TRPV6 (Q14891586)

IMP

4 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

Case Report of Transient Neonatal Hyperparathyroidism: Medically Free Mother

Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism

chronic pancreatitis

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

3 references

Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis

TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese population

colorectal cancer

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Colorectal cancer risk and patients' survival: influence of polymorphisms in genes somatically mutated in colorectal tumors

male infertility

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Male fertility depends on Ca²+ absorption by TRPV6 in epididymal epithelia

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation.

osteochondrodysplasia

IMP

3 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

transient neonatal hyperparathyroidism

genetic association

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

https://platform.opentargets.org/evidence/ENSG00000165125/MONDO_0032591

Open Targets Platform

retrieved

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

chromosome

human chromosome 7

genomic assembly

1 reference

1 reference

142568956

1 reference

142871208

1 reference

142583507

1 reference

142885745

1 reference

7q34

1 reference

15 May 2022

decreased expression in

esophageal cancer

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

TRPV6 plays a new role in predicting survival of patients with esophageal squamous cell carcinoma

gene deletion association with

male infertility

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Excision of Trpv6 gene leads to severe defects in epididymal Ca2+ absorption and male fertility much like single D541A pore mutation

altered regulation leads to

Dent disease

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease

oculocerebrorenal syndrome

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Increased biological response to 1,25(OH)(2)D(3) in genetic hypercalciuric stone-forming rats

ISO

4 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5

Aromatase deficiency causes altered expression of molecules critical for calcium reabsorption in the kidneys of female mice *.

The L530R variation associated with recurrent kidney stones impairs the structure and function of TRPV5.

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

A family of calcium-permeable channels in the kidney: distinct roles in renal calcium handling

Pendred syndrome

3 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model

Lack of pendrin HCO3- transport elevates vestibular endolymphatic [Ca2+] by inhibition of acid-sensitive TRPV5 and TRPV6 channels

pre-eclampsia

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Alteration of calcium homeostasis in primary preeclamptic syncytiotrophoblasts: effect on calcium exchange in placenta

HomoloGene ID

56812

1 reference

15 May 2022

PBB GE TRPV6 206827 s at fs.png
732 × 530; 12 KB

0 references

increased expression in

breast cancer

8 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

The role of TRPV6 in breast carcinogenesis

Calcium channel TRPV6 as a potential therapeutic target in estrogen receptor-negative breast cancer.

High expression of transient receptor potential channels in human breast cancer epithelial cells and tissues: correlation with pathological parameters.

[TRP calcium channel and breast cancer: expression, role and correlation with clinical parameters].

An automated epifluorescence microscopy imaging assay for the identification of phospho-AKT level modulators in breast cancer cells

Expression and functionality of TRPV1 in breast cancer cells

Chemical inhibitors of the calcium entry channel TRPV6.

breast cancer

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

2 references

Regulation of calcium influx and signaling pathway in cancer cells via TRPV6-Numb1 interaction.

colorectal cancer

6 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Suppression of aberrant transient receptor potential cation channel, subfamily V, member 6 expression in hyperproliferative colonic crypts by dietary calcium

Human PXR-mediated induction of intestinal CYP3A4 attenuates 1α,25-dihydroxyvitamin D₃ function in human colon adenocarcinoma LS180 cells

Role of proinflammatory cytokines on expression of vitamin D metabolism and target genes in colon cancer cells.

Calcium deficiency-induced and TRP channel-regulated IGF1R-PI3K-Akt signaling regulates abnormal epithelial cell proliferation

Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis

endometrial cancer

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

TRPV6 as A Target for Cancer Therapy

stomach cancer

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

TRPV6 mediates capsaicin-induced apoptosis in gastric cancer cells--Mechanisms behind a possible new "hot" cancer treatment

Gitelman syndrome

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Generation and analysis of the thiazide-sensitive Na+-Cl− cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome

Gitelman syndrome

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

A family of calcium-permeable channels in the kidney: distinct roles in renal calcium handling

Gordon syndrome

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Mechanisms for hypercalciuria in pseudohypoaldosteronism type II-causing WNK4 knock-in mice

hypocalcemic rickets

3 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Mechanisms and regulation of epithelial Ca2+ absorption in health and disease

Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets

lung cancer

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Capsaicin induces apoptosis in human small cell lung cancer via the TRPV6 receptor and the calpain pathway

lung cancer

3 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Capsaicin induces apoptosis in human small cell lung cancer via the TRPV6 receptor and the calpain pathway

