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.
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
protein bindingvesicle transport along microtubuleGolgi to secretory granule transportsmall GTPase bindingpolycystic kidney disease 5Senior-Boichis syndromeGenetic renal or urinary tract malformationhepatorenocardiac degenerative fibrosis
Based on limited published evidence, BICDL2 functions as a cargo adaptor protein involved in vesicular transport. Structurally annotated functions include protein binding and mediation of Golgi to secretory granule transport via microtubule-dependent mechanisms. Recent studies identified BICDL2 as a putative pyroptosis-related biomarker in chr16 low back pain 1 and demonstrated that the rs9927163 variant functions as an eQTL for BICDL2 expression in whole blood, with regulatory roles in T cell-specific chr16 2. However, direct functional studies of BICDL2 are lacking, and its specific molecular role in disease pathogenesis remains unclear.
1
rs9927163 variant identified as eQTL for BICDL2 in whole blood; located within T cell-specific H3K4me3 peak involved in tuberculosis susceptibility
PMID: 394423402
BICDL2 identified as one of five hub genes associated with pyroptosis and proposed as diagnostic biomarker for chronic low back pain
PMID: 40670404β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
polycystic kidney disease 5Open Targets
Senior-Boichis syndromeOpen Targets
Genetic renal or urinary tract malformationOpen Targets
hepatorenocardiac degenerative fibrosisOpen Targets
glycoprotein storage diseaseOpen Targets
hemoglobin H diseaseOpen Targets
pancreatic adenocarcinomaOpen Targets
congenital neutropenia-myelofibrosis-nephromegaly syndromeOpen Targets
Recurrent infections-myelofibrosis-nephromegaly syndromeOpen Targets
dominant beta-thalassemiaOpen Targets
nephronophthisisOpen Targets
neutropenia, severe congenital, 9, autosomal dominantOpen Targets
Hemoglobin C - beta-thalassemiaOpen Targets
hemoglobin C-beta-thalassemia syndromeOpen Targets
nephronophthisis 3Open Targets
familial juvenile hyperuricemic nephropathy type 2Open Targets
Hyperuricemia - anemia - renal failureOpen Targets
congenital hydronephrosisOpen Targets
combined immunodeficiency due to OX40 deficiencyOpen Targets
renal dysplasiaOpen Targets
No pathogenic variants reported on ClinVar for this gene.