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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BICC1
BicC family RNA binding protein 1
Chromosome 10 Β· 10q21.1
NCBI Gene: 80114Ensembl: ENSG00000122870.12HGNC: HGNC:19351UniProt: Q9H694
42PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA bindingnegative regulation of canonical Wnt signaling pathwaydetermination of left/right symmetrymRNA catabolic processgoutopen-angle glaucomahyperuricemiahypertension
✦AI Summary

BICC1 is an RNA-binding protein that regulates multiple cellular pathways critical for kidney function and tumorigenesis. As a negative regulator of Wnt signaling [UniProt], BICC1 functionally interacts with polycystin-1 and polycystin-2 proteins; depletion of Bicc1 in conjunction with Pkd1 or Pkd2 loss results in aggravated polycystic kidney disease in animal models and human patients, indicating BICC1's protective role in kidney cyst formation 1. In chr10 kidney disease progression, BICC1 variants are associated with slower eGFR decline, suggesting a renoprotective function 2. In pancreatic cancer, BICC1 drives stemness and chemoresistance by facilitating tryptophan metabolism through IDO1 upregulation, promoting NAD+ synthesis and oxidative phosphorylation 3. BICC1 also drives VEGF-independent angiogenesis by post-transcriptionally upregulating Lipocalin-2 (LCN2) mRNA via 3'UTR binding, activating JAK2/STAT3 signaling and CXCL1 production 4. Additionally, BICC1 promotes epithelial-mesenchymal transition and immune cell infiltration, correlating with lymph node metastasis and poor prognosis 5. BICC1 is also implicated in epigenetic regulation of muscle hypertrophy, showing hypomethylation and enhanced expression after resistance exercise 6.

Sources cited
1
BICC1 variants (rs11592748) associated with slower eGFR decline in CKD progression
PMID: 37261792
2
BICC1 activates tryptophan catabolism via IDO1 to drive pancreatic cancer stemness and chemoresistance
PMID: 38896624
3
BICC1 binds LCN2 mRNA 3'UTR to activate JAK2/STAT3/CXCL1 signaling in VEGF-independent angiogenesis
PMID: 37443111
4
BICC1 promotes epithelial-mesenchymal transition and immune infiltration in pancreatic cancer with poor prognosis
PMID: 37880742
5
BICC1 physically binds polycystin-1/2 and cooperates with PKD1/PKD2; BICC1 depletion aggravates polycystic kidney disease in mice and Xenopus
PMID: 39253489
6
BICC1 shows hypomethylation and enhanced expression after resistance exercise with epigenetic memory of muscle hypertrophy
PMID: 29382913
Disease Associationsβ“˜21
goutOpen Targets
0.51Moderate
open-angle glaucomaOpen Targets
0.50Moderate
hyperuricemiaOpen Targets
0.49Moderate
hypertensionOpen Targets
0.48Moderate
glaucomaOpen Targets
0.48Moderate
chronic kidney diseaseOpen Targets
0.47Moderate
Cystic renal dysplasiaOpen Targets
0.46Moderate
myopiaOpen Targets
0.45Moderate
refractive errorOpen Targets
0.44Moderate
Increased blood pressureOpen Targets
0.43Moderate
kidney failureOpen Targets
0.42Moderate
HypermetropiaOpen Targets
0.39Weak
Abnormality of refractionOpen Targets
0.38Weak
eye diseaseOpen Targets
0.31Weak
Progressive visual lossOpen Targets
0.31Weak
essential hypertensionOpen Targets
0.30Weak
anemiaOpen Targets
0.30Weak
enterobiasisOpen Targets
0.30Weak
coronary artery diseaseOpen Targets
0.29Weak
AlkalosisOpen Targets
0.27Weak
Renal dysplasia, cysticUniProt
Pathogenic Variants5
NM_001080512.3(BICC1):c.1179+1G>TLikely pathogenic
Renal dysplasia, cystic, susceptibility to
β˜…β˜†β˜†β˜†2022
NM_001080512.3(BICC1):c.2229_2230insGA (p.Lys744fs)Likely pathogenic
Renal dysplasia, cystic, susceptibility to
β˜…β˜†β˜†β˜†2022β†’ Residue 744
NM_001080512.3(BICC1):c.1827del (p.Glu609fs)Likely pathogenic
Renal dysplasia, cystic, susceptibility to
β˜…β˜†β˜†β˜†2022β†’ Residue 609
NM_001080512.3(BICC1):c.387+1G>CLikely pathogenic
Renal agenesis
β˜…β˜†β˜†β˜†2021
NM_001080512.3(BICC1):c.93del (p.Glu32fs)Pathogenic
Renal dysplasia, cystic, susceptibility to
β˜…β˜†β˜†β˜†2021β†’ Residue 32
View on ClinVar β†—
Related Genes
ANKS3Protein interaction75%PPHLN1Protein interaction74%TLE7Shared pathway33%TPBGLShared pathway33%TMEM170BShared pathway33%TMEM278Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Heart
80%
Lung
42%
Liver
16%
Brain
8%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
BICC1ANKS3PPHLN1TLE7TPBGLTMEM170BTMEM278
PROTEIN STRUCTURE
Preparing viewer…
PDB4RQM Β· 1.75 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.54Moderately Constrained
pLIβ“˜
0.30Tolerant
Observed/Expected LoF0.41 [0.31–0.54]
RankingsWhere BICC1 stands among ~20K protein-coding genes
  • #9,839of 20,598
    Most Researched42
  • #3,592of 5,498
    Most Pathogenic Variants5
  • #3,427of 17,882
    Most Constrained (LOEUF)0.54 Β· top quartile
Genes detectedBICC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genome-Wide Association Study of CKD Progression.
PMID: 37261792
J Am Soc Nephrol Β· 2023
1.00
2
BICC1 drives pancreatic cancer stemness and chemoresistance by facilitating tryptophan metabolism.
PMID: 38896624
Sci Adv Β· 2024
0.90
3
BICC1 drives pancreatic cancer progression by inducing VEGF-independent angiogenesis.
PMID: 37443111
Signal Transduct Target Ther Β· 2023
0.80
4
FGFR inhibitors: Effects on cancer cells, tumor microenvironment and whole-body homeostasis (Review).
PMID: 27245147
Int J Mol Med Β· 2016
0.70
5
Understanding and Overcoming Resistance to Selective FGFR Inhibitors across FGFR2-Driven Malignancies.
PMID: 39226398
Clin Cancer Res Β· 2024
0.60