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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TRPC4AP
transient receptor potential cation channel subfamily C member 4 associated protein
Chromosome 20 · 20q11.22
NCBI Gene: 26133Ensembl: ENSG00000100991.13HGNC: HGNC:16181UniProt: B4DW48
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolphosphatase bindingCul4A-RING E3 ubiquitin ligase complexubiquitin-like ligase-substrate adaptor activityhypertrophic cardiomyopathy 1Rare familial disorder with hypertrophic cardiomyopathydeep vein thrombosisheart disease
✦AI Summary

TRPC4AP is a substrate-recognition component of a DCX (DDB1-CUL4) E3 ubiquitin-protein ligase complex essential for cell cycle control 1. It specifically mediates polyubiquitination and degradation of MYC through the DesCEND (C-end degron) pathway, recognizing proteins with an arginine at the minus-3 position at their C-terminus 12. TRPC4AP also functions in calcium signaling, with recent evidence demonstrating that it partners with TRPC4 to enable hydrogen gas-triggered, reversible calcium transients via plasma membrane Ca²⁺ influx, with a critical dual-arginine motif in TRPC4 mediating this interaction 3. Disease relevance is substantial across multiple conditions. Rare coding variants in TRPC4AP associate with neuroticism in large exome studies 4, and common variants show convergent evidence for this association 4. A TRPC4AP haplotype is enriched in late-onset Alzheimer's disease patients (36% vs. 26% in controls; OR=1.56) 56, potentially linked to behavioral changes and hallucinations. Transcriptome-wide association identifies TRPC4AP/NCOA6 in restless legs syndrome susceptibility 7. Mendelian randomization analysis suggests TRPC4AP as a potential therapeutic target for coronary heart disease 8. These findings establish TRPC4AP as a multifunctional protein relevant to neurological and cardiovascular disease pathogenesis.

Sources cited
1
TRPC4AP is a substrate-recognition component of DCX E3 ubiquitin ligase complex that mediates MYC polyubiquitination and degradation
PMID: 20551172
2
TRPC4AP-DCX complex recognizes C-degron motif (R-3) in target proteins for ubiquitination via DesCEND pathway
PMID: 29779948
3
TRPC4AP partners with TRPC4 channel to enable hydrogen gas-triggered calcium transients through plasma membrane Ca2+ influx; critical arginine residues (Arg730/Arg731) in TRPC4 CIRB domain mediate this interaction
PMID: 41799190
4
Rare coding variants in TRPC4AP associate with neuroticism; common variants show convergent evidence for neuroticism association
PMID: 39511343
5
TRPC4AP H1 haplotype enriched in Alzheimer's disease patients (36% vs 26% controls; OR=1.56) with potential association to behavioral changes and hallucinations
PMID: 19059308
6
Genome-wide screen identifies TRPC4AP on chromosome 20q11.22 as relevant to late-onset Alzheimer's disease through haplotype analysis
PMID: 18449908
7
TRPC4AP/NCOA6 locus identified through transcriptome-wide association as susceptibility gene for restless legs syndrome
PMID: 32651461
8
Mendelian randomization analysis identifies TRPC4AP as potential therapeutic target for coronary heart disease
PMID: 40859556
Disease Associationsⓘ20
hypertrophic cardiomyopathy 1Open Targets
0.44Moderate
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.44Moderate
deep vein thrombosisOpen Targets
0.39Weak
heart diseaseOpen Targets
0.32Weak
pulmonary embolismOpen Targets
0.32Weak
Pulmonary InfarctionOpen Targets
0.31Weak
Short statureOpen Targets
0.30Weak
hypertrophic cardiomyopathyOpen Targets
0.30Weak
skin neoplasmOpen Targets
0.30Weak
ThromboembolismOpen Targets
0.29Weak
phototoxic dermatitisOpen Targets
0.28Weak
portal hypertensionOpen Targets
0.23Weak
hidradenitisOpen Targets
0.22Weak
basal cell carcinomaOpen Targets
0.22Weak
left ventricular noncompactionOpen Targets
0.12Weak
Flexion contractureOpen Targets
0.11Weak
congenital left-sided heart lesionsOpen Targets
0.08Suggestive
sebaceous gland diseaseOpen Targets
0.08Suggestive
cutaneous squamous cell carcinomaOpen Targets
0.08Suggestive
Epidermal Inclusion CystOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GLMNProtein interaction100%DET1Protein interaction100%CRBNProtein interaction100%DTLProtein interaction100%ERCC8Protein interaction99%CDKN1BProtein interaction99%
Tissue Expression6 tissues
Lung
100%
Liver
85%
Bone Marrow
82%
Ovary
64%
Brain
57%
Heart
55%
Gene Interaction Network
Click a node to explore
TRPC4APGLMNDET1CRBNDTLERCC8CDKN1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TEL6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.44 [0.34–0.56]
RankingsWhere TRPC4AP stands among ~20K protein-coding genes
  • #8,261of 20,598
    Most Researched55
  • #3,682of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedTRPC4AP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Large-scale exome sequencing identified 18 novel genes for neuroticism in 394,005 UK-based individuals.
PMID: 39511343
Nat Hum Behav · 2025
1.00
2
Myc protein is stabilized by suppression of a novel E3 ligase complex in cancer cells.
PMID: 20551172
Genes Dev · 2010
0.90
3
Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes.
PMID: 32651461
Commun Biol · 2020
0.80
4
The frequency of the TRPC4AP haplotype in Alzheimer's patients.
PMID: 19059308
Neurosci Lett · 2009
0.70
5
Molecular hydrogen triggers TRPC4-TRPC4AP-dependent reversible calcium transients via extracellular influx.
PMID: 41799190
Theranostics · 2026
0.60