CDKN2B

Chr 9

cyclin dependent kinase inhibitor 2B

Also known as: CDK4I, INK4B, MTS2, P15, TP15, p15INK4b

This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
1
Active trials
187
Pubs (1 yr)
P/LP submissions
P/LP missense
1.83
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.83LOEUF
pLI 0.007
Z-score 0.11
OE 0.93 (0.411.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.70Z-score
OE missense 1.20 (1.031.41)
112 obs / 93.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.93 (0.411.83)
00.351.4
Missense OE?1.20 (1.031.41)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 3 / 3.2Missense obs/exp: 112 / 93.1Syn Z: -0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CDKN2B · protein map & ClinVar variants

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