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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CASP10 Gene

protein-coding GIFtS: 71
GCID: GC02P202047

caspase 10, apoptosis-related cysteine peptidase

(Previous names: caspase 10, apoptosis-related cysteine protease )

Explore 63 diseases affiliated with
CASP10 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 10, Apoptosis-Related Cysteine Peptidase¹ ²		ICE-Like Apoptotic Protease 4² ³
MCH4¹ ² ³ ⁵		ALPS2² ⁵
Caspase 10, Apoptosis-Related Cysteine Protease¹ ²		Caspase-10¹
Apoptotic Protease Mch-4² ³		FADD-Like ICE2²
CASP-10² ³		Interleukin-1B-Converting Enzyme 2²
FLICE2² ³		EC 3.4.22.63³
FAS-Associated Death Domain Protein Interleukin-1B-Converting Enzyme 2² ³

External Ids:	HGNC: 1500¹	Entrez Gene: 843²	Ensembl: ENSG00000003400⁷	OMIM: 601762⁵	UniProtKB: Q92851³

Export aliases for CASP10 gene to outside databases

Previous GC identifers: GC02P200264 GC02P200772 GC02P202011 GC02P202250 GC02P202223 GC02P201873 GC02P201756 GC02P193898

(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 CASP10:

This gene encodes a protein which 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 which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and

small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein

itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative

syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different

isoforms have been described for this gene. (provided by RefSeq, Apr 2011)

UniProtKB/Swiss-Prot: CASPA_HUMAN, Q92851

Function: Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas-

and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and

activates caspase-3, -4, -6, -7, -8, and -9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp- -AMC and

Asp-Glu-Val-Asp- -AMC

Function: Isoform C is proteolytically inactive

summary for CASP10:

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.

Gene Wiki entry for CASP10 (Caspase 10)

(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_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CASP10 gene promoter:
p53 AP-1 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CASP10 promoter sequence

Search SABiosciences Chromatin IP Primers for CASP10

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASP10

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

Entrez Gene cytogenetic band: 2q33-q34 Ensembl cytogenetic band: 2q33.1 HGNC cytogenetic band: 2q33-q34

CASP10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASP10 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P202047: view genomic region (about GC identifiers)

Start:	202,047,604 bp from pter	End:	202,094,129 bp from pter
Size:	46,526 bases	Orientation:	plus 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: CASPA_HUMAN, Q92851 (See protein sequence)

Recommended Name: Caspase-10 precursor

Size: 521 amino acids; 58951 Da

Subunit: Heterotetramer that consists of two anti-parallel arranged heterodimers, each one formed by a 23/17 kDa

(p23/17) (depending on the splicing events) and a 12 kDa (p12) subunit (By similarity). Self-associates. Interacts

with FADD and CASP8. Found in a Fas signaling complex consisting of FAS, FADD, CASP8 and CASP10

Secondary accessions: Q6KF62 Q6KF63 Q8IUP5 Q8WYQ8 Q99845 Q9Y2U6 Q9Y2U7

Alternative splicing: 6 isoforms: Q92851-1 Q92851-2 Q92851-4 Q92851-3 Q92851-5 Q92851-6 (Variant in position: 455:L->I (in dbSNP:rs13006529))

Explore the universe of human proteins at neXtProt for CASP10: NX_Q92851

Post-translational modifications:

Cleavage by granzyme B and autocatalytic activity generate the two active subunits¹

Phosphorylated upon DNA damage, probably by ATM or ATR¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q92851

CASP10 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (6 alternative transcripts):

NP_001193453.1 NP_001193471.1 NP_001221.2 NP_116756.2 NP_116758.1 NP_116759.2

ENSEMBL proteins:

ENSP00000286186 ENSP00000272879 ENSP00000401914 ENSP00000363781 ENSP00000237865

ENSP00000314599 ENSP00000396835 ENSP00000353250

Reactome Protein details: Q92851
Human Recombinant Protein Products for CASP10:

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	GenScript Custom Purified and Recombinant Proteins Services for CASP10
	Novus Biologicals CASP10 Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CASP10

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	TAS	--

CASP10 for ontologies About GeneDecksing

CASP10 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CASP10
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Assay Products for CASP10:

	EMD Millipore Kits and Assays for the Analysis of CASP10
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	GenScript CASP10-Activity-based Protease Assay for Compound Screening
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CASP10

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

CASP10 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR001309 Pept_C14_ICE_p20

