1 sources retrieved · Most recent: April 2026 · Index updated 16 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Swiss-Prot Reviewed
neurodegenerative diseasediffuse large B-cell lymphomaneurodegeneration, infantile-onset, with optic atrophy and brain abnormalitieslymphoma
Based on limited published evidence, BORCS8-MEF2B is a readthrough transcript located on chromosome 19.11. The gene has been identified as constitutively upregulated in peripheral blood mononuclear cells (PBMCs) of celiac disease (CD) patients regardless of gluten-free diet treatment 1. RNAseq profiling indicates BORCS8-MEF2B is located within a CD-associated genetic locus. However, the specific molecular function and biological role of this readthrough transcript remain undetermined from available literature.
1
BORCS8-MEF2B is constitutively upregulated in CD patient PBMCs and located within a CD-associated genetic locus on 19p13.11
PMID: 33362776⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
diffuse large B-cell lymphomaOpen Targets
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalitiesOpen Targets
non-Hodgkins lymphomaOpen Targets
lysosomal storage diseaseOpen Targets
cervical carcinomaOpen Targets
hypopituitarismOpen Targets
B-cell non-Hodgkins lymphomaOpen Targets
non-small cell lung carcinomaOpen Targets
Abnormality of the skeletal systemOpen Targets
Mantle cell lymphomaOpen Targets
dilated cardiomyopathyOpen Targets
alcoholic liver diseaseOpen Targets
non-alcoholic fatty liver diseaseOpen Targets
pancreatic adenocarcinomaOpen Targets
head and neck squamous cell carcinomaOpen Targets
Miyoshi myopathyOpen Targets
marginal zone B-cell lymphomaOpen Targets
No pathogenic variants reported on ClinVar for this gene.