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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CASP4 Gene

protein-coding GIFtS: 65
GCID: GC11M104806

caspase 4, apoptosis-related cysteine peptidase

(Previous names: caspase 4, apoptosis-related cysteine protease )

Explore 51 diseases affiliated with
CASP4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Caspase 4, Apoptosis-Related Cysteine Peptidase¹ ²		ICE(Rel)-II¹
ICE(Rel)II¹		ICEREL-II²
ICH-2¹ ²		Mih1/TX²
TX¹ ²		Apoptotic Cysteine Protease Mih1/TX²
Caspase 4, Apoptosis-Related Cysteine Protease¹ ²		Caspase-4¹
Protease ICH-2² ³		EC 3.4.22.57³
Protease TX² ³		ICH2³
CASP-4² ³		EC 3.4.22⁸

External Ids:	HGNC: 1505¹	Entrez Gene: 837²	Ensembl: ENSG00000196954⁷	OMIM: 602664⁵	UniProtKB: P49662³

Export aliases for CASP4 gene to outside databases

Previous GC identifers: GC11M107006 GC11M106170 GC11M104351 GC11M104318 GC11M100744

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CASP4:

This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential

activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive

proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic

processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and

small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor.

When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding

distinct isoforms. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CASP4_HUMAN, P49662

Function: Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves caspase-1

summary for CASP4:

Caspases (short for 'cysteinyl aspartate proteases') are involved in the signal transduction pathways of

apoptosis, necrosis and inflammation. These enzymes can be divided into two major classes - initiators and

effectors. The initiator isoforms (caspases-1,-4,-5,-8,-9,-10,-11,-12) are activated by, and interact with,

upstream adaptor molecules through protein-protein interaction domains known as CARD and DED. Effector

caspases (-3,-6,-7) are responsible for cleaving downstream substrates and are sometimes referred to as the

executioner caspases. More than 400 caspase substrates have so far been identified (see The Caspase

Substrate Database). Initiator caspases, such as caspase 8, may be directly activated by death receptors

such as FasR. Caspases can also be found intracellularly as part of large multiprotein complexes. For

example, caspase 9 is recruited to the apoptosome formed during apoptosis, whilst caspases-1 and 5 can form

part of the inflammasome, a key part of cytokine processing during inflammation. Caspases are regulated by

inhibitors of apoptosis and by dominant negative isoforms. They have been implicated in the pathogenesis of

many disorders including stroke, Alzheimer's disease, myocardial infarction, cancer, and inflammatory

disease.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CASP4 gene promoter:
TBP
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CASP4 promoter sequence

Search SABiosciences Chromatin IP Primers for CASP4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASP4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q22.2-q22.3 Ensembl cytogenetic band: 11q22.3 HGNC cytogenetic band: 11q22.2-q22.3

CASP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASP4 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M104806: view genomic region (about GC identifiers)

Start:	104,813,593 bp from pter	End:	104,840,163 bp from pter
Size:	26,571 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CASP4_HUMAN, P49662 (See protein sequence)

Recommended Name: Caspase-4 precursor

Size: 377 amino acids; 43262 Da

Subunit: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a small and a

large subunit (By similarity)

Secondary accessions: A2NHL8 A2NHM0

Alternative splicing: 2 isoforms: P49662-1 P49662-2

Explore the universe of human proteins at neXtProt for CASP4: NX_P49662

Post-translational modifications:

The two subunits are derived from the precursor sequence by an autocatalytic mechanism or by cleavage by Caspase-8¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P49662

4/10 DME Specific Peptides for CASP4 (P49662) (see all 10)

EIYPIKE

QMPTIER

SDSTFLV

DKPKVII

CASP4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001216.1 NP_150649.1

ENSEMBL proteins:

ENSP00000388566 ENSP00000376857 ENSP00000432879 ENSP00000401673

Reactome Protein details: P49662
Human Recombinant Protein Products:

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	Uscn Proteins for CASP4

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--

CASP4 for ontologies About GeneDecksing

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	ThermoFisher Antibody for CASP4

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	Uscn ELISAs and CLIAs for CASP4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CASP4 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR001309 Pept_C14_ICE_p20

IPR011029 DEATH-like_dom

IPR017350 Caspase_IL-1_beta

IPR002138 Pept_C14_p10

IPR015917 Pept_C14_p45_core

Graphical View of Domain Structure for InterPro Entry P49662

ProtoNet protein and cluster: P49662

3 Blocks protein families:

IPB001309 Caspase-1

IPB001315 CARD interaction domain

IPB002398 Interleukin-1B converting enzyme signature

UniProtKB/Swiss-Prot: CASP4_HUMAN, P49662

Similarity: Belongs to the peptidase C14A family

Similarity: Contains 1 CARD domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CASP4_HUMAN, P49662

