CASP8AP2

protein-coding

caspase 8 associated protein 2

Gene summary

This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:137B:12

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr6:89,829,894-89,874,436

External References & Databases

Ensembl (ENSG00000118412)

Transcript & Mutation Effects

hg38 • Region Span ~44.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CASP8AP2 variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	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	149

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001137667.2	RefSeq	NP_001131139.1	9	Standard
NM_001137668.2	RefSeq	NP_001131140.1	9	Standard
NM_012115.4	RefSeq	NP_036247.1	9	Standard
ENST00000419040.6	Ensembl	ENSP00000485349.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

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

Molecular Function

DNA binding
transcription corepressor activity
death receptor binding
protein binding
cysteine-type endopeptidase activator activity involved in apoptotic process

Cellular Component

nucleus
nucleoplasm
cytoplasm
mitochondrion
PML body

dbNSFP Gene Annotations

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

Essentials

Indispensability pred.: E
Indispensability score: 0.549