transient receptor potential cation channel subfamily V member 6
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalOsteogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalThoracic dystrophies
BIALLELIC, autosomal or pseudoautosomalPancreatitis
BIALLELIC, autosomal or pseudoautosomalhyperparathyroidism, transient neonatal
neonatal severe primary hyperparathyroidism
acute pancreatitis
pancreas disorder
hyperparathyroidism
Slender long bone
preeclampsia
hereditary disease
chronic pancreatitis
myotonic syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Transient receptor potential cation channel subfamily V member 6
Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine (PubMed:11097838, PubMed:11248124, PubMed:11278579, PubMed:15184369, PubMed:23612980, PubMed:29258289). Important for normal Ca(2+) ion homeostasis in the body, including bone and skin (By similarity). The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification (PubMed:15184369). Inactivation includes both a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism; the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating
TRPV6 · Q9H1D0
Mean pLDDT
80.6/ 100
Confident
765 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