Function: Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves caspase-1

Catalytic activity: Strict requirement for Asp at the P1 position. It has a preferred cleavage sequence of

Tyr-Val-Ala-Asp- - but also cleaves at Asp-Glu-Val-Asp- -

Genatlas biochemistry entry for CASP4:

caspase 4,cysteine containing aspartate-specific protease,CASP1 subfamily,potentially involved in procytokine

activation,stored in the mitochondrial intermembrane space and released into cytosol after appropriate apoptotic

stimuli,promoting apoptosis,homolog to mammalian interleukin 1 beta convertase (IL1BC)

Enzyme Numbers (IUBMB): EC 3.4.22² EC 3.4.22.57¹

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Gene Editing
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		Search LifeMap BioReagents cell lines for CASP4

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP4

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004197	cysteine-type endopeptidase activity	IEA	--

CASP4 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CASP4:

Decreased viability of wild-ty

Animal Models:
Mouse knock-outs for CASP4: Casp4^tm1Yuan Casp1/Casp4^Casp1/tm1Bhk
2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Casp4):

homeostasis/metabolism

immune system

CASP4 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Apoptosis and survival_Caspase cascade

	Apoptosis and survival_Caspase cascade	1.00			Caspase cascade in apoptosis	0.42
	Apoptosis and survival Caspase cascade	1.00

Immune System

Immune System

1.00

Innate Immune System

0.46

TNF-Induced Apoptosis Implicating Sphingolipids

TNF-Induced Apoptosis Implicating Sphingolipids

1.00

Ceramide Pathway

0.32

Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways

Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways

1.00

NOD1/2 Signaling Pathway

0.69

Apoptosis and Autophagy

Apoptosis and Autophagy

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CASP4

Apoptosis and survival Caspase cascade

5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CASP4 (see all 11)

	14-3-3 Induced Apoptosis
	DHA Signaling
	S-1P Stimulated Signaling
	Endothelin-1 Signaling Pathway
	TNF-Induced Apoptosis Implicating Sphingolipids

1 Cell Signaling Technology (CST) Pathway for CASP4

Apoptosis and Autophagy

1 GeneGo (Thomson Reuters) Pathway for CASP4

Apoptosis and survival Caspase cascade

2 BioSystems Pathways for CASP4

	Apoptosis
	Caspase cascade in apoptosis

4 Reactome Pathways for CASP4

	NOD1/2 Signaling Pathway
	Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
	Immune System
	Innate Immune System

CASP4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CASP4

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/62 Interacting proteins for CASP4 (P49662³ ENSP00000388566⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 62)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CASP10	Q92851³, ENSP00000286186⁴	I2D: score=3 STRING: ENSP00000286186
PSEN1	P49768³, ENSP00000326366⁴	I2D: score=3 STRING: ENSP00000326366
APAF1	O14727³, ENSP00000353059⁴	I2D: score=2 STRING: ENSP00000353059
APP	P05067³, ENSP00000284981⁴	I2D: score=2 STRING: ENSP00000284981
CASP14	P31944³, ENSP00000221740⁴	I2D: score=2 STRING: ENSP00000221740

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--
GO:0006915	apoptotic process	IEA	--
GO:0006917	induction of apoptosis	TAS	7743998
GO:0042981	regulation of apoptotic process	--	--

CASP4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CASP4 for compounds About GeneDecksing

EMD Millipore small molecules for CASP4:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for CASP4 available from Tocris Bioscience About this table

Compound	Action	CAS #
Ac-LEHD-AFC	Fluorogenic caspase substrate	[210345-03-2]
Z-VAD-FMK	Cell-permeable, irreversible caspase inhibitor	--

8 Novoseek chemical compound relationships for CASP4 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tunicamycin	73.4	3	18029041 (1), 17942905 (1), 19643964 (1)
bortezomib	47.7	5	16357160 (2), 16891470 (1), 18645004 (1)
thapsigargin	41.8	3	19276550 (1), 17942905 (1), 19643964 (1)
cysteine	40.9	2	16465268 (1), 16596996 (1)
tetrapeptide	31.1	1	10713077 (1)
calcium	27.4	5	17995926 (1), 19528481 (1), 19894226 (1), 17431104 (1) (see all 5)
oxygen	7.59	2	19138722 (1)
indomethacin	0	1	16184425 (1)

Search CenterWatch for drugs/clinical trials and news about CASP4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CASP4 gene (3 alternative transcripts):

NM_001225.3 NM_033306.2 NM_033307.2

Unigene Cluster for CASP4:

Caspase 4, apoptosis-related cysteine peptidase

Hs.138378 [show with all ESTs]

