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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CASP14 Gene

protein-coding   GIFtS: 59
GCID: GC19P015160

Caspase 14, Apoptosis-Related Cysteine Peptidase

(Previous names: caspase 14, apoptosis-related cysteine protease)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Caspase 14, Apoptosis-Related Cysteine Peptidase1 2
Caspase 14, Apoptosis-Related Cysteine Protease1 2
Apoptosis-Related Cysteine Protease1 2
CASP-142 3
caspase-142
EC 3.4.22.-3

External Ids:    HGNC: 15021   Entrez Gene: 235812   Ensembl: ENSG000001051417   OMIM: 6058485   UniProtKB: P319443   

Export aliases for CASP14 gene to outside databases

Previous GC identifers: GC19P015542 GC19P015008 GC19P015024 GC19P014730


(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 CASP14 Gene:
This gene encodes 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 caspase has been shown to be processed and activated by caspase 8
and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The
expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is
important for the formation of the skin barrier. (provided by RefSeq, Jul 2008)

GeneCards Summary for CASP14 Gene: 
CASP14 (caspase 14, apoptosis-related cysteine peptidase) is a protein-coding gene. Diseases associated with CASP14 include plasma cell neoplasm, and middle ear cholesteatoma, and among its related super-pathways are TNF Signaling and p53 Signaling. GO annotations related to this gene include cysteine-type endopeptidase activity. An important paralog of this gene is CASP16.

UniProtKB/Swiss-Prot: CASPE_HUMAN, P31944
Function: Believed to be a non-apoptotic caspase which is involved in epidermal differentiation. Seems to play a
role in keratinocyte differentiation and cornification. Probably regulates maturation of the epidermis by
proteolytically processing filaggrin (By similarity)

summary for CASP14 Gene:
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 CASP14 (Caspase 14) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CASP14 gene promoter:
         AhR   Elk-1   p53   AML1a   FOXO3   HNF-3beta   FOXO3b   C/EBPalpha   Arnt   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCASP14 promoter sequence
   Search SABiosciences Chromatin IP Primers for CASP14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASP14


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

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.12   HGNC cytogenetic band: 19p13.1

CASP14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASP14 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P015160:  view genomic region     (about GC identifiers)

Start:
15,160,195 bp from pter      End:
15,169,104 bp from pter
Size:
8,910 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CASPE_HUMAN, P31944 (See protein sequence)
Recommended Name: Caspase-14 precursor  
Size: 242 amino acids; 27680 Da
Subunit: Complex of unprocessed caspase-14 and processed 19 kDa (p19) and 10 kDa (p10) subunits
Subcellular location: Cytoplasm. Nucleus
Secondary accessions: O95823 Q3SYC9

Explore the universe of human proteins at neXtProt for CASP14: NX_P31944

Explore proteomics data for CASP14 at MOPED 

CASP14 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

CASP14 Protein Expression

REFSEQ proteins: NP_036246.1  
ENSEMBL proteins: 
 ENSP00000393417   ENSP00000221740  

Human Recombinant Protein Products for CASP14: 
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Sino Biological Recombinant Protein for CASP14
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Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for CASP14 

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--
GO:0005737cytoplasm IEA--
GO:0045095keratin filament IEA--

CASP14 for ontologies           About GeneDecksing



CASP14 Antibody Products: 
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Cloud-Clone Corp. ELISAs for CASP14 
Cloud-Clone Corp. CLIAs for CASP14


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
IUPHAR Guide to PHARMACOLOGY protein family classification: Caspase 14 
Caspases

5/6 InterPro protein domains (see all 6):
 IPR001309 Pept_C14_ICE_p20
 IPR002138 Pept_C14_p10
 IPR015917 Pept_C14_p45_core
 IPR011600 Pept_C14_cat
 IPR016129 Pept_C14_ICE_p20_AS

Graphical View of Domain Structure for InterPro Entry P31944

ProtoNet protein and cluster: P31944

1 Blocks protein domain: IPB002398 Interleukin-1B converting enzyme signature

UniProtKB/Swiss-Prot: CASPE_HUMAN, P31944
Similarity: Belongs to the peptidase C14A family


CASP14 for domains           About GeneDecksing


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

Molecular Function:

     UniProtKB/Swiss-Prot Summary: CASPE_HUMAN, P31944
Function: Believed to be a non-apoptotic caspase which is involved in epidermal differentiation. Seems to play a
role in keratinocyte differentiation and cornification. Probably regulates maturation of the epidermis by
proteolytically processing filaggrin (By similarity)
Induction: In undifferentiated keratinocytes under postconfluency growth conditions (in vitro)

