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: 57479
MIM: 616633
HGNC: 29217
Ensembl: ENSG00000126464
Variants:
dbSNP: 57479
ClinVar: 57479
TCGA: ENSG00000126464
COSMIC: PRR12
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000126464 | ENST00000418929 | Q9ULL5 |
| ENSG00000126464 | ENST00000615927 | A0A3Q5ADB5 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33314030 | 2021 | Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. | 6 |
| 33314030 | 2021 | Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. | 6 |
| 29556724 | 2018 | De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. | 7 |
| 29556724 | 2018 | De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. | 7 |
| 26163108 | 2015 | A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations. | 12 |
| 26163108 | 2015 | A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations. | 12 |
Citation
Dessen P
PRR12 (proline rich 12)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54556/prr12-(proline-rich-12)