Unigene Representative Sequence: AL050391

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000525116 ENST00000444739(uc001pid.1) ENST00000393150(uc001pib.1)

ENST00000533252 ENST00000529565(uc010rux.1) ENST00000530309 ENST00000533730(uc009yxg.1)

ENST00000534356 ENST00000529183 ENST00000524843 ENST00000531333 ENST00000417440

ENST00000531546(uc010ruy.1)

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Additional cDNA sequence:

AK057094.1 AK225751.1 AK296081.1 AK304222.1 AL050391.1 BC008060.2 BC017839.1 U25804.1

U28014.1 U28976.1 U28977.1 U28978.1 U28979.1 Z48810.1

12 DOTS entries:

DT.448001 DT.118117 DT.100674486 DT.91759546 DT.100674487 DT.87010730 DT.100674492 DT.91746508

DT.95320649 DT.97846147 DT.99965630 DT.423045

24/305 AceView cDNA sequences (see all 305):

CB145253 AI572301 BE503626 CB136090 CB144587 BX359602 AA463732 AA261893

BM822702 BM456310 BM696793 CB134604 U25804 BU152578 U28978 CB159078

CB122645 CR596626 BU680959 BQ672285 BQ687713 CR595643 AA886339 U28976

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for CASP4 About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10
SP1:							-
SP2:
SP3:							-		-		-
SP4:

ECgene alternative splicing isoforms for CASP4

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CASP4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACAAGATATT

About this image

CASP4 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Epicardium

Kidney

Kidney

Kidney

Kidney

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CASP4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CASP4

SOURCE GeneReport for Unigene cluster: Hs.138378

UniProtKB/Swiss-Prot: CASP4_HUMAN, P49662

Tissue specificity: Widely expressed, with highest levels in spleen and lung. Moderate expression in heart and liver,

low expression in skeletal muscle, kidney and testis. Not found in the brain

SABiosciences Expression via Pathway-Focused PCR Arrays including CASP4:

Alzheimer's Disease in human mouse rat

Apoptosis 384HT in human mouse rat

Apoptosis in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASP4

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP4

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CASP4 gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1P0X7_CHICK⁶	caspase 1	36(a)	1 → many	19(644765-649090)
lizard (Anolis carolinensis)	Reptilia	--	--	50(a)	1 → many	GL344618.1(3490-9499)
zebrafish (Danio rerio)	Actinopterygii	zgc:171731¹	zgc:171731	50.19(n) 43.4(a)		563034 NM_001109712.1 NP_001103182.1
fruit fly (Drosophila melanogaster)	Insecta	Nc⁶ Dredd⁶	Death related ced-3/Nedd2-like protein	11(a) 10(a)	possible ortholog 1 ↔ many	3L(9961579-9964102) X(527553-529760)
worm (Caenorhabditis elegans)	Secernentea	csp-2⁶ ced-3⁶ (see all 4)	CaSPase family member (csp-2) Cell death protein 3 Cell death protein 3 subunit ... (see all 4)	8(a) 15(a) (see all 4)	possible ortholog possible ortholog (see all 4)	IV(6307728-6315708) IV(13199206-13206272)

ENSEMBL Gene Tree for CASP4 (if available)
TreeFam Gene Tree for CASP4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CASP4 gene

CASP16² CASP6² CASP8² CASP12² CASP9² CASP7² CASP3² CASP2²

CASP14² CASP1² CASP5² CASP10²

6 SIMAP similar genes for CASP4 using alignment to 3 protein entries: CASP4_HUMAN (see all proteins):

DKFZp586A181 mih1/Tx LOC643733 CASP5 CASP1 CASP12

CASP4 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for CASP4
PGOHUM00000257860

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34436514^1,2	C,F,	--	104813100(+)	`CAGATA/GGTTCC`	2	--	ds500¹		14		NS NA WA CSA EA	556
rs143441733^1,2		--	104813108(+)	`TCCACA/CTTTTA`	2	--	ds500¹		0	--	--	--	--
rs181147341^1,2		--	104813359(+)	`TTTTTG/TGGGGC`	2	--	ds500¹		0	--	--	--	--
rs660718^1,2	C,F,A,	--	104813373(-)	`TCCCAC/TCAAAA`	2	--	ds500¹		13		NA WA CSA EA	376
rs112240626^1,2		--	104813420(+)	`GTTTTC/TGGCAA`	2	--	ds500¹		1		CSA	2
rs17103399^1,2	C,F,H,	--	104813581(+)	`ATTAGA/CAAAAG`	2	--	ds500¹		20		NA NS EA WA	1624
rs56380626^1,2	C,F,	--	104813596(-)	`ACAAAC/TGAACT`	2	--	ut3¹		6		NS WA	288
rs547584^1,2	C,F,O,A,H,	--	104813887(-)	`AAGAAA/GTAATA`	2	--	int¹ trp³		20		MN NS EA NA WA	1154
rs1801004^1,2		--	104813925(+)	`GTCTCG/ACTCAG`	2	--	int¹		1		NA	120
rs148070195^1,2		--	104813974(+)	`ACCACA/GCGATC`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CASP4 (104813593 - 104840163 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CASP4
1 CNV: 8695

