PDLIM1

Chr 10

PDZ and LIM domain 1

Also known as: CLIM1, CLP-36, CLP36, HEL-S-112, hCLIM1

This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]

ResearchGenerating clinical summary…
0
Active trials
27
Pubs (1 yr)
P/LP submissions
P/LP missense
0.87
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?
0.87LOEUF
pLI 0.001
Z-score 1.92
OE 0.46 (0.260.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.76Z-score
OE missense 0.84 (0.740.96)
161 obs / 190.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.46 (0.260.87)
00.351.4
Missense OE?0.84 (0.740.96)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 7 / 15.1Missense obs/exp: 161 / 190.6Syn Z: -0.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PDLIM1 · 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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