PDLIM3: PDZ and LIM Domain Protein 3
A cytoskeletal scaffold protein involved in muscle development and sarcomere organization
Gene Information Card
| Symbol | PDLIM3 |
|---|---|
| Full Name | PDZ and LIM domain 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q35.1 |
| NCBI Gene ID | 27295 ncbi.nlm.nih.gov/gene/27295 |
| Ensembl ID | ENSG00000138698 |
| UniProt ID | Q53GG5 |
| OMIM ID | 605889 |
| HGNC ID | 20767 |
| Aliases | ALP, PDZ and LIM domain protein 3, actinin-associated LIM protein |
Description
PDLIM3 (PDZ and LIM domain 3) encodes a protein that belongs to the ALP (actinin-associated LIM protein) family. The protein contains an N-terminal PDZ domain and a C-terminal LIM domain, which mediate interactions with alpha-actinin and other cytoskeletal components. PDLIM3 is predominantly expressed in cardiac and skeletal muscle, where it localizes to the Z-disc of sarcomeres and plays a critical role in maintaining sarcomere integrity and muscle function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy (DCM) | Mutations in PDLIM3 disrupt sarcomere assembly and Z-disc stability, leading to impaired contractility | ClinVar, OMIM |
| Limb-girdle muscular dystrophy (LGMD) | Loss-of-function variants may contribute to muscle fiber degeneration | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal muscle | 22.3 | High |
| Smooth muscle | 6.1 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 30.0 | High expression |
| Skeletal muscle myoblasts | 18.7 | Moderate expression |
| HEK 293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.361C>T (p.Arg121Trp) | Missense | Rare | Alters PDZ domain, reduced binding to alpha-actinin |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Impairs LIM domain function, associated with DCM |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that reduce protein stability or disrupt domain interactions, leading to impaired sarcomere organization
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Some missense variants may interfere with wild-type protein function at the Z-disc
View complete mutation data：
Gene Ontology (GO)
| • PDZ domain binding | • LIM domain binding |
| • actin binding | • structural constituent of muscle |
| • Z-disc | • sarcomere |
| • cytoskeleton |
Pathways
• Sarcomere organization
• Muscle contraction
• Actin cytoskeleton regulation
Protein Summary
PDLIM3 is a 364-amino acid protein with a molecular weight of approximately 40 kDa. It contains an N-terminal PDZ domain that binds to the C-terminus of alpha-actinin-2, anchoring it to the Z-disc, and a C-terminal LIM domain that mediates protein-protein interactions. The protein is essential for maintaining sarcomere structure and function in cardiac and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDLIM3 Knockout HEK293 Cell Line | EDJ-KQ8750 | Human | 27295 | Details Get a Quote |
| PDLIM3 Knockout HCT 116 Cell Line | EDJ-KQ34997 | Human | 27295 | Details Get a Quote |
| PDLIM3 Knockout HeLa Cell Line | EDJ-KQ33741 | Human | 27295 | Details Get a Quote |
| PDLIM3 Knockout A-549 Cell Line | EDJ-KQ64535 | Human | 27295 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
