Identity
HGNC
LOCATION
16q12.2
LOCUSID
ALIAS
COACH3,CORS3,FTM,JBTS7,MKS5,NPHP8,PPP1R134
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: 23322
MIM: 610937
HGNC: 29168
Ensembl: ENSG00000103494
Variants:
dbSNP: 23322
ClinVar: 23322
TCGA: ENSG00000103494
COSMIC: RPGRIP1L
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35233738 | 2022 | Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family. | 4 |
| 35233738 | 2022 | Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family. | 4 |
| 33625872 | 2021 | Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone. | 15 |
| 33808286 | 2021 | The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L. | 8 |
| 33625872 | 2021 | Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone. | 15 |
| 33808286 | 2021 | The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L. | 8 |
| 30597647 | 2019 | A novel association of rs13334070 in the RPGRIP1L gene with adiposity factors discovered by joint linkage and linkage disequilibrium analysis in Iranian pedigrees: Tehran Cardiometabolic Genetic Study (TCGS). | 5 |
| 30689641 | 2019 | RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis. | 5 |
| 30597647 | 2019 | A novel association of rs13334070 in the RPGRIP1L gene with adiposity factors discovered by joint linkage and linkage disequilibrium analysis in Iranian pedigrees: Tehran Cardiometabolic Genetic Study (TCGS). | 5 |
| 30689641 | 2019 | RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis. | 5 |
| 29650680 | 2018 | Cell type-specific regulation of ciliary transition zone assembly in vertebrates. | 36 |
| 29657248 | 2018 | Association of fat mass and obesity-associated and retinitis pigmentosa guanosine triphosphatase (GTPase) regulator-interacting protein-1 like polymorphisms with body mass index in Chinese women. | 1 |
| 30539925 | 2018 | Rs3213758 in the RPGRIP1L Gene Associated with Susceptibility to Segmental Vitiligo in a Chinese Han Population. | 0 |
| 29650680 | 2018 | Cell type-specific regulation of ciliary transition zone assembly in vertebrates. | 36 |
| 29657248 | 2018 | Association of fat mass and obesity-associated and retinitis pigmentosa guanosine triphosphatase (GTPase) regulator-interacting protein-1 like polymorphisms with body mass index in Chinese women. | 1 |
Citation
Dessen P
RPGRIP1L (RPGRIP1 like)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72784/rpgrip1l-(rpgrip1-like)