IPR011029 DEATH-like_dom

IPR002138 Pept_C14_p10

IPR015917 Pept_C14_p45_core

IPR011600 Pept_C14_cat

Graphical View of Domain Structure for InterPro Entry Q92851

ProtoNet protein and cluster: Q92851

2 Blocks protein families:

IPB001309 Caspase-1

IPB001875 Death effector protein

UniProtKB/Swiss-Prot: CASPA_HUMAN, Q92851

Similarity: Belongs to the peptidase C14A family

Similarity: Contains 2 DED (death effector) domains

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: CASPA_HUMAN, Q92851

Function: Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas-

and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and

activates caspase-3, -4, -6, -7, -8, and -9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp- -AMC and

Asp-Glu-Val-Asp- -AMC

Function: Isoform C is proteolytically inactive

Catalytic activity: Strict requirement for Asp at position P1 and has a preferred cleavage sequence of Leu-Gln-Thr-Asp-

-Gly

Genatlas biochemistry entry for CASP10:

caspase 10,cysteine containing aspartate-specific protease,expressed in fetal lung,kidney,skeletal muscle,stored in the

mitochondrial intermembrane space and released into cytosol after appropriate apoptotic stimuli,recruited to the CD99

and p55 tumor necrosis factor receptor signaling complexes and promoting CD95 (APO1/Fas) apoptosis,homolog to C

elegans cell death gene Ced-3

Enzyme Number (IUBMB): EC 3.4.22.63¹

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004197	cysteine-type endopeptidase activity	IEA	--
GO:0005515	protein binding	IPI	--

CASP10 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for CASP10:

Decreased viability of wild-ty

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CASP10

miRNA Products:		OriGene 3'-UTR Clone (see all 3): CASP10 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CASP10
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate CASP10 (see all 10):
		hsa-miR-181c hsa-miR-561 hsa-miR-222 hsa-miR-181a hsa-miR-221 hsa-miR-181d hsa-miR-1207-3p hsa-miR-145

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CASP10 OriGene shRNA RFP: CASP10 OriGene siRNA: CASP10
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		Sirion Biotech Custom design and validation of potent shRNA sequences against CASP10

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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 6): CASP10 (NM_032977)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP10

(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 - 5/31 super-pathways (see all 31) 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	Apoptosis and survival FAS signaling cascades	0.44
Apoptosis and survival Caspase cascade	1.00	Caspase cascade in apoptosis	0.42
Apoptosis and survival_FAS signaling cascades	0.44	FAS pathway and Stress induction of HSP regulation	0.33

TWEAK Pathway

GITR Pathway	0.46	Apoptosis through Death Receptors	0.32
Apoptosis and survival TNFR1 signaling pathway	0.40	Fas Signaling	0.29
Apoptosis and survival_TNFR1 signaling pathway	0.40

Apoptosis and survival_Apoptotic TNF-family pathways

	Apoptosis and survival_Apoptotic TNF-family pathways	1.00			Apoptosis Signaling Pathways	0.35
	Apoptosis and survival Apoptotic TNF-family pathways	1.00

FasL/ CD95L signaling

FasL/ CD95L signaling

1.00

TRAIL signaling

0.43

Immune System

Immune System

1.00

Innate Immune System

0.46

Pathway sources
See GeneCards unified pathways
Show all pathways

5 EMD Millipore Pathways for CASP10

	Apoptosis and survival TNFR1 signaling pathway
	Apoptosis and survival Caspase cascade
	Apoptosis and survival FAS signaling cascades
	Apoptosis and survival Apoptotic TNF-family pathways
	Selected targets of p53

1 R&D Systems Pathway for CASP10

Apoptosis Signaling Pathways

5/16 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CASP10 (see all 16)

	Caspase Cascade
	S-1P Stimulated Signaling
	14-3-3 Induced Apoptosis
	DHA Signaling
	Endothelin-1 Signaling Pathway

1 Cell Signaling Technology (CST) Pathway for CASP10

Apoptosis and Autophagy

2 Tocris Bioscience Pathways for CASP10

	Apoptosis Pathway
	VEGF Pathway

4 GeneGo (Thomson Reuters) Pathways for CASP10

	Apoptosis and survival Apoptotic TNF-family pathways
	Apoptosis and survival Caspase cascade
	Apoptosis and survival FAS signaling cascades
	Apoptosis and survival TNFR1 signaling pathway

5/10 BioSystems Pathways for CASP10 (see all 10)

	Apoptosis
	FAS pathway and Stress induction of HSP regulation
	Apoptosis Modulation and Signaling
	Integrated Pancreatic Cancer Pathway
	Integrated Pancreatic Cancer Pathway

