CASP2 caspase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CASP2provided by HGNC
Official Full Name: caspase 2provided by HGNC
Primary source: HGNC:HGNC:1503
See related: Ensembl:ENSG00000106144 MIM:600639; AllianceGenome:HGNC:1503
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ICH1; MRT80; NEDD2; CASP-2; NEDD-2; PPP1R57
Summary: This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer's disease, Huntington's disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Expression: Ubiquitous expression in bone marrow (RPKM 14.7), lymph node (RPKM 11.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q34

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (143288351..143307696)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (144643759..144663112)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (142985444..143004789)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Apoptotic endonuclease EndoG induces alternative splicing of Caspase-2.
Title: Apoptotic endonuclease EndoG induces alternative splicing of Caspase-2.
Caspase-2 protects against ferroptotic cell death.
Title: Caspase-2 protects against ferroptotic cell death.
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
Title: Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
Triglyceride induces DNA damage leading to monocyte death by activating caspase-2 and caspase-8.
Title: Triglyceride induces DNA damage leading to monocyte death by activating caspase-2 and caspase-8.
Dual truncation of tau by caspase-2 accelerates its CHIP-mediated degradation.
Title: Dual truncation of tau by caspase-2 accelerates its CHIP-mediated degradation.
Targeting caspase-2 interactions with tau in Alzheimer's disease and related dementias.
Title: Targeting caspase-2 interactions with tau in Alzheimer's disease and related dementias.
Genuine selective caspase-2 inhibition with new irreversible small peptidomimetics.
Title: Genuine selective caspase-2 inhibition with new irreversible small peptidomimetics.
Caspase-2 mRNA levels are not elevated in mild cognitive impairment, Alzheimer's disease, Huntington's disease, or Lewy Body dementia.
Title: Caspase-2 mRNA levels are not elevated in mild cognitive impairment, Alzheimer's disease, Huntington's disease, or Lewy Body dementia.
miR-150-3p enhances neuroprotective effects of neural stem cell exosomes after hypoxic-ischemic brain injury by targeting CASP2.
Title: miR-150-3p enhances neuroprotective effects of neural stem cell exosomes after hypoxic-ischemic brain injury by targeting CASP2.
Caspase-2 as a master regulator of genomic stability.
Title: Caspase-2 as a master regulator of genomic stability.

Submit: New GeneRIF Correction See all GeneRIFs (117)

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

Associated conditions

Description	Tests
Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly MedGen: C5882733 OMIM: 620653 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102216 (e-PCR)
- UniSTS:96550

A004G42 (e-PCR)
- UniSTS:63015

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

CASP2 (e-PCR)
- UniSTS:479808

Casp2 (e-PCR), detects polymorphism
- UniSTS:259199

NEDD2 (e-PCR)
- UniSTS:75169

WI-19013 (e-PCR)
- UniSTS:47275

WI-9353 (e-PCR)
- UniSTS:2543

RH12751 (e-PCR)
- UniSTS:7922

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type endopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables enzyme binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic process	NAS Non-traceable Author Statement 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 ectopic germ cell programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in execution phase of apoptosis	TAS Traceable Author Statement more info	PubMed
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	TAS Traceable Author Statement more info	PubMed
involved_in luteolysis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in neural retina development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein processing	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
part_of endopeptidase complex	IPI Inferred from Physical Interaction more info	PubMed
located_in nucleolus	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: caspase-2

Names: caspase 2 apoptosis-related cysteine peptidase; neural precursor cell expressed developmentally down-regulated protein 2; protease ICH-1; protein phosphatase 1, regulatory subunit 57

NP_001215.1

EC 3.4.22.55

NP_116764.2

EC 3.4.22.55

NP_116765.2

EC 3.4.22.55

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.

Genomic

NG_029248.1 RefSeqGene

Range

5137..24482

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001224.5 → NP_001215.1 caspase-2 isoform 2

See identical proteins and their annotated locations for NP_001215.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternative 5' terminal exon (resulting in translation initiation from an in-frame downstream AUG), and an additional internal exon compared to variant 1. The latter causes a frame-shift, and early translation termination, rendering this transcript a candidate for nonsense-mediated mRNA decay (NMD). However, this variant is represented as protein-coding as the encoded short isoform (2, also known as ICH-1S) has been shown to be expressed in vivo (PMID:12598307), and to function as a negative regulator of apoptosis (PMID:8087842).

Source sequence(s)

AC073342, BC002427, BQ447606, U13022

Conserved Domains (2) summary

cl00042
Location:161 → 296

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...

cl14633
Location:1 → 87

DD; Death Domain Superfamily of protein-protein interaction domains
NM_032982.4 → NP_116764.2 caspase-2 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_116764.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1, also known as ICH-1L), which has been shown to function as a positive regulator of apoptosis (PMID:8087842).

Source sequence(s)

AC073342, AK291274, BQ447606, DB455837

Consensus CDS

CCDS5879.1

UniProtKB/Swiss-Prot

A8K5F9, D3DXD6, E9PDN0, P42575, P42576, Q59F21, Q7KZL6, Q86UJ3, Q9BUP7, Q9BZK9, Q9BZL0

UniProtKB/TrEMBL

A0A0S2Z3H1

Related

ENSP00000312664.5, ENST00000310447.10

Conserved Domains (2) summary

smart00115
Location:192 → 447

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues

cd08332
Location:32 → 118

CARD_CASP2; Caspase activation and recruitment domain of Caspase-2
NM_032983.4 → NP_116765.2 caspase-2 isoform 3

See identical proteins and their annotated locations for NP_116765.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an exon and uses an alternate splice site in the coding region, which results in a frameshift and early stop codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC073342, AF314174, BC002427, BQ447606, DB455840

Consensus CDS

CCDS47733.1

UniProtKB/TrEMBL

A0A087WYM1

Related

ENSP00000481929.1, ENST00000619992.4

Conserved Domains (1) summary

cl14633
Location:32 → 108

DD; Death Domain Superfamily of protein-protein interaction domains

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

143288351..143307696

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

144643759..144663112

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_032984.2: Suppressed sequence

Description

NM_032984.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.