CASP8AP2

caspase 8 associated protein 2

Basic information

Region (hg38): 6:89829894-89874436

Links

ENSG00000118412

∙ NCBI:9994 ∙ OMIM:606880 ∙ HGNC:1510 ∙ Uniprot:Q9UKL3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			137 clinvar	12 clinvar		149
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	137	12	0

Loading clinvar variants...

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