5/9 Reactome Pathways for CASP10 (see all 9)

	FasL/ CD95L signaling
	NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
	Apoptosis
	Death Receptor Signalling

3 Kegg Pathways (Kegg details for CASP10):

	Apoptosis
	RIG-I-like receptor signaling pathway
	Tuberculosis

CASP10 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CASP10

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

5/55 Interacting proteins for CASP10 (Q92851^{1, 2, 3} ENSP00000286186⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 55)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CASP8	Q14790¹^,²^,³, ENSP00000351273⁴	EBI-495095,EBI-78060 MINT-4055393 I2D: score=5 STRING: ENSP00000351273
FADD	Q13158²^,³, ENSP00000301838⁴	MINT-16276 MINT-16275 I2D: score=6 STRING: ENSP00000301838
FASLG	P48023²^,³, ENSP00000356694⁴	MINT-1956332 I2D: score=3 STRING: ENSP00000356694
RIPK1	Q13546¹^,³, ENSP00000259808⁴	EBI-495095,EBI-358507 I2D: score=2 STRING: ENSP00000259808
CASP3	P42574³, ENSP00000311032⁴	I2D: score=4 STRING: ENSP00000311032

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--
GO:0006915	apoptotic process	TAS	--
GO:0006917	induction of apoptosis	TAS	10412980
GO:0042981	regulation of apoptotic process	--	--
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB cascade	RCA	19641626

CASP10 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

CASP10 for compounds About GeneDecksing

EMD Millipore small molecules for CASP10:
Small Molecule - inhibitor

Enzo Life Sciences drugs & compounds for CASP10

Compounds for CASP10 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	--

4 Novoseek chemical compound relationships for CASP10 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cysteine	32.4	4	8962078 (1), 10187817 (1), 8755496 (1)
paclitaxel	22	8	15452117 (3), 17652622 (2), 18575755 (1), 16579975 (1)
actinomycin d	6.07	1	16538385 (1)
serine	0	2	8755496 (1), 9334372 (1)

Search CenterWatch for drugs/clinical trials and news about CASP10 / CASPA

(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, Sirion Biotech, 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 CASP10 gene (6 alternative transcripts):

NM_001206524.1 NM_001206542.1 NM_001230.4 NM_032974.4 NM_032976.3 NM_032977.3

Unigene Cluster for CASP10:

Caspase 10, apoptosis-related cysteine peptidase

Hs.5353 [show with all ESTs]

Unigene Representative Sequence: NM_032977

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

ENST00000286186(uc002uxj.1) ENST00000460140 ENST00000272879(uc002uxl.2 uc002uxm.2)

ENST00000438843 ENST00000374650(uc002uxi.1) ENST00000346817 ENST00000313728

ENST00000448480 ENST00000484926 ENST00000492363 ENST00000471191 ENST00000485408

ENST00000360132(uc010zhn.1 uc010ftb.2 uc010fta.1 uc002uxk.1)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CASP10
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate CASP10 (see all 10):
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CASP10 OriGene shRNA RFP: CASP10 OriGene siRNA: CASP10
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Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CASP10 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse / rat CASP10
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASP10
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASP10

Additional cDNA sequence:

AF111345.1 AJ487678.1 AJ487679.1 AK225475.1 AK304859.1 AK310746.1 AY690601.3 BC042844.1

U60519.1

11 DOTS entries:

DT.312858 DT.100813215 DT.99963912 DT.120982612 DT.92422386 DT.312859 DT.102828527 DT.95179407

DT.70104279 DT.97837542 DT.100683221

24/77 AceView cDNA sequences (see all 77):

NM_032974 NM_032977 BF593184 BU150820 AA927774 BI821101 AL698180 CA427402

AA361873 AI224166 NM_001230 NM_032976 BQ709553 AI393978 BF002154 AJ487678

BP871945 BI091852 AA258810 BF594828 AU140523 D25715 AA258856 AI651986

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for CASP10 (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2a	·	2b	·	2c	^	3a	·	3b	·	3c	^	4a	·	4b	·	4c	^	5	^	6	^	7	^	8	^	9	^	10	^	11a	·	11b	·	11c	·	11d	^	12a	·
SP1:																	-						-						-				-										-		-		-		-
SP2:																	-						-						-				-
SP3:																	-						-						-				-		-		-
SP4:																	-						-						-				-				-		-
SP5:																	-						-						-				-		-		-						-		-		-		-

ExUns:	12b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CASP10

(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

CASP10 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACAGTAAAT

About this image
See CASP10 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CASP10

SOURCE GeneReport for Unigene cluster: Hs.5353

UniProtKB/Swiss-Prot: CASPA_HUMAN, Q92851

Tissue specificity: Detectable in most tissues. Lowest expression is seen in brain, kidney, prostate, testis and colon

SABiosciences Expression via Pathway-Focused PCR Arrays including CASP10:

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(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 chordates.

