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: 84816
MIM: 610502
HGNC: 18647
Ensembl: ENSG00000130347
Variants:
dbSNP: 84816
ClinVar: 84816
TCGA: ENSG00000130347
COSMIC: RTN4IP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000130347 | ENST00000369063 | Q8WWV3 |
| ENSG00000130347 | ENST00000539449 | G3V1R2 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36231115 | 2022 | A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families. | 0 |
| 36231115 | 2022 | A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families. | 0 |
| 33037779 | 2021 | Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. | 4 |
| 33136666 | 2021 | Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype. | 6 |
| 33315831 | 2021 | A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY. | 3 |
| 33037779 | 2021 | Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. | 4 |
| 33136666 | 2021 | Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype. | 6 |
| 33315831 | 2021 | A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY. | 3 |
| 29181510 | 2018 | Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. | 17 |
| 29181510 | 2018 | Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults. | 17 |
| 26593267 | 2015 | Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. | 28 |
| 26593267 | 2015 | Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. | 28 |
| 23393170 | 2013 | RTN4IP1 is down-regulated in thyroid cancer and has tumor-suppressive function. | 8 |
| 23393170 | 2013 | RTN4IP1 is down-regulated in thyroid cancer and has tumor-suppressive function. | 8 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
RTN4IP1 (reticulon 4 interacting protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2013-05-01
Online version: http://atlasgeneticsoncology.org/gene/53304/rtn4ip1
