Identity
HGNC
LOCATION
5q31.3
LOCUSID
ALIAS
DMJDS1,VE-cadherin-2,VECAD2
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: 51294
MIM: 605622
HGNC: 8657
Ensembl: ENSG00000113555
Variants:
dbSNP: 51294
ClinVar: 51294
TCGA: ENSG00000113555
COSMIC: PCDH12
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000113555 | ENST00000231484 | Q9NPG4 |
| ENSG00000113555 | ENST00000510041 | E5RJD4 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37536661 | 2023 | Asynchronous presentation and evolution of homozygous PCDH12 variant-induced exudative retinopathy in two siblings. | 0 |
| 37536661 | 2023 | Asynchronous presentation and evolution of homozygous PCDH12 variant-induced exudative retinopathy in two siblings. | 0 |
| 34773825 | 2022 | The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature. | 4 |
| 34929393 | 2022 | PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy. | 2 |
| 34773825 | 2022 | The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature. | 4 |
| 34929393 | 2022 | PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy. | 2 |
| 33527719 | 2021 | Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants. | 3 |
| 33527719 | 2021 | Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants. | 3 |
| 30459466 | 2019 | Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. | 4 |
| 30459466 | 2019 | Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. | 4 |
| 29904113 | 2018 | A commentary on a case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy. | 0 |
| 30178464 | 2018 | Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. | 12 |
| 29904113 | 2018 | A commentary on a case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy. | 0 |
| 30178464 | 2018 | Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. | 12 |
| 27164683 | 2016 | Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. | 13 |
Citation
Dessen P
PCDH12 (protocadherin 12)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71696/pcdh12-(protocadherin-12)
