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PDCD1 Gene

protein-coding   GIFtS: 62
GCID: GC02M242792

Programmed Cell Death 1

(Previous name: systemic lupus erythematosus susceptibility 2)
(Previous symbol: SLEB2)
Microbiology & Infectious Diseases Congress
  See 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
Programmed Cell Death 11 2     CD2792
SLEB21 2 5     PD-12
Systemic Lupus Erythematosus Susceptibility 21 2     hPD-l2
Protein PD-12 3     hSLE12
PD12 3     Programmed Cell Death Protein 12
hPD-12 3     CD279 Antigen3

External Ids:    HGNC: 87601   Entrez Gene: 51332   Ensembl: ENSG000001883897   OMIM: 6002445   UniProtKB: Q151163   

Export aliases for PDCD1 gene to outside databases

Previous GC identifers: GC02U990074 GC02P241575 GC02P9D0113 GC02M242440 GC02M234541


(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 PDCD1 Gene:
This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in
pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced
in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice
deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive
heart failure. These studies suggest that this gene product may also be important in T cell function and
contribute to the prevention of autoimmune diseases. (provided by RefSeq, Jul 2008)

GeneCards Summary for PDCD1 Gene:
PDCD1 (programmed cell death 1) is a protein-coding gene. Diseases associated with PDCD1 include indolent b cell lymphoma, and nodular lymphocyte predominant hodgkin lymphoma. GO annotations related to this gene include signal transducer activity.

UniProtKB/Swiss-Prot: PDCD1_HUMAN, Q15116
Function: Inhibitory cell surface receptor involved in the regulation of T-cell function during immunity and
tolerance. Upon ligand binding, inhibits T-cell effector functions in an antigen-specific manner. Possible cell
death inducer, in association with other factors

Gene Wiki entry for PDCD1 (Programmed cell death 1) 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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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NT_187527.1  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PDCD1 gene promoter:
         AML1a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for PDCD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PDCD1


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

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

PDCD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PDCD1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M242792:  view genomic region     (about GC identifiers)

Start:
242,792,033 bp from pter      End:
242,801,060 bp from pter
Size:
9,028 bases      Orientation:
minus 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, 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., 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: PDCD1_HUMAN, Q15116 (See protein sequence)
Recommended Name: Programmed cell death protein 1 precursor  
Size: 288 amino acids; 31647 Da
Subunit: Monomer (By similarity)
Developmental stage: Induced at programmed cell death
2 PDB 3D structures from and Proteopedia for PDCD1:
2M2D (3D)        3RRQ (3D)    
Secondary accessions: O00517 Q8IX89

Explore the universe of human proteins at neXtProt for PDCD1: NX_Q15116

Explore proteomics data for PDCD1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn49, Asn58, Asn74, Asn116
  • Modification sites at PhosphoSitePlus

  • See PDCD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005009.2  
    ENSEMBL proteins: 
     ENSP00000335062   ENSP00000390296   ENSP00000340808  
    Reactome Protein details: Q15116

    PDCD1 Human Recombinant Protein Products:

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    Novus Biologicals PDCD1 Proteins
    Novus Biologicals PDCD1 Lysates
    Sino Biological Recombinant Protein for PDCD1
    Sino Biological Cell Lysate for PDCD1
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    Cloud-Clone Corp. Proteins for PDCD1

    PDCD1 Antibody Products:

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    Abcam antibodies for PDCD1
    Cloud-Clone Corp. Antibodies for PDCD1
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    LSBio Antibodies in human, mouse, rat for PDCD1

    PDCD1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for PDCD1
    Cloud-Clone Corp. CLIAs for PDCD1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    VSET: Immunoglobulin superfamily / V-set domain containing

    4 InterPro protein domains:
     IPR003596 Ig_V-set_subgr
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q15116

    ProtoNet protein and cluster: Q15116

    2 Blocks protein domains:
    IPB003596 Immunoglobulin V-type
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: PDCD1_HUMAN, Q15116
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    PDCD1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PDCD1_HUMAN, Q15116
    Function: Inhibitory cell surface receptor involved in the regulation of T-cell function during immunity and
    tolerance. Upon ligand binding, inhibits T-cell effector functions in an antigen-specific manner. Possible cell
    death inducer, in association with other factors

         Genatlas biochemistry entry for PDCD1:
    programmed cell death (apoptosis) 1,mouse PD1 homolog

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity TAS1396582
    GO:0005515protein binding IPI--
         
    PDCD1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PDCD1:
     Increased cell death HMECs cel  Increased cell death in breast 

         13 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Pdcd1):
     cardiovascular system  cellular  endocrine/exocrine gland  hematopoietic system  immune system 
     liver/biliary system  mortality/aging  muscle  nervous system  renal/urinary system 
     skeleton  tumorigenesis  vision/eye 

