TRPC7

transient receptor potential cation channel subfamily C member 7, the group of Ankyrin repeat domain containing|Transient receptor potential cation channels

Basic information

Region (hg38): 5:136212745-136365545

Links

ENSG00000069018

∙ NCBI:57113 ∙ ∙ HGNC:20754 ∙ Uniprot:Q9HCX4 ∙ 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 TRPC7 gene.

not_specified (85 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRPC7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020389.3. 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			2 clinvar	1 clinvar		3
missense			87 clinvar			87
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	89	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRPC7	protein_coding	protein_coding	ENST00000513104	12	183732

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000195	1.00	125321	0	25	125346	0.0000997

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.31	384	534	0.719	0.0000340	5671
Missense in Polyphen		99	176.4	0.56121		1842
Synonymous	0.326	224	230	0.973	0.0000169	1654
Loss of Function	3.85	14	40.4	0.346	0.00000216	453

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000936	0.0000911
Ashkenazi Jewish	0.000302	0.000298
East Asian	0.000335	0.000331
Finnish	0.00	0.00
European (Non-Finnish)	0.000107	0.000106
Middle Eastern	0.000335	0.000331
South Asian	0.0000338	0.0000327
Other	0.000166	0.000164

dbNSFP

Source: dbNSFP

Function: FUNCTION: Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) (By similarity). May also be activated by intracellular calcium store depletion. {ECO:0000250}.;
Pathway: Signaling by GPCR;Signal Transduction;Stimuli-sensing channels;Ion channel transport;Transport of small molecules;Effects of PIP2 hydrolysis;Platelet activation, signaling and aggregation;Hemostasis;TRP channels;Elevation of cytosolic Ca2+ levels;Platelet calcium homeostasis;Platelet homeostasis;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.144

Intolerance Scores

loftool: 0.109
rvis_EVS: -0.13
rvis_percentile_EVS: 43.98

Haploinsufficiency Scores

pHI: 0.355
hipred: Y
hipred_score: 0.685
ghis: 0.422

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.896

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Trpc7
Phenotype: vision/eye phenotype;

Gene ontology

Biological process: manganese ion transport;single fertilization;platelet activation;regulation of cytosolic calcium ion concentration;calcium ion transmembrane transport
Cellular component: nuclear envelope;cis-Golgi network;plasma membrane;integral component of plasma membrane;cation channel complex;perinuclear region of cytoplasm
Molecular function: calcium channel activity;protein binding;store-operated calcium channel activity;inositol 1,4,5 trisphosphate binding