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): 5:136212744-136365545

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.

• Inborn genetic diseases (19 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.

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				1		1
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in TRPC7

This is a list of pathogenic ClinVar variants found in the TRPC7 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-136213460-C-T		not specified	Uncertain significance (Oct 26, 2021)
5-136216262-C-T		not specified	Uncertain significance (Aug 02, 2021)
5-136226102-G-A		not specified	Uncertain significance (Aug 17, 2022)
5-136231423-G-A			Likely benign (Oct 01, 2022)
5-136231473-C-T		not specified	Uncertain significance (Oct 03, 2022)
5-136231544-T-C		not specified	Uncertain significance (Jan 03, 2024)
5-136247496-C-T		not specified	Uncertain significance (Aug 09, 2021)
5-136247501-C-G		not specified	Uncertain significance (Sep 14, 2023)
5-136247501-C-T		not specified	Uncertain significance (Jul 19, 2023)
5-136247682-C-T		not specified	Uncertain significance (Mar 27, 2023)
5-136251721-C-T		not specified	Uncertain significance (Jul 19, 2023)
5-136251763-G-A		not specified	Uncertain significance (Aug 08, 2022)
5-136251777-G-A		not specified	Uncertain significance (Dec 17, 2023)
5-136251847-C-T		not specified	Uncertain significance (Oct 05, 2022)
5-136266257-G-T		not specified	Uncertain significance (Oct 17, 2023)
5-136266339-C-T		not specified	Uncertain significance (Aug 02, 2023)
5-136274787-T-A		not specified	Uncertain significance (Sep 20, 2023)
5-136315608-C-T		not specified	Uncertain significance (Dec 22, 2023)
5-136315731-C-G		not specified	Uncertain significance (Dec 07, 2023)
5-136356682-C-T		not specified	Uncertain significance (Jun 07, 2023)
5-136356773-C-G		not specified	Uncertain significance (May 09, 2023)
5-136357062-G-A		not specified	Uncertain significance (Jan 26, 2022)
5-136357107-G-A		not specified	Uncertain significance (Aug 09, 2021)
5-136357147-C-A		not specified	Uncertain significance (Sep 20, 2023)
5-136357175-G-T		not specified	Uncertain significance (Jul 19, 2023)

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