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CARD14 Gene

protein-coding   GIFtS: 51
GCID: GC17P078152

Caspase Recruitment Domain Family, Member 14

(Previous name: psoriasis susceptibility 2)
(Previous symbol: PSORS2)
  See CARD14-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Caspase Recruitment Domain Family, Member 141 2     PRP2 5
PSORS21 2 5     PSS12 5
CARMA22 3 5     Psoriasis Susceptibility 21
Carma 22 3     Bcl10-Interacting Maguk Protein 22
CARD-Containing MAGUK Protein 22 3     Card-Maguk Protein 22
BIMP22 5     Caspase Recruitment Domain-Containing Protein 142

External Ids:    HGNC: 164461   Entrez Gene: 790922   Ensembl: ENSG000001415277   OMIM: 6072115   UniProtKB: Q9BXL63   

Export aliases for CARD14 gene to outside databases

Previous GC identifers: GC17M077760 GC17P081455 GC17P078714 GC17P078852 GC17P078843 GC17P075766 GC17P073593


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CARD14 Gene:
This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated
guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are
involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell
polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as
a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple
transcript variants. (provided by RefSeq, Apr 2012)

GeneCards Summary for CARD14 Gene:
CARD14 (caspase recruitment domain family, member 14) is a protein-coding gene. Diseases associated with CARD14 include pityriasis rubra pilaris, and psoriasis susceptibility 2. GO annotations related to this gene include CARD domain binding. An important paralog of this gene is CARD10.

UniProtKB/Swiss-Prot: CAR14_HUMAN, Q9BXL6
Function: Plays a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis.
Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10

Gene Wiki entry for CARD14 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CARD14 gene promoter:
         Lmo2   NF-kappaB1   NF-kappaB   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): CARD14 promoter sequence
   Search Chromatin IP Primers for CARD14

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CARD14


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

Entrez Gene cytogenetic band: 17q25   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25

CARD14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CARD14 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P078152:  view genomic region     (about GC identifiers)

Start:
78,143,791 bp from pter      End:
78,183,130 bp from pter
Size:
39,340 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CAR14_HUMAN, Q9BXL6 (See protein sequence)
Recommended Name: Caspase recruitment domain-containing protein 14  
Size: 1004 amino acids; 113270 Da
Subunit: Interacts with BCL10 by CARD-CARD interaction. Interacts with TRAF2, TRAF3 and TRAF6
Caution: Supposed to contain a SH3 domain which is not detected by PROSITE, Pfam or SMART
Secondary accessions: B8QQJ3 Q9BVB5
Alternative splicing: 3 isoforms:  Q9BXL6-1   Q9BXL6-2   Q9BXL6-3   

Explore the universe of human proteins at neXtProt for CARD14: NX_Q9BXL6

Explore proteomics data for CARD14 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CARD14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001244899.1  NP_077015.2  NP_438170.1  

    ENSEMBL proteins: 
     ENSP00000461447   ENSP00000458715   ENSP00000459244   ENSP00000460883   ENSP00000461806  
     ENSP00000460405   ENSP00000344549   ENSP00000376229  

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    Novus Biologicals CARD14 Proteins
    Novus Biologicals CARD14 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CARD14

     
    Search eBioscience for Proteins for CARD14 

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    LSBio Antibodies in human, mouse, rat for CARD14

    CARD14 Assay Products:

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    Search eBioscience for ELISAs for CARD14 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR008144 Guanylate_kin-like
     IPR008145 GK/Ca_channel_bsu
     IPR011029 DEATH-like_dom
     IPR027417 P-loop_NTPase
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry Q9BXL6

    ProtoNet protein and cluster: Q9BXL6

    2 Blocks protein domains:
    IPB001315 CARD interaction domain
    IPB001478 PDZ/DHR/GLGF domain


    UniProtKB/Swiss-Prot: CAR14_HUMAN, Q9BXL6
    Similarity: Contains 1 CARD domain
    Similarity: Contains 1 guanylate kinase-like domain
    Similarity: Contains 1 PDZ (DHR) domain


    Find genes that share domains with CARD14           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAR14_HUMAN, Q9BXL6
    Function: Plays a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis.
    Activates NF-kappa-B via BCL10 and IKK. Stimulates the phosphorylation of BCL10

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0050700CARD domain binding IPI11278692
         
    Find genes that share ontologies with CARD14           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Card14 (no phenotypes)

    Find genes that share phenotypes with CARD14           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Card14tm1Lex for CARD14

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CARD14
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CARD14

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CARD14
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CARD14

    miRNA
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    miRTarBase miRNAs that target CARD14:
    hsa-mir-124-3p (MIRT022735), hsa-mir-26b-5p (MIRT029698)

    Block miRNA regulation of human, mouse, rat CARD14 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CARD14
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): CARD14 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CARD14

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    GenScript: all cDNA clones in your preferred vector (see all 2): CARD14 (NM_052819)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CARD14
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CARD14

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CARD14 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CARD14


