CDKN1B

Chr 12

cyclin dependent kinase inhibitor 1B

Also known as: CDKN4, KIP1, MEN1B, MEN4, P27KIP1

This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMultiple endocrine neoplasia 4

Clinical highlights

Gene-disease validity (ClinGen)
multiple endocrine neoplasia type 4 · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
116
Pubs (1 yr)
P/LP submissions
P/LP missense
0.65
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.65LOEUF
pLI 0.624
Z-score 2.17
OE 0.14 (0.050.65)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
-1.85Z-score
OE missense 1.50 (1.321.70)
164 obs / 109.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.14 (0.050.65)
00.351.4
Missense OE?1.50 (1.321.70)
00.61.4
Synonymous OE?1.99
01.21.6
LoF obs/exp: 1 / 7.4Missense obs/exp: 164 / 109.6Syn Z: -5.17

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

CDKN1B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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