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: 59336
MIM: 616741
HGNC: 13998
Ensembl: ENSG00000112238
Variants:
dbSNP: 59336
ClinVar: 59336
TCGA: ENSG00000112238
COSMIC: PRDM13
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000112238 | ENST00000369214 | A0A0A0MRL5 |
| ENSG00000112238 | ENST00000369215 | Q9H4Q3 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38601016 | 2024 | Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea. | 0 |
| 38601016 | 2024 | Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea. | 0 |
| 34125159 | 2021 | North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants. | 7 |
| 34526759 | 2021 | A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1). | 5 |
| 34730112 | 2021 | A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia. | 12 |
| 34125159 | 2021 | North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants. | 7 |
| 34526759 | 2021 | A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1). | 5 |
| 34730112 | 2021 | A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia. | 12 |
| 32476814 | 2020 | A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant. | 8 |
| 32476814 | 2020 | A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant. | 8 |
| 30710461 | 2019 | Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. | 11 |
| 30710461 | 2019 | Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. | 11 |
| 29767251 | 2018 | Overexpression of PRDM13 inhibits glioma cells via Rho and GTP enzyme activation protein. | 4 |
| 29767251 | 2018 | Overexpression of PRDM13 inhibits glioma cells via Rho and GTP enzyme activation protein. | 4 |
| 27777503 | 2016 | North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene. | 15 |
Citation
Dessen P
PRDM13 (PR/SET domain 13)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/57726/prdm13-(pr-set-domain-13)
