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): 17:16415571-16437003

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.

not_specified (84 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. These statistics are base on transcript: NM_000016113.5. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			81 clinvar	3 clinvar		84
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	81	3	0

Loading clinvar variants...

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