CASP8AP2

caspase 8 associated protein 2

Basic information

Region (hg38): 6:89829894-89874436

Links

ENSG00000118412NCBI:9994OMIM:606880HGNC:1510Uniprot:Q9UKL3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CASP8AP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CASP8AP2 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
0
missense
137
clinvar
12
clinvar
149
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 137 12 0

Variants in CASP8AP2

This is a list of pathogenic ClinVar variants found in the CASP8AP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
6-89846609-A-G not specified Uncertain significance (Feb 27, 2023)2490048
6-89853166-C-G not specified Uncertain significance (Jan 20, 2023)2461570
6-89853193-G-C not specified Uncertain significance (Jan 16, 2024)3137657
6-89854909-T-C not specified Uncertain significance (Apr 22, 2022)2389066
6-89862185-T-C not specified Uncertain significance (Nov 09, 2024)3485264
6-89862199-C-T not specified Uncertain significance (Nov 25, 2024)3485229
6-89862212-C-A not specified Uncertain significance (Jan 21, 2025)3827570
6-89862226-G-A not specified Uncertain significance (Jun 13, 2024)3263458
6-89862256-A-T not specified Uncertain significance (Feb 26, 2025)3827587
6-89862260-A-T not specified Uncertain significance (Mar 07, 2025)3827565
6-89862277-C-T not specified Uncertain significance (Nov 25, 2024)3485268
6-89862395-G-T not specified Uncertain significance (Mar 27, 2023)2529895
6-89862418-G-C not specified Uncertain significance (Feb 20, 2025)3827567
6-89862454-G-T not specified Uncertain significance (Jul 22, 2024)3485230
6-89862467-G-A not specified Uncertain significance (Feb 09, 2023)2482549
6-89862479-G-C not specified Uncertain significance (Feb 12, 2024)3137656
6-89862521-G-A not specified Uncertain significance (Aug 04, 2023)2591611
6-89862581-A-G not specified Uncertain significance (Feb 06, 2024)3137658
6-89862601-A-T not specified Uncertain significance (Jan 23, 2025)3827582
6-89862686-C-A not specified Uncertain significance (Apr 20, 2023)2510023
6-89862703-C-T not specified Uncertain significance (Mar 14, 2023)2496402
6-89862715-G-C not specified Uncertain significance (Sep 24, 2024)3485244
6-89862826-A-C not specified Uncertain significance (Nov 22, 2024)3485235
6-89862877-C-T not specified Uncertain significance (Aug 20, 2024)3485252
6-89863036-C-A not specified Uncertain significance (Jan 16, 2025)3827577

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: Participates in TNF-alpha-induced blockade of glucocorticoid receptor (GR) transactivation at the nuclear receptor coactivator level, upstream and independently of NF- kappa-B. Suppresses both NCOA2- and NCOA3-induced enhancement of GR transactivation. Involved in TNF-alpha-induced activation of NF-kappa-B via a TRAF2-dependent pathway. Acts as a downstream mediator for CASP8-induced activation of NF-kappa-B. Required for the activation of CASP8 in FAS-mediated apoptosis. Required for histone gene transcription and progression through S phase. {ECO:0000269|PubMed:12477726, ECO:0000269|PubMed:15698540, ECO:0000269|PubMed:17003125, ECO:0000269|PubMed:17245429}.;

Recessive Scores

pRec
0.151

Haploinsufficiency Scores

pHI
0.121
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred
E
gene_indispensability_score
0.549

Mouse Genome Informatics

Gene name
Casp8ap2
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);

Gene ontology

Biological process
activation of cysteine-type endopeptidase activity involved in apoptotic process;cell cycle;signal transduction;extrinsic apoptotic signaling pathway via death domain receptors;Fas signaling pathway;cellular response to mechanical stimulus;apoptotic signaling pathway;negative regulation of nucleic acid-templated transcription
Cellular component
nucleus;nucleoplasm;cytoplasm;mitochondrion;PML body
Molecular function
DNA binding;transcription corepressor activity;death receptor binding;protein binding;cysteine-type endopeptidase activator activity involved in apoptotic process;peptidase activator activity involved in apoptotic process;SUMO polymer binding