Expression and prognostic roles of TRPV5 and TRPV6 in non-small cell lung cancer after curative resection

osteoporosis

5 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Kefir improves bone mass and microarchitecture in an ovariectomized rat model of postmenopausal osteoporosis

Quercetin Enhances VDR Activity, Leading to Stimulation of Its Target Gene Expression in Caco-2 Cells

Advanced oxidation protein products decrease the expression of calcium transport channels in small intestinal epithelium via the p44/42 MAPK signaling pathway

Human PXR-mediated induction of intestinal CYP3A4 attenuates 1α,25-dihydroxyvitamin D₃ function in human colon adenocarcinoma LS180 cells

osteoporosis

8 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

A family of calcium-permeable channels in the kidney: distinct roles in renal calcium handling

(Patho)physiological implications of the novel epithelial Ca2+ channels TRPV5 and TRPV6.

Mechanisms and regulation of epithelial Ca2+ absorption in health and disease

Vitamin D: molecular mechanism of action

Molecular mechanisms of vitamin D action

Calcium metabolism and correcting calcium deficiencies

Molecular aspects of intestinal calcium absorption

ovarian cancer

4 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Calcium-selective ion channel, CaT1, is apically localized in gastrointestinal tract epithelia and is aberrantly expressed in human malignancies

In vivo detection of human TRPV6-rich tumors with anti-cancer peptides derived from soricidin

Inhibition of Transient Receptor Potential Vanilloid 6 channel, elevated in human ovarian cancers, reduces tumour growth in a xenograft model

pancreatic cancer

5 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

TRPV6 modulates proliferation of human pancreatic neuroendocrine BON-1 tumour cells.

TRPV6 modulates proliferation of human pancreatic neuroendocrine BON-1 tumour cells.

Expression and prognostic significance of TRPV6 in the development and progression of pancreatic cancer.

In vivo detection of human TRPV6-rich tumors with anti-cancer peptides derived from soricidin

pancreatic cancer

randomized controlled trial

2 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

First-in-human phase I study of SOR-C13, a TRPV6 calcium channel inhibitor, in patients with advanced solid tumors

prostate cancer

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

8 references

Optimization of TRPV6 Calcium Channel Inhibitors Using a 3D Ligand-Based Virtual Screening Method

TRPV6 determines the effect of vitamin D3 on prostate cancer cell growth

Chemical inhibitors of the calcium entry channel TRPV6.

Intermediate-conductance Ca2+-activated K+ channels (IKCa1) regulate human prostate cancer cell proliferation through a close control of calcium entry

TRPV6 channel controls prostate cancer cell proliferation via Ca(2+)/NFAT-dependent pathways.

Calcium store contents control the expression of TRPC1, TRPC3 and TRPV6 proteins in LNCaP prostate cancer cell line

Store-operated Ca2+ Current and TRPV6 Channels in Lymph Node Prostate Cancer Cells

thyroid cancer

4 references

Calcium selective channel TRPV6: Structure, function, and implications in health and disease

Calcium-selective ion channel, CaT1, is apically localized in gastrointestinal tract epithelia and is aberrantly expressed in human malignancies

In vivo detection of human TRPV6-rich tumors with anti-cancer peptides derived from soricidin

Capsaicin inhibits the metastasis of human papillary thyroid carcinoma BCPAP cells through the modulation of the TRPV1 channel

2 references

56812

https://omabrowser.org/oma/vps/Q9H1D0/

2 references

56812

https://omabrowser.org/oma/vps/Q9H1D0/

1 reference

56812

1

1 reference

7 June 2024

duodenum

2

1 reference

7 June 2024

placenta

3

1 reference

7 June 2024

prostate

4

1 reference

7 June 2024

islet of Langerhans

5

1 reference

7 June 2024

gallbladder

6

1 reference

7 June 2024

skin of abdomen

7

1 reference

7 June 2024

primary visual cortex

8

1 reference

7 June 2024

salivary gland

9

1 reference

7 June 2024

skin of leg

10

1 reference

7 June 2024

http://identifiers.org/ncbigene/55503

exact match

1 reference

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers.org

reference URL

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

1 reference

Ensembl transcript ID

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

0 references

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

UMLS CUI

C1422342

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata