CASP8AP2 caspase 8 associated protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CASP8AP2provided by HGNC
Official Full Name: caspase 8 associated protein 2provided by HGNC
Primary source: HGNC:HGNC:1510
See related: Ensembl:ENSG00000118412 MIM:606880; AllianceGenome:HGNC:1510
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CED-4; FLASH; RIP25
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]
Annotation information: Annotation category: suggests misassembly; Annotation category: partial on reference assembly
Expression: Ubiquitous expression in lymph node (RPKM 5.6), testis (RPKM 4.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q15

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (89829880..89874436)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (91029094..91086157)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (90539599..90584155)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interaction of E2F3a and CASP8AP2 Regulates Histone Expression and Chemosensitivity of Leukemic Cells.
Title: Interaction of E2F3a and CASP8AP2 Regulates Histone Expression and Chemosensitivity of Leukemic Cells.
CRISPRi screening identifies CASP8AP2 as an essential viability factor in lung cancer controlling tumor cell death via the AP-1 pathway.
Title: CRISPRi screening identifies CASP8AP2 as an essential viability factor in lung cancer controlling tumor cell death via the AP-1 pathway.
Interaction between CASP8AP2 and ZEB2-CtBP2 Regulates the Expression of LEF1.
Title: Interaction between CASP8AP2 and ZEB2-CtBP2 Regulates the Expression of LEF1.
Knockout of the caspase 8-associated protein 2 gene improves recombinant protein expression in HEK293 cells through up-regulation of the cyclin-dependent kinase inhibitor 2A gene.
Title: Knockout of the caspase 8-associated protein 2 gene improves recombinant protein expression in HEK293 cells through up-regulation of the cyclin-dependent kinase inhibitor 2A gene.
Low expression of CTBP2 and CASP8AP2 predicts risk of relapse in childhood B-cell precursor acute lymphoblastic leukemia: a retrospective cohort study.
Title: Low expression of CTBP2 and CASP8AP2 predicts risk of relapse in childhood B-cell precursor acute lymphoblastic leukemia: a retrospective cohort study.
Structural Analysis of the SANT/Myb Domain of FLASH and YARP Proteins and Their Complex with the C-Terminal Fragment of NPAT by NMR Spectroscopy and Computer Simulations.
Title: Structural Analysis of the SANT/Myb Domain of FLASH and YARP Proteins and Their Complex with the C-Terminal Fragment of NPAT by NMR Spectroscopy and Computer Simulations.
Here, we assembled core U7 snRNP bound to FLASH from recombinant components and analyzed its appearance by electron microscopy and ability to support histone pre-mRNA processing in the presence of polyadenylation factors from nuclear extracts
Title: Composition and processing activity of a semi-recombinant holo U7 snRNP.
FLASH plays two roles in 3' end processing of histone pre-mRNAs: It interacts with Lsm11 to form a docking platform for the polyadenylation factors, and it cooperates with SLBP to recruit U7 snRNP to histone pre-mRNA.
Title: U7 snRNP is recruited to histone pre-mRNA in a FLASH-dependent manner by two separate regions of the stem-loop binding protein.
FLASH is required for embryogenesis, but not for cell proliferation or differentiation in embryonic stem cells.
Title: FLASH/casp8ap2 is indispensable for early embryogenesis but dispensable for proliferation and differentiation of ES cells.
Our results indicate that the APAF1, BAX, and FLASH genes not only harbor frameshift mutations but also demonstrate mutational ITH, which together might play a role in the tumorigenesis of CRC with MSI-H by affecting the apoptosis of cancer cells.
Title: Regional Bias of Intratumoral Genetic Heterogeneity of Apoptosis-Related Genes BAX, APAF1, and FLASH in Colon Cancers with High Microsatellite Instability.

Submit: New GeneRIF Correction See all GeneRIFs (41)

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of caspase 8 associated protein 2 (CASP8AP2) in human B cells	PubMed
Vpr	vpr	Overexpression of CASP8AP2 is induced by HIV-1 Vpr in the transfected 293T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47433 (e-PCR)
- UniSTS:49695

NoName (e-PCR)
- UniSTS:483950

SHGC-52865 (e-PCR)
- UniSTS:38874

STS-H50583 (e-PCR)
- UniSTS:2284

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SUMO polymer binding	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type endopeptidase activator activity involved in apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
enables death receptor binding	TAS Traceable Author Statement more info	PubMed
enables peptidase activator activity involved in apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Fas signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in Fas signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in extrinsic apoptotic signaling pathway via death domain receptors	IBA Inferred from Biological aspect of Ancestor more info
involved_in extrinsic apoptotic signaling pathway via death domain receptors	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extrinsic apoptotic signaling pathway via death domain receptors	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cysteine-type endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in PML body	IBA Inferred from Biological aspect of Ancestor more info
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: CASP8-associated protein 2

Names: FLASH homolog RIP25; FLICE associated huge; FLICE-associated huge protein; human FLASH

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.

mRNA and Protein(s)

NM_001137667.2 → NP_001131139.1 CASP8-associated protein 2

See identical proteins and their annotated locations for NP_001131139.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1.

Source sequence(s)

AF164678, AL353692, BC132828

UniProtKB/Swiss-Prot

A2RUB7, E1P553, Q6PH76, Q7LCQ7, Q86YD9, Q9NUQ4, Q9NZV9, Q9P2N1, Q9UKL3, Q9Y563

UniProtKB/TrEMBL

A7E2C0

Conserved Domains (1) summary

cd12202
Location:1916 → 1980

CASP8AP2; Caspase 8-associated protein 2 myb-like domain
NM_001137668.2 → NP_001131140.1 CASP8-associated protein 2

See identical proteins and their annotated locations for NP_001131140.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1.

Source sequence(s)

AF154415, AF164678, AL353692

UniProtKB/Swiss-Prot

A2RUB7, E1P553, Q6PH76, Q7LCQ7, Q86YD9, Q9NUQ4, Q9NZV9, Q9P2N1, Q9UKL3, Q9Y563

UniProtKB/TrEMBL

A7E2C0

Conserved Domains (1) summary

cd12202
Location:1916 → 1980

CASP8AP2; Caspase 8-associated protein 2 myb-like domain
NM_012115.4 → NP_036247.1 CASP8-associated protein 2

See identical proteins and their annotated locations for NP_036247.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript.

Source sequence(s)

AF154415, AF164678, AL353692

UniProtKB/Swiss-Prot

A2RUB7, E1P553, Q6PH76, Q7LCQ7, Q86YD9, Q9NUQ4, Q9NZV9, Q9P2N1, Q9UKL3, Q9Y563

UniProtKB/TrEMBL

A7E2C0

Related

ENSP00000478179.2, ENST00000551025.4

Conserved Domains (1) summary

cd12202
Location:1916 → 1980

CASP8AP2; Caspase 8-associated protein 2 myb-like domain