RPGRIP1L RPGRIP1 like
Gene ID: 23322, updated on 18-Sep-2024Gene type: protein coding
Also known as: FTM; MKS5; CORS3; JBTS7; NPHP8; COACH3; PPP1R134
- See all available tests in GTR for this gene
- Go to complete Gene record for RPGRIP1L
- Go to Variation Viewer for RPGRIP1L variants
Summary
The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| COACH syndrome 3 | See labs |
| Familial aplasia of the vermis MedGen: C0431399GeneReviews: Joubert Syndrome | See labs |
| Joubert syndrome 7 | See labs |
| Meckel syndrome, type 5 | See labs |
| Nephronophthisis 8 MedGen: CN119610GeneReviews: Not available | See labs |
| Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. GeneReviews: Not available | |
| Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo. GeneReviews: Not available |
Genomic context
- Location:
- 16q12.2
- Sequence:
- Chromosome: 16; NC_000016.10 (53598153..53703859, complement)
- Total number of exons:
- 36
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RPGRIP1L variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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