKN1B sits. CDKN1B and 15 genes near it on chromosome 12, from 12,219,869 to 13,219,868.Chromosome 1212p13.1p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3312.4 Mb12.6 Mb12.8 Mb13 Mb13.2 MbLRP6: 12,116,025–12,267,193, reverse strandLRP6MANSC1: 12,320,182–12,350,483, reverse strandMANSC1BORCS5: 12,357,057–12,482,332, forward strandBORCS5DUSP16: 12,473,282–12,563,147, reverse strandDUSP16CREBL2: 12,611,812–12,645,375, forward strandCREBL2GPR19: 12,660,047–12,715,990, reverse strandGPR19CDKN1B: 12,717,368–12,722,369, forward strandCDKN1BAPOLD1: 12,725,917–12,829,975, forward strandAPOLD1DDX47: 12,813,316–12,829,982, forward strandDDX47GPRC5A: 12,890,782–12,917,937, forward strandGPRC5AGPRC5D: 12,940,575–12,952,216, reverse strandGPRC5DHEBP1: 12,974,867–13,000,310, reverse strandHEBP1FAM234B: 13,044,185–13,142,521, forward strandFAM234BGSG1: 13,083,532–13,103,683, reverse strandGSG1: 13,088,784–13,103,484, reverse strandEMP1: 13,196,529–13,219,941, forward strandEMP1Diagram of CDKN1B: 3 exons on the forward strand of chromosome 12Exon 1: 95 known disease-causing sitesExon 2: 6 known disease-causing sitesExon 1: 12,717,368–12,718,314, 947 basesExon 2: 12,718,825–12,718,954, 130 basesExon 3: 12,721,036–12,722,369, 1,334 bases1235′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 2.4 kb of the gene's 5 kb; 597 of those bases code for the protein.

How a genome test reads CDKN1B

104

positions in CDKN1B 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 5 kb of CDKN1B, introns included, not only the 2.4 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.). CDKN1B gene: cyclin dependent kinase inhibitor 1B. Retrieved 16 October 2026, from https://dantelabs.com/genes/cdkn1b

Vancouver

Dante Labs. CDKN1B gene: cyclin dependent kinase inhibitor 1B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cdkn1b

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