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GeneE
6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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VWA7
von Willebrand factor A domain containing 7
Chromosome 6 · 6p21.33
NCBI Gene: 80737Ensembl: ENSG00000204396.11HGNC: HGNC:13939UniProt: A0A1U9X8T7
14PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
extracellular regionmolecular_functionbiological_processcellular_component
✦AI Summary

VWA7 (von Willebrand factor A domain containing 7) is a poorly characterized protein with emerging evidence suggesting phospholipase C activity. Recent structural analysis indicates VWA7 functions as a putative phosphatidylcholine-specific phospholipase C (pc-PLC), with the N-terminal region demonstrating high structural similarity to bacterial pc-PLC and a conserved active site architecture 1. Recombinant VWA7 variants expressed in bacteria exhibited confirmed pc-PLC enzymatic activity, with optimal variants reaching 733 mU/mg 1. VWA7 has been associated with multiple disease phenotypes through genetic studies. DNA methylation at the VWA7 locus (cg22112841) was identified as associated with lifetime cannabis use disorder in a veteran cohort enriched for posttraumatic stress disorder 2. Additionally, VWA7 was enriched for rare variants in papillary thyroid carcinoma patients and associated with PTC predisposition risk 3. Genome-wide association studies in Arab populations revealed suggestive associations between VWA7 variants and elevated fasting plasma glucose, a key metabolic trait in type 2 diabetes 4. Despite these genetic associations across multiple disease contexts, the physiological role of VWA7 and mechanisms linking its pc-PLC activity to disease pathogenesis remain poorly understood and require further investigation.

Sources cited
1
VWA7 functions as a putative phosphatidylcholine-specific phospholipase C with conserved active site architecture and confirmed enzymatic activity
PMID: 40449613
2
VWA7 DNA methylation (cg22112841) is associated with lifetime cannabis use disorder in veterans
PMID: 38309009
3
VWA7 is enriched for rare variants and associated with papillary thyroid carcinoma predisposition
PMID: 37686511
4
VWA7 variants show suggestive association with fasting plasma glucose in Arab populations
PMID: 31932636
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SMIM46Shared pathway100%C8orf90Shared pathway100%SMIM44Shared pathway100%C21orf140Shared pathway100%CIMIP7Shared pathway100%ZNF862Shared pathway100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
VWA7SMIM46C8orf90SMIM44C21orf140CIMIP7ZNF862
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9Y334
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.98LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.66–0.98]
RankingsWhere VWA7 stands among ~20K protein-coding genes
  • #16,043of 20,598
    Most Researched14
  • #9,323of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedVWA7
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Genome-wide DNA methylation analysis of cannabis use disorder in a veteran cohort enriched for posttraumatic stress disorder.
PMID: 38309009
Psychiatry Res · 2024
1.00
2
VWA7 - A Putative Human Phosphatidylcholine-specific Phospholipase C.
PMID: 40449613
J Mol Biol · 2025
0.83
3
Whole Exome-Wide Association Identifies Rare Variants in
PMID: 37686511
Cancers (Basel) · 2023
0.67
4
G7c, a novel gene in the mouse and human major histocompatibility complex class III region, possibly controlling lung tumor susceptibility.
PMID: 10803853
Immunogenetics · 2000
0.50
5
Genome-wide association study identifies novel risk variants from RPS6KA1, CADPS, VARS, and DHX58 for fasting plasma glucose in Arab population.
PMID: 31932636
Sci Rep · 2020
0.33