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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.
BICDL2
BICD family like cargo adaptor 2
Chromosome 16 Β· 16p13.3
NCBI Gene: 146439Ensembl: ENSG00000162069.17HGNC: HGNC:33584UniProt: A1A5D9
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ 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
✦AI Summary

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.

Sources cited
1
rs9927163 variant identified as eQTL for BICDL2 in whole blood; located within T cell-specific H3K4me3 peak involved in tuberculosis susceptibility
PMID: 39442340
2
BICDL2 identified as one of five hub genes associated with pyroptosis and proposed as diagnostic biomarker for chronic low back pain
PMID: 40670404
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
polycystic kidney disease 5Open Targets
0.05Suggestive
Senior-Boichis syndromeOpen Targets
0.04Suggestive
Genetic renal or urinary tract malformationOpen Targets
0.04Suggestive
hepatorenocardiac degenerative fibrosisOpen Targets
0.04Suggestive
glycoprotein storage diseaseOpen Targets
0.04Suggestive
hemoglobin H diseaseOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
congenital neutropenia-myelofibrosis-nephromegaly syndromeOpen Targets
0.04Suggestive
Recurrent infections-myelofibrosis-nephromegaly syndromeOpen Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
nephronophthisisOpen Targets
0.03Suggestive
neutropenia, severe congenital, 9, autosomal dominantOpen Targets
0.03Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.03Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.03Suggestive
nephronophthisis 3Open Targets
0.03Suggestive
familial juvenile hyperuricemic nephropathy type 2Open Targets
0.03Suggestive
Hyperuricemia - anemia - renal failureOpen Targets
0.03Suggestive
congenital hydronephrosisOpen Targets
0.03Suggestive
combined immunodeficiency due to OX40 deficiencyOpen Targets
0.03Suggestive
renal dysplasiaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CDR2LShared pathway100%BICDL1Shared pathway50%DYNC1I1Shared pathway20%TRAK1Shared pathway17%TRAK2Shared pathway13%KIF16BShared pathway9%
Tissue Expression6 tissues
Lung
100%
Liver
22%
Brain
2%
Ovary
1%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
BICDL2CDR2LBICDL1DYNC1I1TRAK1TRAK2KIF16B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt A1A5D9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.62 [1.31–1.92]
RankingsWhere BICDL2 stands among ~20K protein-coding genes
  • #17,272of 20,598
    Most Researched9
  • #17,388of 17,882
    Most Constrained (LOEUF)1.92
Genes detectedBICDL2
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
A novel genetic association of IL32 with tuberculosis.
PMID: 39442340
Cytokine Β· 2024
1.00
2
Potential diagnostic and therapeutic gene in chronic low back pain through pyroptosis modulation: A silico study based on the dataset analysis.
PMID: 40670404
Sci Rep Β· 2025
0.50