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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZC3HAV1L
ZC3HAV1 like
Chromosome 7 Β· 7q34
NCBI Gene: 92092Ensembl: ENSG00000146858.8HGNC: HGNC:22423UniProt: Q96H79
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolprimary biliary cirrhosismultiple sclerosispreeclampsiaimmunodeficiency 88
✦AI Summary

Based on limited published evidence, ZC3HAV1L is a cytosolic protein whose function remains largely uncharacterized. The gene is located on chromosome 7 and has been identified in a risk score system for colon cancer prognosis 1. ZC3HAV1L is notable for forming an interchromosomal chimeric transcript with CHMP1A through trans-splicing in normal human cells and tissues, with three variants detected, suggesting involvement in complex splicing mechanisms 2. No direct functional studies of ZC3HAV1L itself have been published.

Sources cited
1
ZC3HAV1L forms interchromosomal chimeric transcripts with CHMP1A via trans-splicing in human cells with multiple splice variants
PMID: 23273016
2
ZC3HAV1L was included in an immune-related gene signature for colon cancer prognosis prediction
PMID: 34938284
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
primary biliary cirrhosisOpen Targets
0.18Weak
multiple sclerosisOpen Targets
0.17Weak
preeclampsiaOpen Targets
0.06Suggestive
immunodeficiency 88Open Targets
0.04Suggestive
linear and whorled nevoid hypermelanosisOpen Targets
0.03Suggestive
chronic myeloproliferative disorderOpen Targets
0.03Suggestive
eosinophil peroxidase deficiencyOpen Targets
0.03Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.03Suggestive
humerus fractureOpen Targets
0.03Suggestive
hypothyroidismOpen Targets
0.02Suggestive
autoimmune diseaseOpen Targets
0.02Suggestive
Hashimoto's thyroiditisOpen Targets
0.02Suggestive
IGA glomerulonephritisOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
bladder transitional cell carcinomaOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
cutaneous lupus erythematosusOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
SepsisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PARP11Protein interaction89%
Tissue Expression6 tissues
Ovary
100%
Heart
41%
Lung
32%
Bone Marrow
23%
Brain
10%
Liver
8%
Gene Interaction Network
Click a node to explore
ZC3HAV1LPARP11
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96H79
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.41LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.00 [0.72–1.41]
RankingsWhere ZC3HAV1L stands among ~20K protein-coding genes
  • #10,422of 20,598
    Most Researched39
  • #14,583of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedZC3HAV1L
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Detection of a common chimeric transcript between human chromosomes 7 and 16.
PMID: 23273016
Biol Direct Β· 2012
1.00
2
TNFRSF11B Suppresses Memory CD4+ T Cell Infiltration in the Colon Cancer Microenvironment: A Multiomics Integrative Analysis.
PMID: 34938284
Front Immunol Β· 2021
0.50