Entity Details

Primary name TRPV6
Entity type gene
Source Source Link

Details

PrimaryID55503
RefseqGeneNG_050669
SymbolTRPV6
Nametransient receptor potential cation channel subfamily V member 6
Chromosome7
Location7q34
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-11-24
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsTRPV6_HUMAN

GO terms

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GOName
GO:0005216 ion channel activity
GO:0005262 calcium channel activity
GO:0005516 calmodulin binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006816 calcium ion transport
GO:0017158 regulation of calcium ion-dependent exocytosis
GO:0034704 calcium channel complex
GO:0035898 parathyroid hormone secretion
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0051592 response to calcium ion
GO:0055074 calcium ion homeostasis
GO:0070588 calcium ion transmembrane transport
GO:0098703 calcium ion import across plasma membrane

Diseases

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Disease IDSourceNameDescription
618188 OMIMHyperparathyroidism, transient neonatal (HRPTTN)An autosomal recessive disease characterized by impaired transplacental maternal-fetal transport of calcium, high serum PTH levels and signs of metabolic bone disease in the neonatal period. Skeletal anomalies include generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. Affected individuals experience postnatal respiratory and feeding difficulties. The condition improves within a short time after birth once calcium is provided orally. The disease is caused by variants affecting the gene represented in this entry.