PKD1L2: Polycystin 1 Like 2 (Gene/Pseudogene)
A comprehensive genomic and functional overview of PKD1L2, a gene with homology to polycystin-1, implicated in ciliary function and potential roles in genetic disorders.
Gene Information Card
| Symbol | PKD1L2 |
|---|---|
| Full Name | Polycystin 1 Like 2 (Gene/Pseudogene) |
| Gene Type | Protein coding (with pseudogene characteristics) |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 114798 ncbi.nlm.nih.gov/gene/114798 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9NZM6 |
| OMIM ID | 610214 |
| HGNC ID | 21711 |
| Aliases | PKD1L2, PKD1-like 2, FLJ20273 |
Description
PKD1L2 (Polycystin 1 Like 2) is a gene located on chromosome 16q23.1 that encodes a protein with homology to polycystin-1, a key component of the polycystin complex involved in ciliary signaling. The gene is considered a member of the polycystin family, though some evidence suggests it may function as a pseudogene in certain contexts. It is expressed in various tissues and is implicated in ciliary function and potentially in autosomal dominant polycystic kidney disease (ADPKD)-related pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Potential modifier gene; homology to PKD1 suggests involvement in ciliary signaling pathways | Limited; inferred from homology and expression studies |
| Primary Ciliary Dyskinesia | Possible role in ciliary function due to protein structure | Hypothetical; no direct evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 8.5 | Low expression |
| HepG2 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Predicted loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to result in loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • ciliary basal body (GO:0036064) | • cilium assembly (GO:0060271) |
Pathways
• Polycystin signaling pathway
• Ciliary function and assembly
Protein Summary
The PKD1L2 protein (UniProt Q9NZM6) is a 2,290-amino acid transmembrane protein with homology to polycystin-1. It contains multiple domains including a G-protein-coupled receptor proteolytic site (GPS) and a polycystin-1/lipoxygenase/alpha-toxin (PLAT) domain. The protein is predicted to localize to the plasma membrane and ciliary basal body, suggesting a role in ciliary signaling and mechanosensation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKD1L2 Knockout HEK293 Cell Line | EDJ-KQ7456 | Human | 114780 | Details Get a Quote |
| PKD1L2 Knockout A-549 Cell Line | EDJ-KQ32669 | Human | 114780 | Details Get a Quote |
| PKD1L2 Knockout HCT 116 Cell Line | EDJ-KQ32670 | Human | 114780 | Details Get a Quote |
| PKD1L2 Knockout HeLa Cell Line | EDJ-KQ32671 | Human | 114780 | Details Get a Quote |
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