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  2. CASP8AP2 - caspase 8 associated protein 2 Gene

CASP8AP2 - caspase 8 associated protein 2 Gene

Homo sapiens

Also known as CED-4; FLASH; RIP25

Gene ID: 9994 | Gene type: protein coding

About CASP8AP2

Cytogenetic location: 6q15 Genomic coordinates (GRCh38): 6:89,829,880-89,874,436 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele and 203 orthologues. Ubiquitous expression in lymph node (RPKM 5.6), testis (RPKM 4.6) and 25 other tissues.

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]

CASP8AP2 Products(3)

mRNA Protein Name
NM_001137667.2 NP_001131139.1 CASP8-associated protein 2
NM_001137668.2 NP_001131140.1 CASP8-associated protein 2
NM_012115.4 NP_036247.1 CASP8-associated protein 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables SUMO polymer binding IDA
IDA: Inferred from direct assay
23086935 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12477726 GOA
enables transcription corepressor activity IDA
IDA: Inferred from direct assay
12477726 GOA
Biological Process GO Annotation Evidence Reference Source
involved in Fas signaling pathway IMP
IMP: Inferred from mutant phenotype
17245429 GOA
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process IMP
IMP: Inferred from mutant phenotype
17245429 GOA
involved in cellular response to mechanical stimulus IEP
IEP: Inferred from expression pattern
19593445 GOA
involved in extrinsic apoptotic signaling pathway via death domain receptors IMP
IMP: Inferred from mutant phenotype
17245429 GOA
Cellular Component GO Annotation Evidence Reference Source
located in PML body IDA
IDA: Inferred from direct assay
17245429 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
12477726 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
17245429 GOA
located in nucleus IDA
IDA: Inferred from direct assay
12477726 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

CASP8-associated protein 2

FLASH homolog RIP25

Related Diseases

Diseases Alias
Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type

Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16

Atr Syndrome Linked To Chromosome 16

Atr Syndrome, Deletion Type

Atr-16 Syndrome

Alpha Thalassemia-Retardation Syndrome

Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type

Alpha-Thalassemia/Mental Retardation Syndrome, Type 1

Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus CASP8AP2 VGNC VGNC:26785
Rattus norvegicus CASP8AP2 RGD RGD:1305771
Felis catus CASP8AP2 VGNC VGNC:60385
Macaca mulatta CASP8AP2 VGNC VGNC:70548
Canis familiaris CASP8AP2 VGNC VGNC:38737
Mus musculus CASP8AP2 MGD MGI:1349399