2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
cytosolprimary biliary cirrhosismultiple sclerosispreeclampsiaimmunodeficiency 88
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.
1
ZC3HAV1L forms interchromosomal chimeric transcripts with CHMP1A via trans-splicing in human cells with multiple splice variants
PMID: 232730162
ZC3HAV1L was included in an immune-related gene signature for colon cancer prognosis prediction
PMID: 34938284β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
primary biliary cirrhosisOpen Targets
multiple sclerosisOpen Targets
immunodeficiency 88Open Targets
linear and whorled nevoid hypermelanosisOpen Targets
chronic myeloproliferative disorderOpen Targets
eosinophil peroxidase deficiencyOpen Targets
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
humerus fractureOpen Targets
hypothyroidismOpen Targets
autoimmune diseaseOpen Targets
Hashimoto's thyroiditisOpen Targets
IGA glomerulonephritisOpen Targets
cervical cancerOpen Targets
bladder transitional cell carcinomaOpen Targets
breast cancerOpen Targets
cutaneous lupus erythematosusOpen Targets
No pathogenic variants reported on ClinVar for this gene.