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

Homo sapiens

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

Gene ID: 55503 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P1651A	SOR-C13 TFA	Antagonist	99.18%	Phase 1
HY-P1651	SOR-C13	Antagonist	98.56%	Phase 1

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P1651B	SOR-C13 acetate	Antagonist	98.56%	Unkown
HY-P10740	CBP-1018		/	Unkown
HY-P10762	CBP-1008		/	Unkown
HY-P4856	pTH-Related Protein (1-40) (human, mouse, rat)	Activator	/	Unkown
HY-RS15126	TRPV6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-157574	TRPV6-IN-1	Inhibitor	/	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

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