BIRC2
baculoviral IAP repeat containing 2, the group of Baculoviral IAP repeat containing|Caspase recruitment domain containing|Ring finger proteins
Basic information
Region (hg38): 11:102347211-102378670
Previous symbols: [ "API1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BIRC2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 33 | 36 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 33 | 3 | 1 |
Variants in BIRC2
This is a list of pathogenic ClinVar variants found in the BIRC2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 11-102349894-T-G | not specified | Uncertain significance (Jan 26, 2023) | ||
| 11-102349895-C-T | not specified | Uncertain significance (Nov 12, 2021) | ||
| 11-102349931-C-T | not specified | Uncertain significance (Oct 05, 2021) | ||
| 11-102349964-A-C | not specified | Uncertain significance (Dec 15, 2023) | ||
| 11-102350017-A-C | not specified | Uncertain significance (Oct 20, 2023) | ||
| 11-102350017-A-G | not specified | Likely benign (May 23, 2023) | ||
| 11-102350026-G-T | not specified | Uncertain significance (May 30, 2024) | ||
| 11-102350108-G-T | not specified | Uncertain significance (Jun 22, 2024) | ||
| 11-102350197-A-C | not specified | Uncertain significance (Oct 26, 2022) | ||
| 11-102350233-A-T | not specified | Uncertain significance (Jan 07, 2022) | ||
| 11-102350271-A-G | Likely benign (Jul 01, 2022) | |||
| 11-102350271-A-T | not specified | Uncertain significance (Dec 12, 2023) | ||
| 11-102350279-C-T | not specified | Uncertain significance (Nov 14, 2023) | ||
| 11-102350357-A-G | not specified | Uncertain significance (Jun 09, 2022) | ||
| 11-102350384-A-G | not specified | Uncertain significance (May 15, 2024) | ||
| 11-102350396-T-C | not specified | Uncertain significance (Jun 03, 2022) | ||
| 11-102350410-G-A | not specified | Uncertain significance (Sep 12, 2023) | ||
| 11-102350440-T-G | not specified | Uncertain significance (Nov 23, 2021) | ||
| 11-102350554-G-C | not specified | Uncertain significance (Sep 28, 2022) | ||
| 11-102350558-A-T | not specified | Uncertain significance (Oct 03, 2022) | ||
| 11-102350576-G-A | not specified | Uncertain significance (Jul 21, 2021) | ||
| 11-102350587-C-G | not specified | Uncertain significance (Mar 11, 2024) | ||
| 11-102350704-C-T | not specified | Uncertain significance (Mar 25, 2024) | ||
| 11-102350846-C-T | not specified | Uncertain significance (Nov 17, 2023) | ||
| 11-102362912-C-G | not specified | Uncertain significance (Nov 18, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BIRC2 | protein_coding | protein_coding | ENST00000227758 | 8 | 31460 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.427 | 0.573 | 125676 | 0 | 65 | 125741 | 0.000258 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.177 | 310 | 319 | 0.972 | 0.0000151 | 4087 |
| Missense in Polyphen | 52 | 99.599 | 0.52209 | 1311 | ||
| Synonymous | -1.92 | 138 | 112 | 1.23 | 0.00000555 | 1135 |
| Loss of Function | 3.77 | 6 | 27.2 | 0.220 | 0.00000142 | 355 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000155 | 0.000152 |
| Ashkenazi Jewish | 0.0000993 | 0.0000992 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00159 | 0.00157 |
| European (Non-Finnish) | 0.000237 | 0.000229 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, mitogenic kinase signaling, and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin- protein ligase regulating NF-kappa-B signaling and regulates both canonical and non-canonical NF-kappa-B signaling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signaling. The target proteins for its E3 ubiquitin- protein ligase activity include: RIPK1, RIPK2, RIPK3, RIPK4, CASP3, CASP7, CASP8, TRAF2, DIABLO/SMAC, MAP3K14/NIK, MAP3K5/ASK1, IKBKG/NEMO, IKBKE and MXD1/MAD1. Can also function as an E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway, targeting effector caspases for neddylation and inactivation. Acts as an important regulator of innate immune signaling via regulation of Toll-like receptors (TLRs), Nodlike receptors (NLRs) and RIG-I like receptors (RLRs), collectively referred to as pattern recognition receptors (PRRs). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase- dependent and caspase-independent manner. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8. Can stimulate the transcriptional activity of E2F1. Plays a role in the modulation of the cell cycle. {ECO:0000269|PubMed:15665297, ECO:0000269|PubMed:18082613, ECO:0000269|PubMed:21145488, ECO:0000269|PubMed:21653699, ECO:0000269|PubMed:21931591, ECO:0000269|PubMed:23453969}.;