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CASP4 for disorders           About GeneDecksing

OMIM gene information: 602664    OMIM disorders: --

20/51 diseases for CASP4 (see all 51):    About MalaCards

nephropathic cystinosis thoracic aortic aneurysm non-hodgkin lymphoma aortic aneurysm

gastrointestinal stromal tumor cystinosis synovitis cowpox

amyotrophic lateral sclerosis lateral sclerosis hodgkin's lymphoma chronic lymphocytic leukemia

chronic myeloid leukemia lymphocytic leukemia myeloid leukemia malignant glioma

squamous cell carcinoma gastric ulcer multiple myeloma alzheimer's disease

10/11 Novoseek disease relationships for CASP4 gene (see all 11) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cowpox	49.2	1	16465268 (1)
cancer	25.2	3	19106640 (1), 18430458 (1)
alzheimers disease	17.7	3	17942194 (1), 15123740 (1), 19931333 (1)
melanoma	16.8	5	18842681 (1), 16596996 (1), 18245485 (1), 17942905 (1)
tumors	15.5	7	17431104 (2), 18635549 (1), 16380976 (1), 15469074 (1)
necrosis	14	1	18635549 (1)
cancer lung	2.27	1	17344942 (1)
carcinoma squamous cell	0	8	15017724 (5), 15469074 (3)
inflammation	0	1	19643964 (1)
liver diseases	0	1	17559149 (1)

Human Genome Epidemiology (HuGE) Navigator: CASP4 (9 documents)

Export disorders for CASP4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CASP4 gene, integrated from 9 sources (see all 145):
(articles sorted by number of sources associating them with CASP4)

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Identification and characterization of ICH-2, a novel member of the interleukin-1 beta-converting enzyme family of cysteine proteases. (PubMed id 7797510)^{1, 2, 3} Kamens J.... Ghayur T. (1995)
Molecular cloning and pro-apoptotic activity of ICErelII and ICErelIII, members of the ICE/CED-3 family of cysteine proteases. (PubMed id 7797592)^{1, 2, 9} Munday N.A.... Nicholson D.W. (1995)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Interleukin-1beta-converting enzyme (ICE) and related cell death genes ICErel-II and ICErel-III map to the same PAC clone at band 11q22.2-22.3. (PubMed id 9250871)^{1, 3} Nasir J....Hayden M.R. (1997)
A novel human protease similar to the interleukin-1 beta converting enzyme induces apoptosis in transfected cells. (PubMed id 7743998)^{1, 2} Faucheu C.... Lalanne J.-L. (1995)
Caspase-4 interacts with TNF receptor-associated factor 6 and mediates lipopolysaccharide-induced NF-kappaB-dependent production of IL-8 and CC chemokine ligand 4 (macrophage-inflammatory protein-1 ). (PubMed id 18056395)^{1, 9} Lakshmanan U. and Porter A.G. (2007)
Presenilin-1 mutation activates the signaling pathway of caspase-4 in endoplasmic reticulum stress-induced apoptosis. (PubMed id 17942194)^{1, 9} Yukioka F....Tohyama M. (2008)
Involvement of caspase-4 in endoplasmic reticulum stress-induced apoptosis and Abeta-induced cell death. (PubMed id 15123740)^{1, 9} Hitomi J....Tohyama M. (2004)
Caspase-12 and caspase-4 are not required for caspase-dependent endoplasmic reticulum stress-induced apoptosis. (PubMed id 15975932)^{1, 9} Obeng E.A. and Boise L.H. (2005)
Caspase-1 (interleukin-1beta-converting enzyme) is inhibited by the human serpin analogue proteinase inhibitor 9. (PubMed id 10477277)^{1, 9} Annand R.R....Giegel D.A. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 837	HGNC: 1505	AceView: CASP4	Ensembl:ENSG00000196954	euGenes: HUgn837
ECgene: CASP4	H-InvDB: CASP4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CASP4	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CASP4	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/casp4/

Intellectual Property for CASP4 gene
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Patent Information for CASP4 gene:
Search GeneIP for patents involving CASP4

GeneCards and IP:
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caspase 4, apoptosis-related cysteine peptidase

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