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CAR14_HUMAN, Q9BXL6: Isoform 1: Cytoplasm
    CAR14_HUMAN, Q9BXL6: Isoform 2: Cytoplasm
    CAR14_HUMAN, Q9BXL6: Isoform 3: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IDA11278692
    GO:0005886plasma membrane NAS11278692
    GO:0016235aggresome ----

    Find genes that share ontologies with CARD14           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CARD14 About    
    See pathways by source

    SuperPathContained pathways About
    1NF-KappaB Family Pathway
    NF-KappaB Family Pathway0.72
    2TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CARD14
        PKC-Theta Pathway
    NF-KappaB Family Pathway


        Pathway & Disease-focused RT2 Profiler PCR Array including CARD14: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CARD14

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for CARD14 (Q9BXL62, 3 ENSP000003445494) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIP13Q156452, 3, ENSP000001663454MINT-66683 I2D: score=4 STRING: ENSP00000166345
    BCL10O959993I2D: score=2 
    ZNF471Q9BX823I2D: score=1 
    GTPBP2ENSP000003039974STRING: ENSP00000303997
    DTNAENSP000003820644STRING: ENSP00000382064
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation IDA11278692
    GO:0006915apoptotic process IEA--
    GO:0007250activation of NF-kappaB-inducing kinase activity NAS11278692
    GO:0033209tumor necrosis factor-mediated signaling pathway IMP--
    GO:0042981regulation of apoptotic process ----

    Find genes that share ontologies with CARD14           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CARD14 (CAR14)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CARD14 gene (3 alternative transcripts): 
    NM_001257970.1  NM_024110.4  NM_052819.2  

    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000576785 ENST00000573489 ENST00000573882(uc002jxt.1) ENST00000575465
    ENST00000575500 ENST00000571427(uc002jxu.1) ENST00000570421(uc002jxv.3)
    ENST00000572838 ENST00000571450 ENST00000573754(uc002jxx.3) ENST00000571861
    ENST00000574148 ENST00000575666(uc010dhu.1) ENST00000344227(uc002jxw.1 uc010wud.1)
    ENST00000392434
    miRNA
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CARD14
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    GenScript: all cDNA clones in your preferred vector (see all 2): CARD14 (NM_052819)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CARD14
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CARD14
    Primer
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    OriGene qPCR primer pairs and template standards for CARD14
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CARD14
      QuantiTect SYBR Green Assays in human, mouse, rat CARD14
      QuantiFast Probe-based Assays in human, mouse, rat CARD14

    Selected AceView cDNA sequences (see all 33):

    AK095416 BU956261 BI040409 AI291007 BC001326 BE891229 BC018142 NM_052819 
    AY032927 AK002138 AX746790 AI950942 AK054723 AF322642 BX477520 AW150635 
    AK091123 NM_024110 BE543447 AW573094 AW341258 AI559852 BU617627 AU138832 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CARD14 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a ·
    SP1:                    -     -                                   -     -           -                                   -                       -               
    SP2:                    -     -                                   -     -           -           -                       -                       -               
    SP3:                    -     -                                   -     -           -                                   -                       -               
    SP4:                                                                    -           -                                   -                       -               
    SP5:                                                                                                                                                            

    ExUns: 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a · 24b
    SP1:  -                 -                 -                                 
    SP2:  -                 -                                                   
    SP3:  -                                                                     
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for CARD14

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CARD14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCCCTTG
    CARD14 Expression
    About this image

    CARD14 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CARD14 Protein Expression

    UniProtKB/Swiss-Prot: CAR14_HUMAN, Q9BXL6
    Tissue specificity: Isoform 1 is detected in placenta and epidermal keratinocytes. Isoform 2 is detected in
    leukocytes and fetal brain

        Pathway & Disease-focused RT2 Profiler PCR Array including CARD14: 
              Apoptosis 384HT in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for CARD14
    OriGene qSTAR qPCR primer pairs in human, mouse for CARD14
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CARD14
    QuantiTect SYBR Green Assays in human, mouse, rat CARD14
    QuantiFast Probe-based Assays in human, mouse, rat CARD14
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CARD14

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CARD14 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Card141 , 5 caspase recruitment domain family, member 141, 5 79.99(n)1
    77.74(a)1
      11 (83.36 cM)5
    1707201  NM_130886.31  NP_570956.11 
     1193077685 
    lizard
    (Anolis carolinensis)
    Reptilia CARD146
    caspase recruitment domain family, member 14
    56(a)
    1 ↔ 1
    2(100559158-100582101)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia card141 caspase recruitment domain family, member 14 54.86(n)
    46.93(a)
      100486738  XM_002937309.2  XP_002937355.2 
    zebrafish
    (Danio rerio)
    Actinopterygii card141 caspase recruitment domain family, member 14 47.66(n)
    37.15(a)
      568689  XM_692035.4  XP_697127.4 


    ENSEMBL Gene Tree for CARD14 (if available)
    TreeFam Gene Tree for CARD14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CARD14 gene
    CARD102  CARD112  CARD92  
    1 SIMAP similar gene for CARD14 using alignment to 6 protein entries:     CAR14_HUMAN (see all proteins):
    CARD11