    PDCD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PDCD1: Pdcd1tm1.1Shr Pdcd1tm1Hon

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PDCD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PDCD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PDCD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PDCD1

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PDCD1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for PDCD1

    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PDCD1 (NM_005018)
    Sino Biological Human cDNA Clone for PDCD1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDCD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDCD1

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDCD1


    (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
    PDCD1_HUMAN, Q15116: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0009897external side of plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    PDCD1 for ontologies           About GeneDecksing


    (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 PDCD1 About    
    See pathways by source

    SuperPathContained pathways About
    1Translocation of ZAP-70 to Immunological synapse
    PD-1 signaling0.72
    2CD28 co-stimulation
    Costimulation by the CD28 family0.44
    3Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    4B cell receptor signaling pathway (KEGG)
    T cell receptor signaling pathway0.38
    5Cell adhesion molecules (CAMs)
    Cell adhesion molecules (CAMs)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for PDCD1
        PD-1 signaling


    2 Kegg Pathways  (Kegg details for PDCD1):
        Cell adhesion molecules (CAMs)
    T cell receptor signaling pathway


    PDCD1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PDCD1: 
              T-Cell Anergy & Immune Tolerance in human mouse rat
              Allergy & Asthma in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PDCD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for PDCD1 (Q151161, 2, 3 ENSP000003350624) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN11Q061242, 3, ENSP000003409444MINT-8035839 I2D: score=1 STRING: ENSP00000340944
    CD274Q9NZQ71, 3, ENSP000003709894EBI-4314328,EBI-4314282 I2D: score=4 STRING: ENSP00000370989
    PTPN6P293502, 3, ENSP000003915924MINT-8035828 I2D: score=1 STRING: ENSP00000391592
    PDCD1LG2Q9BQ513, ENSP000003808554I2D: score=4 STRING: ENSP00000380855
    AGO1Q9UL182, ENSP000003623004MINT-6488488 STRING: ENSP00000362300
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0006959humoral immune response TAS9332365
    GO:0007165signal transduction TAS1396582
    GO:0007275multicellular organismal development TAS9332365
    GO:0031295T cell costimulation TAS--

    PDCD1 for ontologies           About GeneDecksing



    (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 PDCD1

    2 Novoseek inferred chemical compound relationships for PDCD1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    allergens 4.07 1 15959535 (1)
    tyrosine 0 2 17156728 (1), 9141617 (1)



    PDCD1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PDCD1 gene: 
    NM_005018.2  

    Unigene Cluster for PDCD1:

    Programmed cell death 1
    Hs.158297  [show with all ESTs]
    Unigene Representative Sequence: NM_005018
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000334409(uc010fzs.3 uc002wcq.4 uc010fzt.3) ENST00000418831
    ENST00000343705
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat PDCD1
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PDCD1 (NM_005018)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PDCD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PDCD1
    Primer
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    OriGene qPCR primer pairs and template standards for PDCD1
    OriGene qSTAR qPCR primer pairs in human, mouse for PDCD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PDCD1
      QuantiTect SYBR Green Assays in human, mouse, rat PDCD1
      QuantiFast Probe-based Assays in human, mouse, rat PDCD1

    Additional mRNA sequence: 

    AK313848.1 AY206416.1 AY238517.1 AY322430.1 BC074740.2 U64863.1 

    2 DOTS entries:

    DT.402894  DT.100775331 

    9 AceView cDNA sequences:

    AY206416 AY238517 U64863 BX426461 NM_005018 BC074740 BX093686 AI928135 
    AY322430 

    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™, 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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    PDCD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PDCD1 Expression
    About this image


    PDCD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
    PDCD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PDCD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.158297
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PDCD1: 
              T-Cell Anergy & Immune Tolerance in human mouse rat
              Allergy & Asthma in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat PDCD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PDCD1

    (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 PDCD1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pdcd11 , 5 programmed cell death 11, 5 70.16(n)1
    59.09(a)1
      1 (47.47 cM)5
    185661  NM_008798.21  NP_032824.11 
     940383075 
    chicken
    (Gallus gallus)
    Aves PDCD11 programmed cell death 1 50.78(n)
    34.47(a)
      424913  XM_422723.4  XP_422723.3 


    ENSEMBL Gene Tree for PDCD1 (if available)
    TreeFam Gene Tree for PDCD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PDCD1 gene
    1 SIMAP similar gene for PDCD1 using alignment to 3 protein entries:     PDCD1_HUMAN (see all proteins):
    hADV23S1

