Identity
HGNC
LOCATION
5p13.3
LOCUSID
ALIAS
AIPC,PAPIN,PDZK3,PIN1
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: 23037
MIM: 610697
HGNC: 18486
Ensembl: ENSG00000133401
Variants:
dbSNP: 23037
ClinVar: 23037
TCGA: ENSG00000133401
COSMIC: PDZD2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000133401 | ENST00000438447 | O15018 |
| ENSG00000133401 | ENST00000438447 | A0A024RE15 |
| ENSG00000133401 | ENST00000513910 | D6RF66 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 30896877 | 2019 | miR-363 acts as a tumor suppressor in osteosarcoma cells by inhibiting PDZD2. | 9 |
| 30896877 | 2019 | miR-363 acts as a tumor suppressor in osteosarcoma cells by inhibiting PDZD2. | 9 |
| 26918600 | 2017 | Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population. | 6 |
| 26918600 | 2017 | Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population. | 6 |
| 24827138 | 2014 | Structural genomic variation as risk factor for idiopathic recurrent miscarriage. | 18 |
| 24827138 | 2014 | Structural genomic variation as risk factor for idiopathic recurrent miscarriage. | 18 |
| 21451436 | 2012 | Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia. | 0 |
| 21451436 | 2012 | Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia. | 0 |
| 21061259 | 2011 | Genome-wide association study of genetic predictors of anti-tumor necrosis factor treatment efficacy in rheumatoid arthritis identifies associations with polymorphisms at seven loci. | 58 |
| 21061259 | 2011 | Genome-wide association study of genetic predictors of anti-tumor necrosis factor treatment efficacy in rheumatoid arthritis identifies associations with polymorphisms at seven loci. | 58 |
| 20237496 | 2010 | New genetic associations detected in a host response study to hepatitis B vaccine. | 37 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20237496 | 2010 | New genetic associations detected in a host response study to hepatitis B vaccine. | 37 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 19046020 | 2009 | PDZ-domain containing-2 (PDZD2) drives the maturity of human fetal pancreatic progenitor-derived islet-like cell clusters with functional responsiveness against membrane depolarization. | 5 |
Citation
Dessen P
PDZD2 (PDZ domain containing 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-10-01
Online version: http://atlasgeneticsoncology.org/gene/41688/pdzd2
