inversin
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalNeonatal cholestasis
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomalRenal ciliopathies
BIALLELIC, autosomal or pseudoautosomalTubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalUnexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
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nephronophthisis 2
nephronophthisis
Infantile nephronophthisis
Senior-Loken syndrome
hereditary disease
cystic kidney disease
urinary system disorder
intestinal infectious disease
Abnormality of the urinary system
insomnia
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Inversin
Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity)
Curated MONDO disease pages that list INVS among their top associated genes.
INVS · Q9Y283
Mean pLDDT
70.2/ 100
Confident
1,065 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
