1 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.
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETranscription Factor
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
protein bindingDNA-binding transcription factor activityregulation of DNA-templated transcriptionnucleusage-related hearing impairmenttype 2 diabetes mellitushearing losssubstance-related disorder
Based on limited published evidence, GPBP1L1 is a possible transcription factor with DNA-binding and protein-binding capabilities localized to the nucleus, where it may regulate DNA-templated transcription. The gene was identified as a potential cardiac-relevant locus in a study of stress cardiomyopathy patients, where copy number variants in GPBP1L1 were observed in individuals with earthquake-induced takotsubo syndrome 1. However, functional characterization remains incomplete.
1
GPBP1L1 copy number variants were identified in stress cardiomyopathy patients, suggesting potential cardiac relevance, though functional role is unclear
PMID: 29765130β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
age-related hearing impairmentOpen Targets
type 2 diabetes mellitusOpen Targets
substance-related disorderOpen Targets
joint diseaseOpen Targets
Eczematoid dermatitisOpen Targets
glioblastoma multiformeOpen Targets
oligodendrogliomaOpen Targets
non-small cell lung carcinomaOpen Targets
ovarian cancerOpen Targets
breast cancerOpen Targets
gastric cancerOpen Targets
hepatocellular carcinomaOpen Targets
urinary bladder cancerOpen Targets
No pathogenic variants reported on ClinVar for this gene.
No tissue expression data available for this gene.