BLID

Summary

BLID (BH3-like motif containing, cell death inducer, HGNC:33495) is a protein-coding gene on chromosome 11q24.1, encoding BH3-like motif-containing cell death inducer (Q8IZY5). Functions as a proapoptotic molecule through the caspase-dependent mitochondrial pathway of cell death.

This gene encodes a BH3-like motif containing protein involved in cell death. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion.

Source: NCBI Gene 414899 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 21 total
• MANE Select transcript: NM_001001786

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33495
Approved symbol	BLID
Name	BH3-like motif containing, cell death inducer
Location	11q24.1
Locus type	gene with protein product
Status	Approved
Aliases	BRCC2
Ensembl gene	ENSG00000259571
Ensembl biotype	protein_coding
OMIM	608853
Entrez	414899

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000560104

RefSeq mRNA: 1 — MANE Select: NM_001001786 NM_001001786

CCDS: CCDS31693

Canonical transcript exons

ENST00000560104 — 1 exons

Exon	Start	End
ENSE00002551396	122115340	122116215

Expression profiles

Bgee: expression breadth broad, 39 present calls, max score 69.33.

Top tissues by expression

187 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cartilage tissue	UBERON:0002418	69.33	gold quality
calcaneal tendon	UBERON:0003701	67.17	gold quality
corpus callosum	UBERON:0002336	65.94	gold quality
tendon	UBERON:0000043	56.98	gold quality
skin of hip	UBERON:0001554	46.80	silver quality
upper leg skin	UBERON:0004262	44.66	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
inferior vagus X ganglion	UBERON:0005363	43.05	gold quality
stromal cell of endometrium	CL:0002255	42.58	silver quality
secondary oocyte	CL:0000655	42.57	gold quality
caput epididymis	UBERON:0004358	42.30	gold quality
colonic epithelium	UBERON:0000397	42.10	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
oviduct epithelium	UBERON:0004804	41.22	gold quality
trigeminal ganglion	UBERON:0001675	41.15	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
ventricular zone	UBERON:0003053	40.78	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
skeletal muscle tissue	UBERON:0001134	40.58	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
ascending aorta	UBERON:0001496	40.36	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
medulla oblongata	UBERON:0001896	40.32	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ENAD-21	no	59.45
E-ANND-3	no	1.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting BLID, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-4293	99.22	65.46	1263
HSA-MIR-4796-3P	99.08	68.38	1681
HSA-MIR-501-5P	98.77	68.88	1328
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-1237-3P	98.55	67.65	1423
HSA-MIR-3944-5P	98.50	67.55	997
HSA-MIR-3132	97.96	67.91	711
HSA-MIR-676-3P	97.86	65.70	668
HSA-MIR-4676-5P	97.54	65.29	715
HSA-MIR-575	97.54	65.18	718
HSA-MIR-197-5P	97.23	68.10	596
HSA-MIR-3115	96.45	67.49	470
HSA-MIR-193A-5P	95.70	65.33	613

Literature-anchored findings (GeneRIF, showing 9)

• BRCC2 is a novel BH3-like domain-containing protein which induces apoptosis in a caspase-dependent manner (PMID:15069058)
• BLID gene is assigned to 11p24.1. (PMID:18940476)
• BLID is a new binding partner of Bcl-X(L) and a significant prognostic factor in breast cancer (PMID:20400521)
• BLID upregulation resulting from a novel IGH translocation is associated with childhood B-Cell precursor acute lymphoblastic leukemia. (PMID:20544842)
• Tag single nucleotide polymorphisms near the BLID and LOC399959 genes are not susceptibility loci for high myopia in the Chinese Han population. (PMID:21031016)
• Frequent loss of the BLID gene is observed in early-onset breast cancer. (PMID:21846966)
• BRCC2 functions as a novel tumor suppressor in breast cancer and may be a potential therapeutic target for breast cancer management. (PMID:23928696)
• loss of BLID may contribute to the progression of intraductal proliferation lesions to breast cancer. (PMID:24532431)
• MiR-501 knockdown or BH3-like motif-containing protein, cell death inducer (BLID) overexpression could reverse the effects of ADR Exo on recipient cells. (PMID:31173853)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

BH3-like motif-containing cell death inducer — Q8IZY5 (reviewed: Q8IZY5)

Alternative names: Breast cancer cell protein 2

All UniProt accessions (1): Q8IZY5

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a proapoptotic molecule through the caspase-dependent mitochondrial pathway of cell death.

