CDHR2

Chr 5

cadherin related family member 2

Also known as: PCDH24, PCLCK, PCLKC

This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]

ResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
P/LP submissions
P/LP missense
0.85
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?
0.85LOEUF
pLI 0.000
Z-score 2.53
OE 0.65 (0.510.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.37Z-score
OE missense 0.96 (0.911.02)
767 obs / 796.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.510.85)
00.351.4
Missense OE?0.96 (0.911.02)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 41 / 62.6Missense obs/exp: 767 / 796.5Syn Z: -0.91

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CDHR2 · 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.

Search ClinicalTrials.gov →