Orthologs for CASP10 gene from 4/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CASP10¹	caspase 10, apoptosis-related cysteine peptidase	56.94(n) 49.89(a)		424081 XM_421936.3 XP_421936.3
lizard (Anolis carolinensis)	Reptilia	CASP10⁶	--	45(a)	1 ↔ 1	GL343478.1(368994-383720)
African clawed frog (Xenopus laevis)	Amphibia	AB038173.1²	--	71.47(n)		AB038173.1
zebrafish (Danio rerio)	Actinopterygii	casp8l2¹	caspase 8, apoptosis-related cysteine peptidase, like more	46.48(n) 35.63(a)		557302 XM_680338.5 XP_685430.3

ENSEMBL Gene Tree for CASP10 (if available)
TreeFam Gene Tree for CASP10 (if available)

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

Paralogs for CASP10 gene

CASP16² CASP6² CASP8² CASP12² CASP9² CASP7² CASP3² CASP2²

CASP14² CASP1² CASP5² CASP4²

1 SIMAP similar gene for CASP10 using alignment to 3 protein entries: CASPA_HUMAN (see all proteins):

CASP8

CASP10 for paralogs About GeneDecksing

(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)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs17860405^1,2	C,F	non-pathogenic	193925576(+)	`AGGCTA/GTGTAT`	11	Y C	mis¹ ut3¹ ese³		12		NS NA EU	6559
rs17860403^1,2	C	pathogenic	193924205(+)	`GAGGCC/TTCTGT`	11	L F P	mis¹ int¹ ese³		1		NA	2
rs80358239^1,2	C,F	pathogenic	193925455(+)	`AAGAGA/C/TTACAG`	17	I L	mis¹ ut3¹		2		NA EU	5873
rs13010627^1,2	C,F,H	pathogenic	202074098(+)	`CTTCCG/ATATCC`	11	/I /V	mis¹ ut3¹ ese³		28		NS EA MN WA NA EU	8571
rs121909776^1,2	C	other	193903889(+)	`TGAAAC/TGGTGA`	12	T M	mis¹		0	--	--	--	--
rs28936699^1,2	C	other	193925480(+)	`CGAAGC/TAGATG`	11	A V	mis¹ ut3¹		1		NA	2
rs41497047^1,2	C	--	193897323(+)	`GCTCCG/AGCCCC`	6	--	us2k¹		5		NS	174
rs112223847^1,2		--	193897556(+)	`AGGCTG/TGTCTT`	6	--	us2k¹		1		CSA	2
rs41411846^1,2	C,F	--	193897637(+)	`GTGCCT/CGGCCA`	6	--	us2k¹		7		NS CSA	166
rs41496056^1,2	C,F	--	193897957(+)	`CTTTCT/GTAAGC`	6	--	us2k¹		8		NS WA CSA	284

HapMap Linkage Disequilibrium report for CASP10 (202047604 - 202094129 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CASP10: --
Human Gene Mutation Database (HGMD): CASP10

Locus Specific Mutation Databases (LSDB): CASP10

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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.)
About This Section

CASP10 for disorders           About GeneDecksing

OMIM gene information: 601762
OMIM disorders: 603909  605027  137215
UniProtKB/Swiss-Prot: CASPA_HUMAN, Q92851

Defects in CASP10 are the cause of autoimmune lymphoproliferative syndrome type 2A (ALPS2A) [MIM:603909].

ALPS2 is characterized by abnormal lymphocyte and dendritic cell homeostasis and immune regulatory defects

Defects in CASP10 are a cause of familial non-Hodgkin lymphoma (NHL) [MIM:605027]. NHL is a cancer that starts

in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often

marked by enlarged lymph nodes, fever and weight loss

Defects in CASP10 are a cause of gastric cancer (GASC) [MIM:613659]. A malignant disease which starts in the

stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph

nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma

refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic

types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated

infiltrating lesions resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic,

often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease

20/63 diseases for CASP10 (see all 63): About MalaCards

non-hodgkin lymphoma autoimmune lymphoproliferative syndrome lymphoproliferative syndrome hodgkin's lymphoma

synovitis autoimmune lymphoproliferative syndrome, type ii caspase-8 deficiency gastric cancer

amyotrophic lateral sclerosis (als) talipes equinovarus familial non-hodgkin lymphoma amyotrophic lateral sclerosis

gastric cancer, somatic lateral sclerosis gastrointestinal stromal tumor lymphoma, somatic

ectodermal dysplasia acute promyelocytic leukemia chronic lymphocytic leukemia breast-ovarian cancer

