PKDCC: Protein Kinase Domain Containing, Cytoplasmic
A pseudokinase involved in embryonic development and ciliogenesis
Gene Information Card
| Symbol | PKDCC |
|---|---|
| Full Name | Protein Kinase Domain Containing, Cytoplasmic |
| Gene Type | Protein coding (pseudokinase) |
| Chromosomal Location | 2p21 |
| NCBI Gene ID | 91461 ncbi.nlm.nih.gov/gene/91461 |
| Ensembl ID | ENSG00000162878 |
| UniProt ID | Q9H5R3 |
| OMIM ID | 618151 |
| HGNC ID | 25123 |
| Aliases | SgK073, Vlk, FLJ23356 |
Description
PKDCC (Protein Kinase Domain Containing, Cytoplasmic) encodes a pseudokinase that lacks catalytic activity due to critical substitutions in the ATP-binding and catalytic motifs. It is essential for ciliogenesis, left-right patterning, and skeletal development. Mutations in PKDCC cause autosomal recessive short-rib thoracic dysplasia with or without polydactyly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Short-rib thoracic dysplasia 12 with or without polydactyly | Loss-of-function mutations impair ciliary function and hedgehog signaling | OMIM #618151; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Testis | 6.5 | Low |
| Brain | 3.2 | Low |
| Heart | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | Highest in kidney-derived line |
| HeLa | 9.8 | Moderate |
| A549 | 7.2 | Lung carcinoma line |
| HepG2 | 4.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function |
| c.1372G>A (p.Gly458Arg) | Missense | Rare | Likely loss of function |
| c.1669C>T (p.Arg557Cys) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause premature truncation, leading to loss of protein function and ciliary defects.
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)
Pathways
• Hedgehog signaling pathway
• Ciliogenesis
Protein Summary
PKDCC is a 557-amino acid pseudokinase localized to the cytoplasm and ciliary base. It interacts with intraflagellar transport proteins and is required for primary cilium formation. Despite lacking catalytic activity, it acts as a scaffold to regulate hedgehog signaling during embryonic development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKDCC Knockout HEK293 Cell Line | EDJ-KQ10740 | Human | 91461 | Details Get a Quote |
| PKDCC Knockout A-549 Cell Line | EDJ-KQ37027 | Human | 91461 | Details Get a Quote |
| PKDCC Knockout HeLa Cell Line | EDJ-KQ38330 | Human | 91461 | Details Get a Quote |
| PKDCC Knockout HCT 116 Cell Line | EDJ-KQ74718 | Human | 91461 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
