RPGRIP1L (RPGRIP1 like)

2014-11-01  

Identity

HGNC
LOCATION
16q12.2
LOCUSID
ALIAS
COACH3,CORS3,FTM,JBTS7,MKS5,NPHP8,PPP1R134
FUSION GENES

Other Information

Locus ID:

NCBI: 23322
MIM: 610937
HGNC: 29168
Ensembl: ENSG00000103494

Variants:

dbSNP: 23322
ClinVar: 23322
TCGA: ENSG00000103494
COSMIC: RPGRIP1L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103494ENST00000262135Q68CZ1
ENSG00000103494ENST00000562230H3BPF5
ENSG00000103494ENST00000562588I3L2P2
ENSG00000103494ENST00000563746H3BV03
ENSG00000103494ENST00000564374H3BS47
ENSG00000103494ENST00000566096I3L1B5
ENSG00000103494ENST00000568653H3BPS4
ENSG00000103494ENST00000569716J3QLR9
ENSG00000103494ENST00000621565A0A087WX34
ENSG00000103494ENST00000647211Q68CZ1

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
175584092007The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.204
194304812009A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.144
175584072007Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.138
182561372008Regulation of Fto/Ftm gene expression in mice and humans.110
198442072010Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample.87
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.60
195742602010Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).47
218579842011Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.38
179601392007Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.37

Citation

Dessen P

RPGRIP1L (RPGRIP1 like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72784/rpgrip1l