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

Gene ID: 9994, updated on 22-Mar-2020

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
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: partial on reference assembly
Expression
Ubiquitous expression in lymph node (RPKM 5.6), testis (RPKM 4.6) and 25 other tissues See more
Orthologs

Genomic context

See CASP8AP2 in Genome Data Viewer
Location:
6q15
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (89829880..89874436)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (90539619..90584155)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene midasin AAA ATPase 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 pseudogene 6 Neighboring gene PIMREG pseudogene 3 Neighboring gene ribosomal protein L22 pseudogene 14 Neighboring gene G protein pathway suppressor 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11208, KIAA1315

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
CASP8-associated protein 2
Names
FLASH homolog RIP25
FLICE associated huge
FLICE-associated huge protein
human FLASH

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001137667.2NP_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
    Q9UKL3
    Conserved Domains (1) summary
    cd12202
    Location:19161980
    CASP8AP2; Caspase 8-associated protein 2 myb-like domain
  2. NM_001137668.2NP_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
    Q9UKL3
    Conserved Domains (1) summary
    cd12202
    Location:19161980
    CASP8AP2; Caspase 8-associated protein 2 myb-like domain
  3. NM_012115.4NP_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
    Q9UKL3
    Related
    ENSP00000478179.1, ENST00000551025.3
    Conserved Domains (1) summary
    cd12202
    Location:19161980
    CASP8AP2; Caspase 8-associated protein 2 myb-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    89829880..89874436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_017363815.1 Reference GRCh38.p13 PATCHES

    Range
    25225..72124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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