1 disease from the University of Copenhagen DISEASES database for CASP10:

Autoimmune lymphoproliferative syndrome

10/21 Novoseek disease relationships for CASP10 gene (see all 21) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
autoimmune lymphoproliferative syndrome	90.4	8	11717445 (1), 16446975 (1), 18818883 (1), 10412980 (1) (see all 8)
autoimmune lymphoproliferative syndrome, type ii	88.7	2	10412980 (1), 11397650 (1)
necrosis	54.5	12	9045686 (2), 15767684 (2), 11717445 (1), 14687710 (1) (see all 9)
tumors	43.4	17	9045686 (2), 16767158 (2), 15767684 (2), 11717445 (1) (see all 12)
melanoma	32.1	3	15707589 (2), 17160022 (1)
leukaemia lymphocytic	27.4	1	16579975 (1)
cancer	23.8	10	18716417 (3), 12588423 (1), 19900088 (1), 18563783 (1) (see all 6)
lymphadenopathy	23.6	1	12353035 (1)
leukemia	23.3	4	19900088 (2)
gastric carcinoma	16.9	7	20025484 (1), 14714615 (1)

GeneTests: CASP10

Autoimmune Lymphoproliferative Syndrome

Genetic Association Database (GAD): CASP10
Human Genome Epidemiology (HuGE) Navigator: CASP10 (37 documents)

Export disorders for CASP10 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)
About This Section

PubMed articles for CASP10 gene, integrated from 9 sources (see all 216):
(articles sorted by number of sources associating them with CASP10)

Utopia: connect your pdf to the dynamic
world of online information

In vitro activation of CPP32 and Mch3 by Mch4, a novel human apoptotic cysteine protease containing two FADD-like domains. (PubMed id 8755496)^{1, 2, 3, 9} Fernandes-Alnemri T.... Alnemri E.S. (1996)
Mutational analysis of CASP10 gene in colon, breast, lung and hepatocellular carcinomas. (PubMed id 20025484)^{1, 2, 9} Oh J.E....Yoo N.J. (2010)
Mutational analysis of CASP10 gene in acute leukaemia s and multiple myelomas. (PubMed id 19900088)^{1, 2, 9} Kim M.S....Lee S.H. (2009)
Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas. (PubMed id 12010812)^{1, 2, 9} Shin M.S.... Lee S.H. (2002)
Molecular cloning and characterization of two novel pro-apoptotic isoforms of caspase-10. (PubMed id 10187817)^{1, 2, 9} Ng P.W.... Janicke R.U. (1999)
Fas-associated death domain protein interleukin-1beta-converting enzyme 2 (FLICE2), an ICE/Ced-3 homologue, is proximally involved in CD95- and p55-mediated death signaling. (PubMed id 9045686)^{1, 2, 9} Vincenz C. and Dixit V.M. (1997)
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. (PubMed id 16446975)^{1, 2, 9} Zhu S.... Puck J.M. (2006)
Caspase-10 is an initiator caspase in death receptor signaling. (PubMed id 11717445)^{1, 2, 9} Wang J.... Lenardo M.J. (2001)
Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma. (PubMed id 18563783)^{1, 2, 9} Li C....Wei Q. (2008)
Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. (PubMed id 10412980)^{1, 2, 9} Wang J.... Lenardo M.J. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 843	HGNC: 1500	AceView: CASP10	Ensembl:ENSG00000003400	euGenes: HUgn843
ECgene: CASP10	Kegg: 843	H-InvDB: CASP10

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CASP10	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CASP10	Genetics and Cytogenetics in Oncology and Haematology
CASP10base	http://bioinf.uta.fi/CASP10base/
Autoimmune Lymphoproliferative Syndrome Database (ALPSbase)	http://research.nhgri.nih.gov/ALPS/alpsII_mut.shtml
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CASP10
NIEHS-SNPs	http://egp.gs.washington.edu/data/casp10/

Intellectual Property for CASP10 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CASP10 gene:
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GeneCards and IP:
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CASP10 Gene

caspase 10, apoptosis-related cysteine peptidase

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caspase 10, apoptosis-related cysteine peptidase

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