Identity
HGNC
LOCATION
2p21
LOCUSID
ALIAS
RLSDF,SGK493,Vlk
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 91461
MIM: 614150
HGNC: 25123
Ensembl: ENSG00000162878
Variants:
dbSNP: 91461
ClinVar: 91461
TCGA: ENSG00000162878
COSMIC: PKDCC
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000162878 | ENST00000294964 | Q504Y2 |
| ENSG00000162878 | ENST00000401498 | F8WB71 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38483448 | 2024 | A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis. | 1 |
| 38683846 | 2024 | Identification of bone mineral density associated genes with shared genetic architectures across multiple tissues: Functional insights for EPDR1, PKDCC, and SPTBN1. | 0 |
| 38483448 | 2024 | A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PKDCC during chondrogenesis. | 1 |
| 38683846 | 2024 | Identification of bone mineral density associated genes with shared genetic architectures across multiple tissues: Functional insights for EPDR1, PKDCC, and SPTBN1. | 0 |
| 36896672 | 2023 | The prevalence and phenotypic range associated with biallelic PKDCC variants. | 3 |
| 37592254 | 2023 | Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China. | 1 |
| 36896672 | 2023 | The prevalence and phenotypic range associated with biallelic PKDCC variants. | 3 |
| 37592254 | 2023 | Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China. | 1 |
| 34329392 | 2022 | The secreted tyrosine kinase VLK is essential for normal platelet activation and thrombus formation. | 4 |
| 34329392 | 2022 | The secreted tyrosine kinase VLK is essential for normal platelet activation and thrombus formation. | 4 |
| 31845979 | 2020 | Secreted tyrosine kinase Vlk negatively regulates Hedgehog signaling by inducing lysosomal degradation of Smoothened. | 7 |
| 31845979 | 2020 | Secreted tyrosine kinase Vlk negatively regulates Hedgehog signaling by inducing lysosomal degradation of Smoothened. | 7 |
| 30478137 | 2019 | Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features. | 11 |
| 30478137 | 2019 | Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features. | 11 |
| 27591737 | 2017 | Vertebrate Lonesome Kinase Regulated Extracellular Matrix Protein Phosphorylation, Cell Shape, and Adhesion in Trabecular Meshwork Cells. | 14 |
Citation
Dessen P
PKDCC (protein kinase domain containing, cytoplasmic)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71942/pkdcc-(protein-kinase-domain-containing-cytoplasmic)
