Identity
HGNC
LOCATION
2q35
LOCUSID
ALIAS
BRP17,DYT8,FKSG19,FPD1,KIPP1184,MR-1,MR-1S,MR1,PDC,PKND1,PNKD1,R1,TAHCCP2
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: 25953
MIM: 609023
HGNC: 9153
Ensembl: ENSG00000127838
Variants:
dbSNP: 25953
ClinVar: 25953
TCGA: ENSG00000127838
COSMIC: PNKD
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38342606 | 2024 | Myofibrillogenesis Regulator-1 Regulates the Ubiquitin Lysosomal Pathway of Notch3 Intracellular Domain Through E3 Ubiquitin-Protein Ligase Itchy Homolog in the Metastasis of Non-Small Cell Lung Cancer. | 1 |
| 38342606 | 2024 | Myofibrillogenesis Regulator-1 Regulates the Ubiquitin Lysosomal Pathway of Notch3 Intracellular Domain Through E3 Ubiquitin-Protein Ligase Itchy Homolog in the Metastasis of Non-Small Cell Lung Cancer. | 1 |
| 28894297 | 2018 | The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family. | 19 |
| 28894297 | 2018 | The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family. | 19 |
| 28199844 | 2017 | MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase. | 49 |
| 28199844 | 2017 | MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase. | 49 |
| 27005424 | 2016 | Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. | 26 |
| 27005424 | 2016 | Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. | 26 |
| 25107857 | 2015 | A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. | 3 |
| 26598494 | 2015 | The clinical and genetic heterogeneity of paroxysmal dyskinesias. | 57 |
| 25107857 | 2015 | A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. | 3 |
| 26598494 | 2015 | The clinical and genetic heterogeneity of paroxysmal dyskinesias. | 57 |
| 25066297 | 2014 | Phosphorylation of myofibrillogenesis regulator-1 activates the MAPK signaling pathway and induces proliferation and migration in human breast cancer MCF7 cells. | 10 |
| 25066297 | 2014 | Phosphorylation of myofibrillogenesis regulator-1 activates the MAPK signaling pathway and induces proliferation and migration in human breast cancer MCF7 cells. | 10 |
| 23696030 | 2013 | Clinicopathological and prognostic significance of myofibrillogenesis regulator-1 protein expression in pancreatic ductal adenocarcinoma. | 4 |
Citation
Dessen P
PNKD (PNKD metallo-beta-lactamase domain containing)
Atlas Genet Cytogenet Oncol Haematol. 2013-03-01
Online version: http://atlasgeneticsoncology.org/gene/53200/pnkd