- Pathway
- Focal adhesion - Homo sapiens (human);Small cell lung cancer - Homo sapiens (human);Apoptosis - multiple species - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);Necroptosis - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Apoptosis - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);Busulfan Pathway, Pharmacodynamics;Apoptosis Modulation and Signaling;TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway;TNF alpha Signaling Pathway;Apoptosis;Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway;Focal Adhesion;Photodynamic therapy-induced NF-kB survival signaling;Apoptotic Signaling Pathway;TWEAK;Signal Transduction;caspase cascade in apoptosis;role of mitochondria in apoptotic signaling;hiv-1 nef: negative effector of fas and tnf;keratinocyte differentiation;TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway;TNFR2 non-canonical NF-kB pathway;Cytokine Signaling in Immune system;TICAM1, RIP1-mediated IKK complex recruitment ;Toll Like Receptor 3 (TLR3) Cascade;Toll-Like Receptors Cascades;NOD1/2 Signaling Pathway;Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways;Post-translational protein modification;Metabolism of proteins;Apoptotic cleavage of cellular proteins;Innate Immune System;Immune System;Apoptotic execution phase;Apoptosis;Regulated Necrosis;Programmed Cell Death;RIPK1-mediated regulated necrosis;TNFR1-induced NFkappaB signaling pathway;TNF signaling;Ub-specific processing proteases;Deubiquitination;Death Receptor Signalling;Regulation of TNFR1 signaling;TNFalpha;IKK complex recruitment mediated by RIP1;TRIF(TICAM1)-mediated TLR4 signaling ;MyD88-independent TLR4 cascade ;Toll Like Receptor 4 (TLR4) Cascade;Canonical NF-kappaB pathway;CD40/CD40L signaling;TNF receptor signaling pathway ;p75(NTR)-mediated signaling;FAS (CD95) signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.297
Intolerance Scores
- loftool
- 0.410
- rvis_EVS
- -0.25
- rvis_percentile_EVS
- 36.07
Haploinsufficiency Scores
- pHI
- 0.130
- hipred
- Y
- hipred_score
- 0.735
- ghis
- 0.563
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.928
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Birc2
- Phenotype
- growth/size/body region phenotype; homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); immune system phenotype;
Zebrafish Information Network
- Gene name
- birc2
- Affected structure
- endothelial cell
- Phenotype tag
- abnormal
- Phenotype quality
- apoptotic
Gene ontology
- Biological process
- protein polyubiquitination;response to hypoxia;placenta development;apoptotic process;cell surface receptor signaling pathway;I-kappaB kinase/NF-kappaB signaling;regulation of tumor necrosis factor-mediated signaling pathway;protein deubiquitination;tumor necrosis factor-mediated signaling pathway;regulation of toll-like receptor signaling pathway;NIK/NF-kappaB signaling;regulation of RIG-I signaling pathway;regulation of cell population proliferation;regulation of apoptotic process;negative regulation of apoptotic process;positive regulation of I-kappaB kinase/NF-kappaB signaling;proteasome-mediated ubiquitin-dependent protein catabolic process;regulation of innate immune response;response to ethanol;regulation of cell differentiation;regulation of inflammatory response;protein heterooligomerization;response to cAMP;regulation of cell cycle;regulation of necroptotic process;negative regulation of necroptotic process;necroptotic process;regulation of nucleotide-binding oligomerization domain containing signaling pathway;regulation of NIK/NF-kappaB signaling;negative regulation of ripoptosome assembly involved in necroptotic process;positive regulation of protein K63-linked ubiquitination;positive regulation of protein K48-linked ubiquitination;positive regulation of protein monoubiquitination;positive regulation of nucleic acid-templated transcription;inhibition of cysteine-type endopeptidase activity involved in apoptotic process;regulation of cysteine-type endopeptidase activity;regulation of reactive oxygen species metabolic process
- Cellular component
- XY body;nucleus;cytoplasm;cytosol;cytoplasmic side of plasma membrane;CD40 receptor complex;membrane raft
- Molecular function
- transcription coactivator activity;ubiquitin-protein transferase activity;protein binding;zinc ion binding;transferase activity;identical protein binding;cysteine-type endopeptidase inhibitor activity involved in apoptotic process;ubiquitin binding;protein N-terminus binding;chaperone binding;ubiquitin protein ligase activity;FBXO family protein binding