TRPV2

transient receptor potential cation channel subfamily V member 2, the group of Transient receptor potential cation channels|Ankyrin repeat domain containing

Basic information

Region (hg38): 17:16415570-16437003

Links

ENSG00000187688 ∙ NCBI:51393 ∙ OMIM:606676 ∙ HGNC:18082 ∙ Uniprot:Q9Y5S1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRPV2 gene.

• Inborn genetic diseases (25 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRPV2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			23	2		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	23	2	0

Variants in TRPV2

This is a list of pathogenic ClinVar variants found in the TRPV2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-16417810-C-T		not specified	Uncertain significance (Sep 01, 2021)
17-16417811-G-A		not specified	Uncertain significance (Jan 23, 2024)
17-16417816-T-C		not specified	Uncertain significance (Nov 22, 2021)
17-16417855-G-A		not specified	Uncertain significance (Dec 20, 2022)
17-16420120-C-T		not specified	Uncertain significance (Mar 07, 2023)
17-16420132-G-A		not specified	Uncertain significance (Aug 11, 2022)
17-16420162-T-G		not specified	Uncertain significance (Dec 05, 2022)
17-16420168-G-A		not specified	Uncertain significance (Feb 10, 2022)
17-16422688-G-C		not specified	Uncertain significance (Jan 04, 2024)
17-16422769-A-G		not specified	Uncertain significance (Aug 02, 2021)
17-16423549-G-A		not specified	Uncertain significance (Jun 16, 2023)
17-16423549-G-T		not specified	Uncertain significance (Nov 17, 2022)
17-16423592-A-G		not specified	Uncertain significance (Dec 21, 2022)
17-16423711-C-T		not specified	Uncertain significance (Aug 11, 2022)
17-16423732-C-A		not specified	Uncertain significance (Sep 09, 2021)
17-16423765-G-A		not specified	Uncertain significance (Jan 03, 2024)
17-16426220-G-A		not specified	Uncertain significance (Dec 06, 2022)
17-16427475-G-C		not specified	Uncertain significance (Aug 04, 2023)
17-16427477-T-C		not specified	Likely benign (Nov 29, 2021)
17-16427485-T-C		not specified	Uncertain significance (Jul 26, 2022)
17-16427514-C-G		not specified	Uncertain significance (Oct 13, 2021)
17-16427539-G-A		not specified	Uncertain significance (Oct 27, 2023)
17-16428313-G-A			Benign (May 16, 2018)
17-16428933-A-G		not specified	Uncertain significance (May 13, 2022)
17-16428935-A-G		not specified	Uncertain significance (Mar 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRPV2	protein_coding	protein_coding	ENST00000338560	14	21462

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.92e-13	0.962	125697	0	50	125747	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.71	359	462	0.776	0.0000278	4935
Missense in Polyphen		104	161.96	0.64213		1820
Synonymous	0.173	203	206	0.985	0.0000133	1569
Loss of Function	2.26	26	41.8	0.622	0.00000248	395

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000605	0.000604
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000285	0.000272
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000195	0.000193
Middle Eastern	0.000285	0.000272
South Asian	0.000131	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Calcium-permeable, non-selective cation channel with an outward rectification. Seems to be regulated, at least in part, by IGF-I, PDGF and neuropeptide head activator. May transduce physical stimuli in mast cells. Activated by temperatures higher than 52 degrees Celsius; is not activated by vanilloids and acidic pH. {ECO:0000269|PubMed:10201375}.
• Pathway: Inflammatory mediator regulation of TRP channels - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);Stimuli-sensing channels;Ion channel transport;Transport of small molecules;TRP channels (Consensus)

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.162
• rvis_EVS: -1.64
• rvis_percentile_EVS: 2.82

Haploinsufficiency Scores

• pHI: 0.104
• hipred: N
• hipred_score: 0.372
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.183

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Trpv2
• Phenotype: immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; growth/size/body region phenotype; cellular phenotype

Gene ontology

• Biological process: sensory perception;response to temperature stimulus;response to heat;positive regulation of axon extension;calcium ion transmembrane transport;positive regulation of calcium ion import;positive regulation of cold-induced thermogenesis
• Cellular component: plasma membrane;integral component of plasma membrane;cell surface;growth cone membrane;melanosome;axonal growth cone;cell body
• Molecular function: ion channel activity;cation channel activity;calcium channel activity;ion transmembrane transporter activity