    Find genes that share paralogs with CARD14           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CARD14 (see all 1286)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0688204
    Pityriasis rubra pilaris (PRP)4--see VAR_0688202 L P mis40--------
    rs1155826201,2,,4
    C,Funtested179264250(+) CCCCCG/AGCTCA 5 /Q /R mis11Minor allele frequency- A:0.03WA 118
    rs1462146391,2,,4
    C,Funtested179266639(+) GCTGCT/GGCGGC 5 /R /L mis11Minor allele frequency- G:0.00NA 3322
    rs1995174691,2,,4
    Cuntested179266726(+) CAGCCA/GCATGA 5 H R mis10--------
    rs1146884461,2,,4
    C,Funtested179266789(+) GCTCAA/G/TCCTCT 5 N S mis13WA NA EU 3469
    rs1179180771,2,,4
    C,Funtested179284946(+) ACATCC/TGGGTC 5 R W mis13Minor allele frequency- T:0.01NA EU 5993
    rs1511509611,2,,4
    C,Funtested179285042(+) GCTGCG/AGCTGC 5 /S /G mis12Minor allele frequency- A:0.00NA EU 5857
    rs1442852371,2,,4
    C,Funtested179290949(+) CCTGAC/GGGCTG 3 D E mis11Minor allele frequency- G:0.00NA 3634
    rs556988041,2
    C--78143701(+) GTCTA-/GCTGTG 1 -- us2k11Minor allele frequency- G:0.00CSA 2
    rs112900271,2
    C--78150239(+) AAAAA-/A/AA  
            
    GGAAG
    1 -- int1 trp32NA 4

    HapMap Linkage Disequilibrium report for CARD14 (78143791 - 78183130 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CARD14 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1007097CNV Deletion20482838
    esv2716361CNV Deletion23290073
    esv2716360CNV Deletion23290073
    esv2716364CNV Deletion23290073
    esv2716359CNV Deletion23290073
    nsv457968CNV Loss19166990
    nsv833562CNV Loss17160897
    nsv908982CNV Loss21882294
    dgv3298n71CNV Loss21882294
    nsv908974CNV Loss21882294

    Human Gene Mutation Database (HGMD): CARD14
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CARD14
    DNA2.0 Custom Variant and Variant Library Synthesis for CARD14

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

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    OMIM gene information: 607211   
    OMIM disorders: 602723  173200  
    UniProtKB/Swiss-Prot: CAR14_HUMAN, Q9BXL6
  • Psoriasis 2 (PSORS2) [MIM:602723]: A common, chronic inflammatory disease of the skin with multifactorial
    etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions
    are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and
    epidermis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry
  • Pityriasis rubra pilaris (PRP) [MIM:173200]: A rare, papulosquamous skin disease characterized by the
    appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine
    powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases
    are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable
    expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic
    course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and
    erythema. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for CARD14:    
    About MalaCards
    pityriasis rubra pilaris    psoriasis susceptibility 2    psoriasis


    Find genes that share disorders with CARD14           About GenesLikeMe

    Genetic Association Database (GAD): CARD14
    Human Genome Epidemiology (HuGE) Navigator: CARD14 (4 documents)

    Export disorders for CARD14 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

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    PubMed articles for CARD14 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with CARD14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PSORS2 is due to mutations in CARD14. (PubMed id 22521418)1, 2, 3 Jordan C.T.... Bowcock A.M. (Am. J. Hum. Genet. 2012)
    2. CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with Bcl10 and activate NF-kappaB. (PubMed id 11278692)1, 2, 3 Bertin J.... Alnemri E.S. (J. Biol. Chem. 2001)
    3. Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappaB activation. (PubMed id 11356195)1, 2, 3 Gaide O.... Tschopp J. (FEBS Lett. 2001)
    4. Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis. (PubMed id 22521419)1, 2 Jordan C.T.... Bowcock A.M. (Am. J. Hum. Genet. 2012)
    5. Familial pityriasis rubra pilaris is caused by mutations in CARD14. (PubMed id 22703878)1, 2 Fuchs-Telem D.... Sprecher E. (Am. J. Hum. Genet. 2012)
    6. Alternative splicing of CARMA2/CARD14 transcripts generates protein variants with differential effect on NF-kappaB activation and endoplasmic reticulum stress-induced cell death. (PubMed id 21302310)1, 2 Scudiero I....Stilo R. (J. Cell. Physiol. 2011)
    7. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (Am. J. Hypertens. 2010)
    8. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (Int. J. Mol. Med. 2010)
    9. 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. (Genome Res. 2004)
    10. SNP rs11652075 in the CARD14 gene as a risk factor for psoriasis (PSORS2) in a Spanish cohort. (PubMed id 23905699)1 GonzA!lez-Lara L....Coto E. (DNA Cell Biol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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

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    Entrez Gene: 79092 HGNC: 16446 AceView: CARD14 Ensembl:ENSG00000141527 euGenes: HUgn79092
    ECgene: CARD14 H-InvDB: CARD14

    (According to HUGE)
    About This Section

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      --

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

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    NameDescription
    PharmGKB entry for CARD14 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CARD14 gene:
    Search GeneIP for patents involving CARD14

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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