     Genatlas biochemistry entry for CASP14:
caspase 14,cysteine containing aspartate-specific protease,stored in the mitochondrial intermembrane space and
released into cytosol after appropriate apoptotic stimuli,promoting apoptosis,homolog to murine CASP14 expressed
in embryo and in adult skin

     Enzyme Number (IUBMB): EC 3.4.22.-1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0004197cysteine-type endopeptidase activity IEA--
GO:0008234cysteine-type peptidase activity ----
     
CASP14 for ontologies           About GeneDecksing


Phenotypes:
     2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Casp14):
 homeostasis/metabolism  integument 

CASP14 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Casp14tm1Wdec for CASP14

   inGenious Targeting Laboratory - Custom generated mouse model solutions for CASP14 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CASP14

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASP14 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASP14 

miRNA
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5 QIAGEN miScript miRNA Assays for microRNAs that regulate CASP14:
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Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
    
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASP14

Gene Editing
Products:
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GenScript: all cDNA clones in your preferred vector: CASP14 (NM_012114)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASP14
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                     Customized lentivirus expression plasmids for stable overexpression of CASP14 

Cell Line
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GenScript Custom overexpressing Cell Line Services for CASP14
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP14


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for CASP14 About                                                                                                See pathways by source

SuperPathContained pathways About
1TNF Signaling
Death Receptor Signaling0.50
2p53 Pathway
p53 Pathway0.38
3EGFR Signaling Pathway
EGFR Signaling Pathway
4Apoptosis and Autophagy
Apoptosis and Autophagy

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 Cell Signaling Technology (CST) Pathway for CASP14
    Apoptosis and Autophagy

3 Sino Biological Pathways for CASP14 
    EGFR Signaling Pathway
p53 Pathway
Death Receptor Signaling



CASP14 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CASP14

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/17 Interacting proteins for CASP14 (P319443 ENSP000002217404) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
InteractantInteraction Details
GeneCardExternal ID(s)
CASP10Q928513, ENSP000002861864I2D: score=2 STRING: ENSP00000286186
CASP4P496623, ENSP000003885664I2D: score=2 STRING: ENSP00000388566
CASP8Q147903, ENSP000003512734I2D: score=2 STRING: ENSP00000351273
CAPN1P073843, ENSP000002792474I2D: score=1 STRING: ENSP00000279247
USP53Q70EK83, ENSP000002740304I2D: score=2 STRING: ENSP00000274030
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0006508proteolysis IEA--
GO:0006915apoptotic process IEA--
GO:0008544epidermis development TAS10203698
GO:0030154cell differentiation IEA--

CASP14 for ontologies           About GeneDecksing



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

CASP14 for compounds           About GeneDecksing

EMD Millipore small molecules for CASP14:
Small Molecule - inhibitor
Browse drugs & compounds from Enzo Life Sciences

Compounds for CASP14 available from Tocris Bioscience    About this table
CompoundAction CAS #
AZ 10417808Selective non-peptide caspase-3 inhibitor[331645-84-2]
Z-DQMD-FMKCaspase-3 inhibitor--
CisplatinPotent pro-apoptotic anticancer agent; activates caspase-3[15663-27-1]
Z-DEVD-FMK Cell-permeable, irreversible caspase-3 inhibitor --
Z-VAD-FMK Cell-permeable, irreversible caspase inhibitor [187389-52-2]

6 Novoseek inferred chemical compound relationships for CASP14 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
cysteine 56.7 9 9414118 (1), 8643593 (1), 18041091 (1), 16430140 (1) (see all 9)
tetrapeptide 52.4 2 16854378 (1), 10764048 (1)
egcg 49.5 9 15537824 (4), 17620095 (2), 17436577 (1)
aspartate 18.3 4 12200134 (2), 12181750 (1)
retinoic acid 7.64 3 15331408 (2)
calcium 0 1 12181750 (1)

Search CenterWatch for drugs/clinical trials and news about CASP14 / CASPE

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CASP14 gene: 
NM_012114.2  

Unigene Cluster for CASP14:

