PDLIM5
PDZ and LIM Domain 5
Gene Information Card
| Symbol | PDLIM5 |
|---|---|
| Full Name | PDZ and LIM domain 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q22.3 |
| NCBI Gene ID | 10611 ncbi.nlm.nih.gov/gene/10611 |
| Ensembl ID | ENSG00000138613 |
| UniProt ID | Q96HC4 |
| OMIM ID | 605904 |
| HGNC ID | 17468 |
| Aliases | ENH, L9, LIM, PDLIM5 |
Description
PDLIM5 (PDZ and LIM domain 5) encodes a protein containing a PDZ domain and three LIM domains. It acts as an adapter protein involved in cytoskeletal organization, signal transduction, and cardiac muscle development. The gene is implicated in cardiac hypertrophy, bipolar disorder, and schizophrenia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiac hypertrophy | PDLIM5 interacts with protein kinase C and modulates hypertrophic signaling | PMID: 14561758 |
| Bipolar disorder | Genetic association studies link PDLIM5 variants to increased risk | PMID: 15066891 |
| Schizophrenia | PDLIM5 expression changes in prefrontal cortex; associated with synaptic function | PMID: 16936727 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 23.4 | High |
| Brain | 12.1 | Medium |
| Skeletal muscle | 18.7 | High |
| Lung | 5.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.6 | Cervical cancer cell line |
| SH-SY5Y | 22.3 | Neuroblastoma cell line |
| H9c2 | 28.1 | Rat cardiomyoblast |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | 0.01% (gnomAD) | p.Pro412Ser; unknown functional impact |
| c.789_790del | frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are likely loss-of-function.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • zinc ion binding (GO:0008270) |
| • cytoplasm (GO:0005737) | • cytoskeleton (GO:0005856) |
| • Z disc (GO:0030018) | • sarcomere organization (GO:0045214) |
Pathways
• Cardiac muscle contraction (Reactome: R-HSA-5576891)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
PDLIM5 is a 596-amino acid protein with a PDZ domain at the N-terminus and three LIM domains at the C-terminus. It localizes to the Z-disc of cardiac muscle and interacts with alpha-actinin, protein kinase C, and other cytoskeletal proteins. It plays a role in maintaining sarcomere integrity and modulating intracellular signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDLIM5 Knockout HEK293 Cell Line | EDJ-KQ2340 | Human | 10611 | Details Get a Quote |
| PDLIM5 Knockout A-549 Cell Line | EDJ-KQ21431 | Human | 10611 | Details Get a Quote |
| PDLIM5 Knockout HCT 116 Cell Line | EDJ-KQ22756 | Human | 10611 | Details Get a Quote |
| PDLIM5 Knockout HeLa Cell Line | EDJ-KQ22757 | Human | 10611 | Details Get a Quote |
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