Identity
HGNC
LOCATION
1p21.1
LOCUSID
ALIAS
IGHD5,RBM40,RNP,SNRNP65
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: 55599
MIM: 618016
HGNC: 18666
Ensembl: ENSG00000185946
Variants:
dbSNP: 55599
ClinVar: 55599
TCGA: ENSG00000185946
COSMIC: RNPC3
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37463572 | 2024 | A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy. | 1 |
| 37463572 | 2024 | A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy. | 1 |
| 34906446 | 2022 | Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency. | 1 |
| 34906446 | 2022 | Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency. | 1 |
| 33650182 | 2021 | Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants. | 3 |
| 33650182 | 2021 | Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants. | 3 |
| 32462814 | 2020 | Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency. | 10 |
| 32462814 | 2020 | Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency. | 10 |
| 29255062 | 2018 | Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA. | 9 |
| 29255062 | 2018 | Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA. | 9 |
| 27510544 | 2016 | U6atac snRNA stem-loop interacts with U12 p65 RNA binding protein and is functionally interchangeable with the U12 apical stem-loop III. | 5 |
| 27510544 | 2016 | U6atac snRNA stem-loop interacts with U12 p65 RNA binding protein and is functionally interchangeable with the U12 apical stem-loop III. | 5 |
| 24480542 | 2014 | Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. | 48 |
| 24480542 | 2014 | Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. | 48 |
| 16096647 | 2005 | The U11/U12 snRNP 65K protein acts as a molecular bridge, binding the U12 snRNA and U11-59K protein. | 34 |
Citation
Dessen P
RNPC3 (RNA binding region (RNP1, RRM) containing 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72720/gene-fusions/meetings/
