RPGRIP1 like
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalDuctal plate malformation
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalNeurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalOcular coloboma
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal+16 more panels — install the extension to see the full list inline on any page.
Joubert syndrome
Meckel syndrome
Joubert syndrome with hepatic defect
Meckel syndrome, type 5
Joubert syndrome 7
Joubert syndrome with renal defect
Joubert syndrome and related disorders
hereditary disease
ciliopathy
neurodegenerative disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein fantom
Negatively regulates signaling through the G protein-coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity)
Curated MONDO disease pages that list RPGRIP1L among their top associated genes.
RPGRIP1L · Q68CZ1
Mean pLDDT
70.1/ 100
Confident
1,315 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
