TRPV6 transient receptor potential cation channel subfamily V member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRPV6provided by HGNC
Official Full Name: transient receptor potential cation channel subfamily V member 6provided by HGNC
Primary source: HGNC:HGNC:14006
See related: Ensembl:ENSG00000165125 MIM:606680; AllianceGenome:HGNC:14006
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAT1; CATL; ZFAB; ECAC2; ABP/ZF; HRPTTN; LP6728; HSA277909
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]
Expression: Biased expression in prostate (RPKM 26.0), salivary gland (RPKM 21.3) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q34

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (142871208..142885745, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (144227023..144241552, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (142568961..142583490, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An overlooked African gene variant linked to the calcium selective channel TRPV6: A mini-review.
Title: An overlooked African gene variant linked to the calcium selective channel TRPV6: A mini-review.
The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
Title: The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
Biochemistry and pathophysiology of the Transient Potential Receptor Vanilloid 6 (TRPV6) calcium channel.
Title: Biochemistry and pathophysiology of the Transient Potential Receptor Vanilloid 6 (TRPV6) calcium channel.
Vital but vulnerable: Human TRPV6 is a trade-off of powerful Ca(2+) uptake and susceptibility to epithelial barrier dysfunction.
Title: Vital but vulnerable: Human TRPV6 is a trade-off of powerful Ca(2+) uptake and susceptibility to epithelial barrier dysfunction.
TRPV6 Regulation by Cis-22a and Cholesterol.
Title: TRPV6 Regulation by Cis-22a and Cholesterol.
TRPV6 channel mediates alcohol-induced gut barrier dysfunction and systemic response.
Title: TRPV6 channel mediates alcohol-induced gut barrier dysfunction and systemic response.
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
Title: Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
Down-regulation of TRPV6 Is Associated With Adverse Prognosis in Hepatocellular Carcinoma Treated With Curative Resection.
Title: Down-regulation of TRPV6 Is Associated With Adverse Prognosis in Hepatocellular Carcinoma Treated With Curative Resection.
Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients.
Title: Loss of function TRPV6 variants are associated with chronic pancreatitis in nonalcoholic early-onset Polish and German patients.
Calcium selective channel TRPV6: Structure, function, and implications in health and disease.
Title: Calcium selective channel TRPV6: Structure, function, and implications in health and disease.

Submit: New GeneRIF Correction See all GeneRIFs (113)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hyperparathyroidism, transient neonatal MedGen: C1300287 OMIM: 618188 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of transient receptor potential cation channel, subfamily V, member 6 (TRPV6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71266 (e-PCR)
- UniSTS:7964

IB201 (e-PCR)
- UniSTS:27963

GDB:1318282 (e-PCR)
- UniSTS:67911

SHGC-52550 (e-PCR)
- UniSTS:38280

GDB:4585747 (e-PCR)
- UniSTS:17301

G31055 (e-PCR)
- UniSTS:11158

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel activity	TAS Traceable Author Statement more info
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transmembrane transport	TAS Traceable Author Statement more info
involved_in calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion transport	NAS Non-traceable Author Statement more info	PubMed
involved_in parathyroid hormone secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of calcium ion-dependent exocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in response to calcium ion	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of calcium channel complex	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: transient receptor potential cation channel subfamily V member 6

Names: Alu-binding protein with zinc finger domain; calcium transport protein 1; calcium transporter-like protein; epithelial apical membrane calcium transporter/channel CaT1; epithelial calcium channel 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_050669.2 RefSeqGene

Range

5000..19537

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018646.6 → NP_061116.5 transient receptor potential cation channel subfamily V member 6

See identical proteins and their annotated locations for NP_061116.5

Status: REVIEWED

Source sequence(s)

AC245427

Consensus CDS

CCDS5874.2

UniProtKB/Swiss-Prot

A4D2I8, Q8TDL3, Q8WXR8, Q96LC5, Q9H1D0, Q9H1D1, Q9H296

UniProtKB/TrEMBL

A0A1X7SBT1

Related

ENSP00000352358.5, ENST00000359396.9

Conserved Domains (3) summary

cd00204
Location:119 → 242

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

TIGR00870
Location:52 → 698

trp; transient-receptor-potential calcium channel protein

sd00045
Location:156 → 187

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

142871208..142885745 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187562.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

894250..908785 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

144227023..144241552 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_014274.3: Suppressed sequence

Description

NM_014274.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.