Caspase 14, apoptosis-related cysteine peptidase
Hs.466057  [show with all ESTs]
Unigene Representative Sequence: EU502748
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000427043(uc010dzv.2) ENST00000598738 ENST00000221740

miRNA
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5 QIAGEN miScript miRNA Assays for microRNAs that regulate CASP14:
hsa-miR-549 hsa-miR-569 hsa-miR-185 hsa-miR-4306 hsa-miR-1253
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for CASP14
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASP14
Clone
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OriGene clones in human, mouse for CASP14 (see all 6)
OriGene ORF clones in mouse, rat for CASP14
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: CASP14 (NM_012114)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASP14
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASP14
Sirion Biotech Customized lentivirus for stable overexpression of CASP14 
                     Customized lentivirus expression plasmids for stable overexpression of CASP14 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for CASP14
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SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CASP14
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASP14
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASP14

Additional mRNA sequence: 

AF097874.1 AK313992.1 BC069541.1 BC103868.1 BC103869.1 EU262664.1 EU502748.1 

5 DOTS entries:

DT.91716894  DT.91756482  DT.91716891  DT.121486669  DT.91730497 

16 AceView cDNA sequences:

AF097874 NM_012114 BC069541 BF380910 BF843203 BF739066 BE940739 BF093917 
BF914944 AW796525 BF737240 AW796661 BE939716 BF380585 BF916315 BQ300908 

GeneLoc Exon Structure


(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

CASP14 expression in normal human tissues (normalized intensities)      CASP14 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AATTCACTCT
CASP14 Expression
About this image


CASP14 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/12 selected tissues (see all 12) fully expand
 
 Epithelium (Reproductive System)    fully expand to see all 3 entries
         vagina ; squamous epithelial cells   
 
 Epidermis (Integumentary System)    fully expand to see all 2 entries
         Corneocytes Stratified Epidermis
         vulva/anal skin ; epidermal cells   
 
 Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
         rectum ; glandular cells   
 
 Testis (Reproductive System)    fully expand to see all 2 entries
         seminal vesicle ; glandular cells   
 
 Uterus (Reproductive System)
         cervix, uterine ; squamous epithelial cells   

See CASP14 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CASP14

SOURCE GeneReport for Unigene cluster: Hs.466057

UniProtKB/Swiss-Prot: CASPE_HUMAN, P31944
Tissue specificity: Expressed in keratinocytes of adult skin suprabasal layers (from spinous layers to the stratum
granulosum and stratum corneum) (at protein level). Expressed in keratinocytes of hair shaft and sebaceous glands
(at protein level). In psoriatic skin only expressed at very low levels

    SABiosciences Expression via Pathway-Focused PCR Arrays including CASP14: 
          Apoptosis 384HT in human mouse rat
          Apoptosis in human mouse rat

Primer
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASP14
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASP14
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASP14

(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 CASP14 gene from 3/9 species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Casp141 , 5 caspase 141, 5 78.84(n)1
75.1(a)1
  10 (39.72 cM)5
123651  NM_009809.51  NP_033939.11 
 787119975 
fruit fly
(Drosophila melanogaster)
Insecta Nc6
Nedd2-like caspase
12(a)
1 → many
3L(9961579-9964102)
worm
(Caenorhabditis elegans)
Secernentea csp-26
csp-36
(see all 4)
Protein CSP-3
(see all 4)
7(a)
17(a)
(see all 4)
many ↔ many
many ↔ many
(see all 4)
IV(6307739-6315719)
I(11888503-11889340)


ENSEMBL Gene Tree for CASP14 (if available)
TreeFam Gene Tree for CASP14 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for CASP14 gene
CASP162  CASP62  CASP82  CASP122  CASP92  CASP72  CASP32  CASP22  
CASP12  CASP52  CASP102  CASP42  
3 SIMAP similar genes for CASP14 using alignment to 3 protein entries:     CASPE_HUMAN (see all proteins):
DKFZp586A181    CASP16    CASP2