Subcellular location. Cytoplasm. Mitochondrion.

Tissue specificity. Ubiquitously expressed.

RefSeq proteins (1): NP_001001786* (*=MANE)

Domains & families (InterPro)

UniProt features (5 total): chain 1, short sequence motif 1, sequence variant 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IZY5-F1	50.81	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (1):

Position	Phenotype
5	fails to induce apoptosis.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 19 (showing top): chr11q24, DODD_NASOPHARYNGEAL_CARCINOMA_DN, ZWANG_CLASS_2_TRANSIENTLY_INDUCED_BY_EGF, LHX9_TARGET_GENES, MIR501_5P, MIR3132, MIR197_5P, MIR3115, MIR193A_5P, MANNO_MIDBRAIN_NEUROTYPES_HGABA, DESCARTES_FETAL_CEREBELLUM_ASTROCYTES, GOBP_REGULATION_OF_PROGRAMMED_CELL_DEATH, GOBP_POSITIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH, GSE26928_EFF_MEM_VS_CENTR_MEM_CD4_TCELL_DN, GSE1791_CTRL_VS_NEUROMEDINU_IN_T_CELL_LINE_12H_DN

GO Biological Process (2): apoptotic process (GO:0006915), positive regulation of apoptotic process (GO:0043065)

GO Molecular Function (0):

GO Cellular Component (3): mitochondrion (GO:0005739), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
cellular anatomical structure	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

120 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BLID	SORL1	Q92673	807
BLID	CASP9	P55211	520
BLID	BCL2L1	Q07817	492
BLID	CASP3	P42574	420
BLID	CCDC102B	Q68D86	370
BLID	MS4A7	Q9GZW8	305
BLID	TBCEL	Q5QJ74	279
BLID	JHY	Q6NUN7	272
BLID	ANKRD30B	Q9BXX2	267
BLID	ELOF1	P60002	258
BLID	RABL2B	Q9UNT1	252
BLID	FRG2C	A6NGY1	249
BLID	FAM110C	Q1W6H9	248
BLID	PXT1	Q8NFP0	248
BLID	ZC3H11B	A0A1B0GTU1	247

IntAct

10 interactions, top by confidence:

A	B	Type	Score
AURKA	BLID	psi-mi:“MI:0915”(physical association)	0.370
BLID	CASP8	psi-mi:“MI:0915”(physical association)	0.370
BLID	CDH1	psi-mi:“MI:0915”(physical association)	0.370
FGFR4	BLID	psi-mi:“MI:0915”(physical association)	0.370
HRAS	BLID	psi-mi:“MI:0915”(physical association)	0.370
BLID	PARP1	psi-mi:“MI:0915”(physical association)	0.370
PAX2	BLID	psi-mi:“MI:0915”(physical association)	0.370
BLID	RB1CC1	psi-mi:“MI:0915”(physical association)	0.370
TGFB1	BLID	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (13): BLID (Two-hybrid), BLID (Two-hybrid), BLID (Two-hybrid), BLID (Two-hybrid), BLID (Two-hybrid), BLID (Two-hybrid), BLID (Two-hybrid), BLID (Two-hybrid), BLID (Two-hybrid), BLID (Reconstituted Complex), BLID (Affinity Capture-Western), BCL2L1 (Affinity Capture-Western), BCL2 (Affinity Capture-Western)

ESM2 similar proteins: A0A023PXH2, A0A385XJK5, A4D0Y5, A6NGG3, A7RHB3, B0L3A2, B1AK76, B6HUQ5, O13536, O29949, O43261, P03935, P0C5Q7, P0C750, P0CE99, P0DPG3, P0DXN9, P19282, P38194, P38476, P40326, P53132, P54949, P68341, P75692, P92540, P92561, Q10300, Q16048, Q21DF9, Q3B7S5, Q5K130, Q6B108, Q6GZN3, Q6Q5K6, Q6S6R7, Q75JK6, Q8IZY5, Q8N9L7, Q8TB33

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

21 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

105 predictions. Top by Δscore:

Variant	Effect	Δscore
11:122116132:C:CG	donor_gain	0.8000
11:122116131:A:AC	donor_gain	0.7900
11:122116129:TCA:T	donor_loss	0.7600
11:122116130:CA:C	donor_loss	0.7600
11:122116127:ACT:A	donor_loss	0.7500
11:122116132:CCAAA:C	donor_gain	0.7200
11:122116131:AC:A	donor_gain	0.7100
11:122116132:CC:C	donor_gain	0.7100
11:122116132:CCA:C	donor_gain	0.6800
11:122116132:CCAA:C	donor_gain	0.6800
11:122116176:A:AC	donor_gain	0.6600
11:122116177:T:C	donor_gain	0.6300
11:122116064:T:TA	donor_gain	0.6200
11:122116176:ATT:A	donor_gain	0.6200
11:122115962:T:TA	donor_gain	0.5800
11:122115718:T:TG	acceptor_gain	0.5700
11:122115719:T:G	acceptor_gain	0.5700
11:122116128:CTCA:C	donor_gain	0.5300
11:122116129:TC:T	donor_gain	0.5200
11:122116127:ACTC:A	donor_gain	0.5100
11:122116130:C:CT	donor_gain	0.5000
11:122116144:A:C	donor_gain	0.4900
11:122116131:ACCA:A	donor_gain	0.4800
11:122115733:C:CA	acceptor_gain	0.4500
11:122115915:G:C	donor_gain	0.4500
11:122116126:TACTC:T	donor_gain	0.4100
11:122115737:TTCC:T	acceptor_gain	0.4000
11:122115738:TCCT:T	acceptor_gain	0.4000
11:122115911:CAAAG:C	donor_gain	0.4000
11:122116172:A:AC	donor_gain	0.4000

AlphaMissense

685 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:122115881:G:C	F14L	0.694
11:122115881:G:T	F14L	0.694
11:122115883:A:G	F14L	0.694
11:122115839:C:A	W28C	0.633
11:122115839:C:G	W28C	0.633

dbSNP variants (sampled 300 via entrez): RS1000025309 (11:122115068 G>A), RS1000286406 (11:122115294 G>C), RS1000620569 (11:122116864 T>C), RS1002623384 (11:122117976 G>A), RS1003080536 (11:122117399 T>G), RS1005519076 (11:122116541 A>G), RS1005823338 (11:122116278 C>G), RS1006920765 (11:122118140 A>C), RS1006929550 (11:122114881 A>C,G), RS1007405470 (11:122117903 T>C), RS1010153745 (11:122114942 A>G), RS1010290903 (11:122115018 T>C), RS1010599234 (11:122115329 A>C,G), RS1012681320 (11:122117635 C>A,T), RS1013063798 (11:122117266 G>A,T)

Disease associations

OMIM: gene MIM:608853 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000491_1	Myopia (pathological)	2.000000e-07
GCST000789_4	Cardiovascular risk factors (age interaction)	3.000000e-06
GCST005348_176	Total body bone mineral density	4.000000e-08
GCST007576_277	Chronotype	2.000000e-11
GCST010988_431	Adult body size	8.000000e-09
GCST012117_1	Rheumatic heart disease	4.000000e-08
GCST90011899_5	Aspartate aminotransferase levels	1.000000e-11

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004207	pathological myopia
EFO:0004530	triglyceride measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0008007	age at assessment
EFO:0008328	chronotype measurement
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
potassium chromate(VI)	affects cotreatment, decreases expression	2
epigallocatechin gallate	affects cotreatment, decreases expression	1
cyanoginosin LR	increases expression	1
chromium hexavalent ion	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
incobotulinumtoxinA	decreases expression	1
Ethanol	decreases expression	1
Mercuric Chloride	decreases expression	1
Silicon Dioxide	increases expression	1
Thimerosal	decreases expression	1
Aflatoxin B1	increases methylation	1
2-Propanol	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.