PDC (Phosducin) Gene
A key regulator of G-protein signaling in the retina and pineal gland
Gene Information Card
| Symbol | PDC |
|---|---|
| Full Name | Phosducin |
| Gene Type | Protein coding |
| Chromosomal Location | 1q31.1 |
| NCBI Gene ID | 5132 ncbi.nlm.nih.gov/gene/5132 |
| Ensembl ID | ENSG00000115641 |
| UniProt ID | P20941 |
| OMIM ID | 171890 |
| HGNC ID | 8789 |
| Aliases | MEKA, PHD, PhLP |
Description
The PDC gene encodes phosducin, a 28 kDa phosphoprotein that regulates G-protein signaling by binding to the beta-gamma subunits of heterotrimeric G-proteins. It is highly expressed in the retina and pineal gland, where it modulates phototransduction and circadian rhythms. Phosducin is also implicated in transcriptional regulation and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Disruption of phosducin function impairs G-protein signaling in photoreceptors, leading to progressive retinal degeneration. | ClinVar, OMIM |
| Cone-rod dystrophy | Altered phosducin expression affects cone photoreceptor survival and function. | ClinVar, OMIM |
| Cancer (various) | Phosducin overexpression or mutation may influence G-protein signaling pathways involved in tumorigenesis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 78.5 | High |
| Pineal gland | 45.2 | High |
| Brain (cerebellum) | 12.3 | Medium |
| Testis | 8.9 | Medium |
| Heart | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.4 | Retinal cell line |
| Y79 (retinoblastoma) | 22.7 | Retinal cancer cell line |
| HEK293 | 3.2 | Low expression |
| HeLa | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.01% | Loss of start codon, reduced protein expression |
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Altered G-protein binding |
| c.256G>A (p.Glu86Lys) | Missense | <0.01% | Impaired phosducin function |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce phosducin expression or disrupt G-protein binding lead to impaired phototransduction and retinal degeneration.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may aberrantly modulate G-protein signaling.
Dominant Negative (DN)
Some missense variants may interfere with wild-type phosducin function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • signal transduction (GO:0007165) |
| • visual perception (GO:0007601) | • G-protein beta/gamma-subunit complex binding (GO:0031683) |
| • response to drug (GO:0042493) |
Pathways
• Phototransduction cascade (KEGG: hsa04744)
• G-protein signaling (Reactome: R-HSA-418594)
Protein Summary
Phosducin is a 246-amino-acid protein that binds to the beta-gamma subunits of G-proteins, modulating their availability and activity. It is predominantly expressed in the retina and pineal gland, where it plays a critical role in phototransduction and circadian rhythm regulation. Post-translational modifications, including phosphorylation by PKA and PKC, regulate its function. Mutations in PDC are associated with retinal dystrophies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Pdcd1 Overexpression 4T1 Stable Cell Line | EDJ-GQ136 | Mouse | 18566 | Details Get a Quote |
| PDCD6IP Knockout HEK293 Cell Line | EDJ-KQ2146 | Human | 10015 | Details Get a Quote |
| PDCD10 Knockout HEK293 Cell Line | EDJ-KQ2446 | Human | 11235 | Details Get a Quote |
| PDCD4 Knockout HEK293 Cell Line | EDJ-KQ3907 | Human | 27250 | Details Get a Quote |
| PDC Knockout HEK293 Cell Line | EDJ-KQ5424 | Human | 5132 | Details Get a Quote |
| PDCD6 Knockout HEK293 Cell Line | EDJ-KQ6863 | Human | 10016 | Details Get a Quote |
| PDCL2 Knockout HEK293 Cell Line | EDJ-KQ8538 | Human | 132954 | Details Get a Quote |
| PDCD1 Knockout HEK293 Cell Line | EDJ-KQ14713 | Human | 5133 | Details Get a Quote |
| PDCD1LG2 Knockout HEK293 Cell Line | EDJ-KQ14714 | Human | 80380 | Details Get a Quote |
| Pdcd1 Overexpression RAW 264.7 Stable Cell Line | EDC90722 | Mouse | 18566 | Details Get a Quote |
| PDCD10 Knockout A-549 Cell Line | EDJ-KQ22965 | Human | 11235 | Details Get a Quote |
| PDCD10 Knockout HeLa Cell Line | EDJ-KQ22967 | Human | 11235 | Details Get a Quote |
| PDCD4 Knockout A-549 Cell Line | EDJ-KQ26125 | Human | 27250 | Details Get a Quote |
| PDCD4 Knockout HeLa Cell Line | EDJ-KQ26127 | Human | 27250 | Details Get a Quote |
| PDCD10 Knockout HCT 116 Cell Line | EDJ-KQ21642 | Human | 11235 | Details Get a Quote |
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