HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BLCAP
BLCAP apoptosis inducing factor
Chromosome 20 · 20q11.23
NCBI Gene: 10904Ensembl: ENSG00000166619.16HGNC: HGNC:1055UniProt: P62952
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingapoptotic nuclear changesnucleuscytoplasmAlzheimer diseaseAbnormal pupillary functionneoplasmchronic laryngitis
✦AI Summary

BLCAP (BLCAP apoptosis inducing factor) functions as a tumor suppressor gene that regulates cell proliferation and apoptosis through multiple mechanisms. The protein induces S-phase cell cycle arrest and apoptosis via RB1-dependent pathways that are independent of p53 and NF-κB signaling 1. BLCAP directly interacts with RB1 and inhibits its phosphorylation, preventing G1/S checkpoint progression and maintaining cell cycle control 2. The gene modulates expression of proliferation, cell cycle, and apoptosis-related genes, including upregulation of p21(WAF1/CIP1) and downregulation of anti-apoptotic proteins Bcl-XL and Bcl-2 1. BLCAP undergoes extensive A-to-I RNA editing by ADAR1 and ADAR2 enzymes, creating alternative protein isoforms 3. Importantly, RNA editing levels are generally decreased in multiple cancers including astrocytomas, bladder, and colorectal cancers compared to normal tissues 3. Over-editing of BLCAP promotes its degradation through ubiquitination, reducing its tumor suppressor function and facilitating increased cell proliferation and reduced apoptosis 4. In hepatocellular carcinoma, BLCAP over-editing activates the AKT/mTOR signaling pathway, contributing to tumorigenesis 5. The protein shows promise as both a therapeutic target and potential biomarker for immunotherapy response 6.

Sources cited
1
BLCAP induces S-phase arrest and apoptosis independent of p53 and NF-κB, upregulates p21 and downregulates Bcl-XL/Bcl-2
PMID: 17031575
2
BLCAP interacts with RB1 and inhibits its phosphorylation to arrest G1/S checkpoint
PMID: 26986503
3
BLCAP undergoes A-to-I RNA editing by ADAR1/ADAR2 enzymes with decreased editing in multiple cancers
PMID: 19908260
4
RNA editing promotes BLCAP degradation through ubiquitination, reducing tumor suppressor function
PMID: 35605649
5
BLCAP over-editing in hepatocellular carcinoma activates AKT/mTOR pathway contributing to tumorigenesis
PMID: 25499081
6
BLCAP shows promise as biomarker for anti-CTLA-4 immunotherapy response
PMID: 37055532
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.20Weak
Abnormal pupillary functionOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
chronic laryngitisOpen Targets
0.08Suggestive
ovarian dysfunctionOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
MODYOpen Targets
0.06Suggestive
cervical cancerOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.05Suggestive
diabetes mellitus, transient neonatal, 3Open Targets
0.04Suggestive
maturity-onset diabetes of the young type 13Open Targets
0.04Suggestive
permanent neonatal diabetes mellitus 1Open Targets
0.04Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.04Suggestive
hyperproinsulinemiaOpen Targets
0.04Suggestive
Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
glycogen storage disorder due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
invasive lobular carcinomaOpen Targets
0.03Suggestive
astrocytomaOpen Targets
0.03Suggestive
breast neoplasmOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NNATProtein interaction97%DEDD2Shared pathway11%ACVR1CShared pathway7%HNF1AShared pathway6%CDK5RAP3Shared pathway5%
Tissue Expression6 tissues
Brain
100%
Liver
86%
Heart
72%
Ovary
44%
Lung
43%
Bone Marrow
35%
Gene Interaction Network
Click a node to explore
BLCAPNNATDEDD2ACVR1CHNF1ACDK5RAP3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P62952
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.72Intermediate
Observed/Expected LoF0.17 [0.06–0.81]
RankingsWhere BLCAP stands among ~20K protein-coding genes
  • #10,592of 20,598
    Most Researched37
  • #6,801of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedBLCAP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human BLCAP transcript: new editing events in normal and cancerous tissues.
PMID: 19908260
Int J Cancer · 2010
1.00
2
Aristolochic acid I interferes with the expression of BLCAP tumor suppressor gene in human cells.
PMID: 29655784
Toxicol Lett · 2018
0.90
3
Identification and characterization of ADAR1 mutations and changes in gene expression in human cancers.
PMID: 39488870
Cancer Genet · 2024
0.80
4
Predictive biomarkers of immunotherapy response with pharmacological applications in solid tumors.
PMID: 37055532
Acta Pharmacol Sin · 2023
0.70
5
Overexpression of BLCAP induces S phase arrest and apoptosis independent of p53 and NF-kappaB in human tongue carcinoma : BLCAP overexpression induces S phase arrest and apoptosis.
PMID: 17031575
Mol Cell Biochem · 2007
0.60