TRPV6 - transient receptor potential cation channel subfamily V member 6 Gene

Also Known as CAT1; CATL; ZFAB; ECAC2; ABP/ZF; HRPTTN; LP6728; HSA277909

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55503

About TRPV6

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:142,871,208-142,885,745 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 241 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in prostate (RPKM 26.0), salivary gland (RPKM 21.3) and 9 other tissues.

Summary

This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]

TRPV6 Products (1)

mRNA	Protein	Name
NM_018646.6	NP_061116.5	transient receptor potential cation channel subfamily V member 6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables calcium channel activity	IDA IDA: Inferred from direct assay	11097838	GOA
enables calmodulin binding	IDA IDA: Inferred from direct assay	11278579	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15894168	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in calcium ion import across plasma membrane	IDA IDA: Inferred from direct assay	11097838	GOA
involved in calcium ion import across plasma membrane	IMP IMP: Inferred from mutant phenotype	29861107	GOA
involved in calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	11097838	GOA
involved in calcium ion transport	IDA IDA: Inferred from direct assay	23612980	GOA
involved in calcium ion transport	IMP IMP: Inferred from mutant phenotype	29861107	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	11097838	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRPV6 Protein Structure

Ank_2

Ion_trans

0
200
400
600
725 a.a.

Protein Preferred Names	Protein Names
transient receptor potential cation channel subfamily V member 6	Alu-binding protein with zinc finger domain

TRPV6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	TRPV6	Q9H1D0	PTPN1	Homo sapiens	P18031	BiFC	17197020
Intra	TRPV6	Q9H1D0	PTPN1	Homo sapiens	P18031	BiFC	15894168
Intra	TRPV6	Q9H1D0	PTPN1	Homo sapiens	P18031	Anti Tag CoIP	17197020

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hyperparathyroidism, Transient Neonatal	HRPTTN
Hyperparathyroidism, Neonatal Severe	NSHPT Neonatal Severe Primary Hyperparathyroidism Nsph Nhpt Hyperparathyroidism, Neonatal Hyperparathyroidism, Neonatal Severe Primary Neonatal Severe Hyperparathyroidism Hyperparathyroidism, Severe, Neonatal Neonatal Hyperparathyroidism
Hyperparathyroidism	Hyperparathyroidism And Other Disorders Of Parathyroid Gland Parathyroid Hyperfunction Hpth - [Hyperparathyroidism] Parathyroid Gland Hyperfunction Parathyroid Glandular Hyperfunction
Bone Mineral Density Quantitative Trait Locus 15	Osteoporosis BMND15 Osteoporosis, Susceptibility To Metaphyseal Fracture Metaphyseal Fracture, Susceptibility To Compression Fracture Compression Fracture, Susceptibility To Metaphyseal Fractures Fractures, Compression
Spondylometaphyseal Dysplasia, Kozlowski Type	Spondylometaphyseal Dysplasia Kozlowski Type Jequier Kozlowski Skeletal Dysplasia Smd Kozlowski Type SMDK Dysmorphism Arthrogryposis Skeletal Maturation Advanced Jequier-Kozlowski Syndrome Skeletal Dysplasia Jequier-Kozlowski Type Smd, Kozlowski Type
Spondyloepiphyseal Dysplasia, Maroteaux Type	Spondyloepiphyseal Dysplasia Maroteaux Type Pseudo-Morquio Syndrome Type 2 Sed, Maroteaux Type Brachyolmia Type 2 Pseudo-Morquio Syndrome, Type 2 Spondyloepiphyseal Dysplasia Of Maroteaux Brachyolmia Maroteaux Type SEDM Sed Maroteaux Type Dysplasia, Spondyloepiphyseal, Maroteaux Type
Pseudohypoaldosteronism
Metatropic Dysplasia	Metatropic Dwarfism MTD Metatropic Dysplasia Type 1 Metatropic Dysplasia, Nonlethal Dominant
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Scapuloperoneal Spinal Muscular Atrophy	SPSMA Amyotrophy, Neurogenic Scapuloperoneal, New England Type Neurogenic Scapuloperoneal Amyotrophy, New England Type Scapuloperoneal Neuronopathy Spinal Muscular Atrophy, Scapuloperoneal Amyotrophy Neurogenic Scapuloperoneal New England Type Muscular Atrophy, Spinal Scapuloperoneal Form Of Spinal Muscular Atrophy
Hypervitaminosis D	Vitamin D Hyperalimentation
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Olmsted Syndrome Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques Palmoplantar And Periorificial Keratoderma Olms
Mucolipidosis Iv	Mucolipidosis Type Iv ML4 Sialolipidosis Mucolipidosis Type 4 Ganglioside Sialidase Deficiency Mliv Ml Iv Berman Syndrome Ganglioside Neuraminidase Deficiency Ml 4 Mucolipidosis 4 Type Iv Mucolipidosis Gangliosidoses
Vitamin D-Dependent Rickets, Type 2a	Hvdrr Generalized Resistance To 1,25-Dihydroxyvitamin D Hypocalcemic Vitamin D-Resistant Rickets VDDR2A Rickets, Hereditary Vitamin D-Resistant Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol Pddr Iia Rickets-Alopecia Syndrome Rickets, Vitamin D-Resistant, Type Iia Vitamin D-Dependent Rickets Type 2a Vitamin D-Dependent Rickets, Type 2 Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia Generalized 1,25-Dihydroxyvitamin D Pseudovitamin D-Deficiency, Type Iia Hereditary Vitamin D-Resistant Rickets Vddr Ii Vdrr Ii Vitamin D-Dependent Rickets Type Ii Vitamin D-Resistant Rickets Type Ii Rickets Vitamin D-Dependent 2a Pseudovitamin D-Deficiency Type Iia Rickets Hereditary Vitamin D-Resistant Type Iia Rickets Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia Vitamin D-Dependent Rickets, Type Ii Familial Hypophosphatemic Rickets Hypophosphatemic Rickets, X-Linked Dominant

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Phase
HY-P1651	SOR-C13	Antagonist	99.12%	Phase 1
HY-P1651A	SOR-C13 TFA	Antagonist	99.32%	Phase 1
HY-P1651B	SOR-C13 acetate	Antagonist	99.11%	Phase 1

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-157574	TRPV6-IN-1	Inhibitor	99.1%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TRPV6	VGNC	VGNC:47886
Rattus norvegicus	TRPV6	RGD	RGD:69335
Felis catus	TRPV6	VGNC	VGNC:66600
Mus musculus	TRPV6	MGD	MGI:1927259
Bos taurus	TRPV6	VGNC	VGNC:36402
Macaca mulatta	TRPV6	VGNC	VGNC:78942
Others	TRPV6	NCBI