PDLIM7
PDZ and LIM domain protein 7: a scaffold protein implicated in cardiac development and cancer
Gene Information Card
| Symbol | PDLIM7 |
|---|---|
| Full Name | PDZ and LIM domain 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 9260 ncbi.nlm.nih.gov/gene/9260 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | Q9NR12 |
| OMIM ID | 605905 |
| HGNC ID | 16885 |
| Aliases | LMP1, LMP-1, ENIGMA, ENH |
Description
PDLIM7 (PDZ and LIM domain 7) encodes a protein containing one PDZ domain and three LIM domains. It functions as a scaffold protein, interacting with cytoskeletal components and signaling molecules. PDLIM7 is involved in cardiac development, particularly in the formation of the intercalated disc, and has been implicated in cancer progression, including osteosarcoma and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteosarcoma | Overexpression of PDLIM7 promotes tumor growth and metastasis through interaction with β-catenin and activation of Wnt signaling. | PMID: 23431173 |
| Breast cancer | PDLIM7 expression is associated with poor prognosis; it enhances cell migration and invasion via LIM domain-mediated interactions. | PMID: 25636800 |
| Cardiac hypertrophy | PDLIM7 interacts with protein kinase C and modulates hypertrophic signaling in cardiomyocytes. | PMID: 14561769 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Medium |
| Brain | 4.1 | Low |
| Lung | 3.2 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 6.8 | Moderate expression |
| U2OS (osteosarcoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 4.5 | Low expression |
| H9c2 (cardiomyocyte) | 10.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.101G>A (p.Arg34His) | Missense | <0.01% | Likely benign; no disease association confirmed |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in PDLIM7.
Gain of Function (GOF)
Overexpression in osteosarcoma and breast cancer suggests a potential gain-of-function role in tumor progression.
Dominant Negative (DN)
Not described for PDLIM7.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • metal ion binding |
| • actin binding | • PDZ domain binding |
| • LIM domain binding | • cytoskeleton organization |
| • cell migration | • cardiac muscle cell development |
Pathways
• Wnt signaling pathway
• Actin cytoskeleton regulation
• Cardiac muscle contraction
Protein Summary
The PDLIM7 protein (also known as Enigma) is a 596-amino-acid scaffold that contains an N-terminal PDZ domain and three C-terminal LIM domains. It localizes to the Z-disc and intercalated disc in cardiac muscle, where it binds to α-actinin and protein kinase C. In cancer cells, PDLIM7 interacts with β-catenin to enhance transcriptional activity and promote invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDLIM7 Knockout HEK293 Cell Line | EDJ-KQ6531 | Human | 9260 | Details Get a Quote |
| PDLIM7 Knockout A-549 Cell Line | EDJ-KQ30701 | Human | 9260 | Details Get a Quote |
| PDLIM7 Knockout HCT 116 Cell Line | EDJ-KQ30702 | Human | 9260 | Details Get a Quote |
| PDLIM7 Knockout HeLa Cell Line | EDJ-KQ30703 | Human | 9260 | Details Get a Quote |
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