CASP14 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

10/344 SNPs in CASP14 are shown (see all 344)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1884178431,2
--15158417(+) GGATCC/TCTTGA 1 -- us2k10--------
rs1483829761,2
--15158437(+) TTCGAG/TACCAG 1 -- us2k10--------
rs104024091,2
C,F,A--15158454(+) caacaC/Tagcaa 1 -- us2k17Minor allele frequency- T:0.38NA WA EA 252
rs23667271,2
C,H--15158484(-) ttcctT/Caagat 1 -- us2k1 trp311Minor allele frequency- C:0.00NS NA WA CSA 232
rs104269941,2
C,F,A--15158497(+) aagtaG/Acaagg 1 -- us2k14Minor allele frequency- A:0.36WA NA EA 360
rs1172531821,2
C,F--15158532(+) CAGCTG/TCCCAG 1 -- us2k11Minor allele frequency- T:0.03NA 120
rs782078231,2
F--15158537(+) GCCCAG/AGAGGC 1 -- us2k11Minor allele frequency- A:0.33NA 6
rs1836241841,2
C--15158578(+) TTTTAA/GGCTGC 1 -- us2k10--------
rs1413908471,2
--15158615(+) TCCAGC/TCTGGG 1 -- us2k10--------
rs104013531,2
C,F,A,H--15158638(+) tctccG/Aaaaaa 1 -- us2k1 trp311Minor allele frequency- A:0.19NS EA NA WA 722

HapMap Linkage Disequilibrium report for CASP14 (15160195 - 15169104 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for CASP14:    About this table     
Variant IDTypeSubtypePubMed ID
dgv1058e1CNV Complex17122850

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 605848    OMIM disorders: --

20/31 diseases for CASP14 (see all 31):    About MalaCards
plasma cell neoplasm    middle ear cholesteatoma    eczema herpeticum    glanders
eczema    myocardial infarction    cholesteatoma    gastrointestinal stromal tumor
keloids    skin cancer    candidiasis    childhood leukemia
male infertility    alzheimer's disease    psoriasis    lung adenocarcinoma
infertility    choroiditis    ulcerative colitis    hodgkin's lymphoma


CASP14 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:  
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

7 Novoseek inferred disease relationships for CASP14 gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
psoriasis 14 3 15619438 (1), 15556625 (1)
carcinoma squamous cell 7.65 4 15537824 (1), 16061209 (1), 17366476 (1)
breast cancer 0.0455 1 16061209 (1)
necrosis 0 1 16907856 (1)
inflammation 0 2 17558860 (1), 16061862 (1)
tumors 0 10 16061862 (2), 19846913 (2), 15537824 (1), 16061209 (1)
cancer 0 14 17558860 (2), 16061862 (2), 19846913 (1), 17436577 (1)

Genetic Association Database (GAD): CASP14
Human Genome Epidemiology (HuGE) Navigator: CASP14 (7 documents)

Export disorders for CASP14 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 CASP14 gene, integrated from 9 sources (see all 81):
(articles sorted by number of sources associating them with CASP14)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Expression and transcriptional regulation of caspase-14 in simple and complex epithelia. (PubMed id 12181750)1, 2, 9 Pistritto G.... Alnemri E.S. (2002)
  2. Processing of native caspase-14 occurs at an atypical cleavage site in normal epidermal differentiation. (PubMed id 12200134)1, 2, 9 Chien A.J.... Kuechle M.K. (2002)
  3. Epidermal differentiation does not involve the pro-apoptotic executioner caspases, but is associated with caspase-14 induction and processing. (PubMed id 11175259)1, 2, 9 Lippens S.... Declercq W. (2000)
  4. Caspase-14: analysis of gene structure and mRNA expression during keratinocyte differentiation. (PubMed id 11062009)1, 2, 9 Eckhart L.... Tschachler E. (2000)
  5. Identification of a new caspase homologue: caspase-14. (PubMed id 10203698)1, 3, 9 Van de Craen M....Vandenabeele P. (1998)
  6. Mutational analysis of caspase-14 gene in common carcinomas. (PubMed id 17558860)1, 4, 9 Yoo N.J....Lee S.H. (2007)
  7. Caspase-14 is a novel developmentally regulated protease. (PubMed id 9792675)1, 3, 9 Hu S....Dixit V.M. (1998)
  8. Mutational analysis of caspase genes in prostate carc inomas. (PubMed id 20402676)1, 4 Kim M.S....Lee S.H. (2010)
  9. Mutational analysis of CASP1, 2, 3, 4, 5, 6, 7, 8, 9, 10, and 14 genes in gastrointestinal stromal tumors. (PubMed id 19269008)1, 4 Kim Y.R....Lee S.H. (2009)
  10. Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 23581 HGNC: 1502 AceView: CASP14 Ensembl:ENSG00000105141 euGenes: HUgn23581
ECgene: CASP14 H-InvDB: CASP14

(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
NameDescription
PharmGKB entry for CASP14 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CASP14 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for CASP14 gene:
Search GeneIP for patents involving CASP14

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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