TRPC7
protein-codingtransient receptor potential cation channel subfamily C member 7, the group of Ankyrin repeat domain containing|Transient receptor potential cation channels
Gene summary
Predicted to enable inositol 1,4,5 trisphosphate binding activity and store-operated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport; regulation of cytosolic calcium ion concentration; and single fertilization. Predicted to act upstream of or within calcium ion transport and manganese ion transport. Predicted to be located in membrane; nuclear envelope; and perinuclear region of cytoplasm. Predicted to be part of cation channel complex. Predicted to be active in plasma membrane. Implicated in lung cancer. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~152.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TRPC7 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_020389.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 1 | 3 | |||
| missense | 100 | 100 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 102 | 1 | 0 | 103 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_065122.1 | 12 | MANE Select | |
| Ensembl | ENSP00000426070.2 | 12 | MANE Select | |
| RefSeq | NP_001161048.1 | 10 | Standard | |
| RefSeq | NP_001161049.1 | 11 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Signaling by GPCR
- Signal Transduction
- Stimuli-sensing channels
- Ion channel transport
- Transport of small molecules
Biological Process
- manganese ion transport
- single fertilization
- platelet activation
- regulation of cytosolic calcium ion concentration
- calcium ion transmembrane transport
Molecular Function
- calcium channel activity
- protein binding
- store-operated calcium channel activity
- inositol 1,4,5 trisphosphate binding
Cellular Component
- nuclear envelope
- cis-Golgi network
- plasma membrane
- integral component of plasma membrane
- cation channel complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000513104
- Coding exons
- 12
- Length
- 183732
- Individuals with no LoFs
- 125321
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 25
- Defined
- 125346
- p
- 0.0000997
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 2.31 | 384 | 534 | 0.719 | 0.0000340 | 5671 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000065 | 0.000062 | rare |
| Latino/Admixed American | 0.000029 | 0.000029 | rare |
| Ashkenazi Jewish | 0.00030 | 0.00030 | rare |
| East Asian | 0.00034 | 0.00033 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00011 | 0.00011 | rare |
| South Asian | 0.000034 | 0.000033 | rare |
| Other | 0.00017 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- 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}.;
Recessive Scores
- pRec
- 0.144
Intolerance Scores
- LoFtool
- 0.109
- RVIS EVS
- -0.13
- RVIS percentile EVS
- 43.98
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.896
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |