BLID BH3-like motif containing, cell death inducer [Homo sapiens (human)] - Gene

Summary

Official Symbol: BLIDprovided by HGNC
Official Full Name: BH3-like motif containing, cell death inducerprovided by HGNC
Primary source: HGNC:HGNC:33495
See related: Ensembl:ENSG00000259571 MIM:608853; AllianceGenome:HGNC:33495
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BRCC2
Summary: 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. [provided by RefSeq, Aug 2011]
Orthologs: all
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Genomic context

Location:: 11q24.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (122115340..122116215, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (122144347..122145222, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (121986048..121986923, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MiR-501 knockdown or BH3-like motif-containing protein, cell death inducer (BLID) overexpression could reverse the effects of ADR Exo on recipient cells.
Title: Exosomal transfer of miR-501 confers doxorubicin resistance and tumorigenesis via targeting of BLID in gastric cancer.
loss of BLID may contribute to the progression of intraductal proliferation lesions to breast cancer.
Title: Aberrant BLID expression is associated with breast cancer progression.
BRCC2 functions as a novel tumor suppressor in breast cancer and may be a potential therapeutic target for breast cancer management.
Title: BRCC2 inhibits breast cancer cell growth and metastasis in vitro and in vivo via downregulating AKT pathway.
Frequent loss of the BLID gene is observed in early-onset breast cancer.
Title: Frequent loss of the BLID gene in early-onset breast cancer.
Tag single nucleotide polymorphisms near the BLID and LOC399959 genes are not susceptibility loci for high myopia in the Chinese Han population.
Title: Evaluation of BLID and LOC399959 as candidate genes for high myopia in the Chinese Han population.
BLID upregulation resulting from a novel IGH translocation is associated with childhood B-Cell precursor acute lymphoblastic leukemia.
Title: MicroRNA-125b-1 and BLID upregulation resulting from a novel IGH translocation in childhood B-Cell precursor acute lymphoblastic leukemia.
BLID is a new binding partner of Bcl-X(L) and a significant prognostic factor in breast cancer
Title: The proapoptotic molecule BLID interacts with Bcl-XL and its downregulation in breast cancer correlates with poor disease-free and overall survival.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1.
BLID gene is assigned to 11p24.1.
Title: Assignment of the BLID gene to 11q24.1 by fluorescence in situ hybridization.
BRCC2 is a novel BH3-like domain-containing protein which induces apoptosis in a caspase-dependent manner
Title: BRCC2, a novel BH3-like domain-containing protein, induces apoptosis in a caspase-dependent manner.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cysteine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
located_in mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: BH3-like motif-containing cell death inducer

Names: breast cancer cell 2; breast cancer cell protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.