Trpv6 transient receptor potential cation channel, subfamily V, member 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Trpv6provided by MGI
Official Full Name: transient receptor potential cation channel, subfamily V, member 6provided by MGI
Primary source: MGI:MGI:1927259
See related: Ensembl:ENSMUSG00000029868 AllianceGenome:MGI:1927259
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CAT; Cac; CaT1; Ecac2; Otrpc3
Summary: Enables calcium channel activity and identical protein binding activity. Involved in calcium ion import across plasma membrane and response to calcium ion. Acts upstream of or within calcium ion transport and parathyroid hormone secretion. Part of calcium channel complex. Is expressed in alimentary system; central nervous system; metanephros; and sensory organ. Human ortholog(s) of this gene implicated in hyperparathyroidism. Orthologous to human TRPV6 (transient receptor potential cation channel subfamily V member 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in genital fat pad adult (RPKM 14.3), placenta adult (RPKM 5.0) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 B2.1; 6 19.79 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (41597553..41613339, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (41620619..41636405, complement)

Chromosome 6 - NC_000072.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TRPV6 deficiency attenuates stress and corticosterone-mediated exacerbation of alcohol-induced gut barrier dysfunction and systemic inflammation.
Title: TRPV6 deficiency attenuates stress and corticosterone-mediated exacerbation of alcohol-induced gut barrier dysfunction and systemic inflammation.
TRPV6 channel mediates alcohol-induced gut barrier dysfunction and systemic response.
Title: TRPV6 channel mediates alcohol-induced gut barrier dysfunction and systemic response.
Patterns of Coevolutionary Adaptations across Time and Space in Mouse Gammaretroviruses and Three Restrictive Host Factors.
Title: Patterns of Coevolutionary Adaptations across Time and Space in Mouse Gammaretroviruses and Three Restrictive Host Factors.
A TRPV6 expression atlas for the mouse.
Title: A TRPV6 expression atlas for the mouse.
CAT1 silencing inhibits TGF-beta1-induced mouse hepatic stellate cell activation in vitro and hepatic fibrosis in vivo.
Title: CAT1 silencing inhibits TGF-β1-induced mouse hepatic stellate cell activation in vitro and hepatic fibrosis in vivo.
The calcium channel TRPV6 is a novel regulator of RANKL-induced osteoclastic differentiation and bone absorption activity through the IGF-PI3K-AKT pathway.
Title: The calcium channel TRPV6 is a novel regulator of RANKL-induced osteoclastic differentiation and bone absorption activity through the IGF-PI3K-AKT pathway.
Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis.
Title: Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis.
Activation of the calcium sensing receptor attenuates TRPV6-dependent intestinal calcium absorption.
Title: Activation of the calcium sensing receptor attenuates TRPV6-dependent intestinal calcium absorption.
Net TRPV6-mediated Ca(2+) flux across the duodenum was absent in pre-weaned (P14) mice but present after weaning. In contrast, authors found significant transcellular Ca(2+) absorption in the jejunum at 2 weeks but not 2 months of age.
Title: TRPV6 and Ca(v)1.3 Mediate Distal Small Intestine Calcium Absorption Before Weaning.
results show that TRPV6 is necessary for the Ca(2+) uptake in trophoblasts and that TRPV6 deficiency in the placenta leads to reduced embryo growth, minor bone calcification, and impaired bone development.
Title: Maternal Transient Receptor Potential Vanilloid 6 (Trpv6) Is Involved In Offspring Bone Development.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Endonuclease-mediated (1)

General gene information

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Markers

L77867 (e-PCR)
- UniSTS:159494

mHAa31g5.seq (e-PCR)
- UniSTS:125978

BB111090 (e-PCR)
- UniSTS:207941

Ephb6 (e-PCR), detects polymorphism
- UniSTS:266995

Gene Ontology Provided by MGI

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	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium channel activity	ISO Inferred from Sequence Orthology more info
enables calmodulin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion import	ISO Inferred from Sequence Orthology 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in calcium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within parathyroid hormone secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of calcium channel complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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

Names: calcium transport protein 1; epithelial calcium channel 2; osmosensitive transient receptor potential channel 3

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.

mRNA and Protein(s)

NM_022413.4 → NP_071858.3 transient receptor potential cation channel subfamily V member 6

See identical proteins and their annotated locations for NP_071858.3

Status: VALIDATED

Source sequence(s)

AK077234, AK168760, CF583712

Consensus CDS

CCDS20052.2

UniProtKB/Swiss-Prot

Q91WD2

UniProtKB/TrEMBL

A0A0J9YMK6

Related

ENSMUSP00000031902.7, ENSMUST00000031902.7

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 → 748

trp; transient-receptor-potential calcium channel protein

sd00045
Location:156 → 187

ANK; ANK repeat [structural motif]