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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BCCIP
BRCA2 and CDKN1A interacting protein
Chromosome 10 · 10q26.2
NCBI Gene: 56647Ensembl: ENSG00000107949.18HGNC: HGNC:978UniProt: Q9P287
125PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cyclin-dependent protein serine/threonine kinase activityDNA bindingRNA bindingprotein bindingneurodegenerative diseaseAlzheimer diseaselysosomal storage diseasechronic kidney disease
✦AI Summary

BCCIP (BRCA2 and CDKN1A interacting protein) is a multifunctional tumor suppressor with roles spanning DNA repair, cell cycle regulation, and ribosome biogenesis. During interphase, BCCIP organizes and anchors microtubules at the centrosome, while during mitosis it stabilizes spindle pole organization, with isoform 2/alpha being particularly critical for spindle architecture and orientation 1. BCCIP enhances cell cycle arrest by potentiating CDKN1A-mediated CDK2 inhibition and functions as a BRCA2 cofactor in homologous recombination-mediated DNA repair 2. During replication stress, BCCIP recruits to stalled replication forks and prevents MRE11-mediated degradation of nascent DNA strands, protecting genomic stability 3. Additionally, BCCIP localizes to the nucleolus and is essential for 60S ribosome biogenesis by recruiting eIF6 and facilitating 12S pre-rRNA production 4. BCCIP expression is transcriptionally regulated by the INO80/YY1 chr10 remodeling complex in a feedback loop involving YY1 stability 56. Clinically, BCCIP downregulation occurs in 74-89% of ovarian cancer, renal cell carcinoma, and colorectal cancer samples and correlates with poor prognosis, tumor grade, and metastatic potential 27. BCCIP knockout causes embryonic lethality in mice, while partial loss triggers genomic instability and tumorigenesis 8.

Sources cited
1
BCCIP isoforms regulate microtubule anchoring, spindle architecture, and organization during interphase and mitosis
PMID: 28394342
2
BCCIP expression is significantly downregulated in ovarian cancer, renal cell carcinoma, and colorectal cancer tissues with clinical relevance
PMID: 24101097
3
BCCIP prevents MRE11-mediated degradation of nascent DNA at stalled replication forks during replication stress
PMID: 35592921
4
BCCIP localizes to the nucleolus and is required for eIF6 recruitment and 60S ribosome biogenesis
PMID: 33245766
5
INO80/YY1 chromatin remodeling complex transcriptionally regulates BCCIP expression
PMID: 27535137
6
BCCIP and YY1 form a feedback regulatory loop where BCCIP stabilizes YY1 to promote its own transcription
PMID: 29932276
7
BCCIP downregulation in ccRCC correlates with tumor grade, TNM stage, lymph node metastasis, and poor progression-free survival
PMID: 38342812
8
BCCIP knockout causes embryonic lethality and BCCIP deficiency results in impaired cell proliferation and chromosome instability
PMID: 33452718
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
Alzheimer diseaseOpen Targets
0.28Weak
lysosomal storage diseaseOpen Targets
0.25Weak
chronic kidney diseaseOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
early-onset non-syndromic cataractOpen Targets
0.06Suggestive
retinitis pigmentosaOpen Targets
0.05Suggestive
astrocytomaOpen Targets
0.05Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
Cataract-microcornea syndromeOpen Targets
0.05Suggestive
isolated ectopia lentisOpen Targets
0.05Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.04Suggestive
Posterior polar cataractOpen Targets
0.04Suggestive
Partial congenital cataractOpen Targets
0.04Suggestive
Total congenital cataractOpen Targets
0.04Suggestive
snowflake vitreoretinal degenerationOpen Targets
0.04Suggestive
triple-negative breast cancerOpen Targets
0.04Suggestive
exfoliation syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BRCA2Protein interaction100%CDKN1AProtein interaction99%EIF6Protein interaction97%UROSProtein interaction96%DHX32Protein interaction96%RPF2Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
89%
Ovary
73%
Liver
71%
Brain
63%
Lung
50%
Gene Interaction Network
Click a node to explore
BCCIPBRCA2CDKN1AEIF6UROSDHX32RPF2
PROTEIN STRUCTURE
Preparing viewer…
PDB7KYS · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.53–1.05]
RankingsWhere BCCIP stands among ~20K protein-coding genes
  • #3,755of 20,598
    Most Researched125 · top quartile
  • #10,548of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedBCCIP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structure of human BCCIP and implications for binding and modification of partner proteins.
PMID: 33452718
Protein Sci · 2021
1.00
2
Differential BCCIP gene expression in primary human ovarian cancer, renal cell carcinoma and colorectal cancer tissues.
PMID: 24101097
Int J Oncol · 2013
0.90
3
Genomic structure of the human BCCIP gene and its expression in cancer.
PMID: 12527204
Gene · 2003
0.80
4
Human INO80/YY1 chromatin remodeling complex transcriptionally regulates the BRCA2- and CDKN1A-interacting protein (BCCIP) in cells.
PMID: 27535137
Protein Cell · 2016
0.70
5
BCCIP binds to and activates its promoter in a YY1-dependent fashion in HCT116 cells.
PMID: 29932276
FEBS J · 2018
0.60