PDLIM4
PDZ and LIM Domain Protein 4
Gene Information Card
| Symbol | PDLIM4 |
|---|---|
| Full Name | PDZ and LIM Domain 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 8572 ncbi.nlm.nih.gov/gene/8572 |
| Ensembl ID | ENSG00000113558 |
| UniProt ID | P50479 |
| OMIM ID | 603422 |
| HGNC ID | 20768 |
| Aliases | RIL |
Description
PDLIM4 (PDZ and LIM Domain 4), also known as RIL, encodes a protein containing a PDZ domain and a LIM domain. It is involved in actin cytoskeleton organization, cell adhesion, and signal transduction. PDLIM4 is frequently downregulated in various cancers, suggesting a tumor suppressor role. The gene is located on chromosome 5q31.1, a region often deleted in myeloid malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | Deletion or epigenetic silencing of PDLIM4 at 5q31.1 contributes to leukemogenesis | PMID: 15692071 |
| Breast Cancer | Promoter hypermethylation and reduced expression of PDLIM4 are associated with tumor progression | PMID: 19029981 |
| Prostate Cancer | Loss of PDLIM4 expression correlates with aggressive disease and poor prognosis | PMID: 17563758 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Skeletal Muscle | 8.7 | Low |
| Brain | 5.2 | Low |
| Lung | 4.1 | Low |
| Liver | 2.8 | Not detected |
| Kidney | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| MCF7 | 3.4 | Breast cancer cells |
| K562 | 1.2 | Chronic myeloid leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown |
| c.205C>T | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PDLIM4 are predicted to cause loss of function, consistent with its proposed tumor suppressor role.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PDLIM4.
Dominant Negative (DN)
No dominant-negative mutations have been described for PDLIM4.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • cell adhesion |
| • signal transduction | • protein binding |
| • zinc ion binding |
Pathways
• Actin cytoskeleton regulation
• Focal adhesion
Protein Summary
The PDLIM4 protein (UniProt P50479) contains a PDZ domain at the N-terminus and a LIM domain at the C-terminus. It localizes to the cytoplasm and cell membrane, interacting with actin filaments and signaling molecules. PDLIM4 is involved in maintaining cytoskeletal integrity and cell-cell adhesion. Reduced expression is observed in several cancers, implicating it in tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDLIM4 Knockout HEK293 Cell Line | EDJ-KQ6291 | Human | 8572 | Details Get a Quote |
| PDLIM4 Knockout HeLa Cell Line | EDJ-KQ54944 | Human | 8572 | Details Get a Quote |
| PDLIM4 Knockout A-549 Cell Line | EDJ-KQ63429 | Human | 8572 | Details Get a Quote |
| PDLIM4 Knockout HCT 116 Cell Line | EDJ-KQ71895 | Human | 8572 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
