BIRC8 baculoviral IAP repeat containing 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BIRC8provided by HGNC
Official Full Name: baculoviral IAP repeat containing 8provided by HGNC
Primary source: HGNC:HGNC:14878
See related: Ensembl:ENSG00000293247 AllianceGenome:HGNC:14878
Gene type: pseudo
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ILP2; ILP-2; hILP2; RNF136
Summary: Predicted to enable cysteine-type endopeptidase inhibitor activity involved in apoptotic process and ubiquitin protein ligase activity. Predicted to be involved in several processes, including negative regulation of apoptotic process; positive regulation of canonical Wnt signaling pathway; and positive regulation of protein ubiquitination. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: all
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Genomic context

Location:: 19q13.42

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (53289601..53291434, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (56369089..56370922, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (53792854..53794687, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High ILP-2 expression is associated with breast cancer.
Title: Inhibitor of apoptosis protein‑like protein‑2: A novel growth accelerator for breast cancer cells.
Fumonisin B1 caused dose-dependent increase in BIRC-8/ILP-2 mRNA and protein expression in HepG2 cells to inhibit apoptosis.
Title: Fumonisin B₁ inhibits apoptosis in HepG2 cells by inducing Birc-8/ILP-2.
results indicate that ILP-2 is a novel breast cancer biomarker in the peripheral blood.
Title: Inhibitor of apoptosis protein-like protein-2 as a novel serological biomarker for breast cancer.
increased expression with progression of chronic myeloid leukaemia
Title: Differential expression of BIRC family genes in chronic myeloid leukaemia--BIRC3 and BIRC8 as potential new candidates to identify disease progression.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
ILP2 is an unstable protein, and cannot inhibit caspase 9 in a physiological way on its own; possibly ILP2 requires assistance from unidentified cellular factors to be an effective inhibitor of apoptosis in vivo
Title: The BIR domain of IAP-like protein 2 is conformationally unstable: implications for caspase inhibition.
role in preventing shear-stress induced endothelial cell apoptosis via negative regulation of caspase-3
Title: Induction of human inhibitor of apoptosis protein-2 by shear stress in endothelial cells.

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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

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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Markers

PMC87089P1 (e-PCR)
- UniSTS:273575

PMC87089P2 (e-PCR)
- UniSTS:273576

Other Names

IAP-like protein 2
baculoviral IAP repeat-containing protein 8
inhibitor of apoptosis-like protein 2
testis-specific inhibitor of apoptosis

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell cycle	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

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.