    PDCD1 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), 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 PDCD1 (see all 351)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1143354701,2
    F--242150420(+) CCCCCG/ACTGCC 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs75684021,2
    C,F--242150442(-) CTCCCC/TAAGTA 1 -- ds500110Minor allele frequency- T:0.35WA NA CSA EA 373
    rs286991771,2
    C,F--242150453(-) TCTGCG/AGGTCC 1 -- ds50013Minor allele frequency- A:0.22NA EA 244
    rs285427281,2
    C,F--242150561(-) GCCCCC/TGTGTC 1 -- ds50013Minor allele frequency- T:0.22NA EA 244
    rs1181170971,2
    C,F--242150616(+) GAAGCC/TTGGGG 1 -- ds50011Minor allele frequency- T:0.01EA 120
    rs285705441,2
    C,F--242150622(-) CCCTGG/ACCCCA 1 -- ds50016Minor allele frequency- A:0.24NA WA EA 364
    rs1180273151,2
    C,F--242150712(+) CGGAGG/AGCTCT 1 -- ds50011Minor allele frequency- A:0.01EA 120
    rs1919198711,2
    --242150728(+) TGAGTA/GGGGCA 1 -- ds50010--------
    rs67075561,2
    C,F,A--242150847(-) CAAGGC/TGGCAG 1 -- ds50011Minor allele frequency- T:0.08WA 118
    rs1429099681,2
    --242151095(+) TACTA-/GGGCCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PDCD1 (242792033 - 242801060 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for PDCD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4501n71CNV Loss21882294
    nsv470533CNV Loss18288195
    dgv4495n71CNV Loss21882294
    dgv4493n71CNV Loss21882294
    nsv876255CNV Loss21882294
    nsv876226CNV Loss21882294
    dgv4500n71CNV Loss21882294
    dgv165e55CNV Loss17911159
    nsv821942CNV Gain20364138
    dgv4499n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): PDCD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PDCD1
    DNA2.0 Custom Variant and Variant Library Synthesis for PDCD1

    (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.)
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    OMIM gene information: 600244   
    OMIM disorders: 605218  126200  
    UniProtKB/Swiss-Prot: PDCD1_HUMAN, Q15116
  • Systemic lupus erythematosus 2 (SLEB2) [MIM:605218]: A chronic, relapsing, inflammatory, and often
    febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin,
    joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the
    regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an
    elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for PDCD1 (see all 105):    
    About MalaCards
    indolent b cell lymphoma    nodular lymphocyte predominant hodgkin lymphoma    congestive heart failure    systemic lupus erythematosus 2
    multiple sclerosis, disease progression, modifier of    cheilitis    tropical spastic paraparesis    actinic cheilitis
    htlv-1 associated myelopathy/tropical spastic paraparesis    htlv-1 associated myelopathy    spastic paraparesis    angioimmunoblastic t-cell lymphoma
    hepatitis b virus infection    progressive multifocal leukoencephalopathy    lymphadenitis    neuromyelitis optica
    takayasu's arteritis    hodgkin's lymphoma    paracoccidioidomycosis    dilated cardiomyopathy

    1 disease from the University of Copenhagen DISEASES database for PDCD1:
    Systemic lupus erythematosus

    PDCD1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    Selected Novoseek inferred disease relationships for PDCD1 gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    infection chronic 59.6 7 17567698 (2), 19828602 (1), 19955307 (1), 16954372 (1)
    autoimmune diseases 55.4 18 11323285 (2), 16265694 (1), 12223069 (1), 17203303 (1) (see all 11)
    autoimmunity 54.6 11 16227150 (1), 15022318 (1), 15912506 (1), 18759926 (1) (see all 6)
    lupus erythematosus systemic 54 25 19220647 (2), 15322919 (2), 17228327 (2), 15352422 (2) (see all 15)
    virus infection 51.6 19 19395117 (2), 19955307 (2), 18822202 (2), 18440040 (1) (see all 12)
    hepatitis b chronic 50.9 9 20121403 (2), 17868872 (2), 17963598 (2), 18680238 (1) (see all 6)
    tumor escape 45.7 1 19380770 (1)
    hepatitis autoimmune 38.8 1 17610472 (1)
    tumors 28.6 41 17363529 (4), 19423728 (3), 20160101 (2), 15297412 (2) (see all 19)
    lupus nephritis 27.7 1 19116915 (1)

    Genetic Association Database (GAD): PDCD1
    Human Genome Epidemiology (HuGE) Navigator: PDCD1 (63 documents)

    Export disorders for PDCD1 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 PDCD1 gene, integrated from 10 sources (see all 374):
    (articles sorted by number of sources associating them with PDCD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. (PubMed id 12402038)1, 2, 3, 4, 9 Prokunina L....Alarcon-Riquelme M.E. (Nat. Genet. 2002)
    2. Structure and chromosomal localization of the human PD-1 gene (PDCD1). (PubMed id 7851902)1, 2, 3 Shinohara T.... Honjo T. (Genomics 1994)
    3. PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children. (PubMed id 17203303)1, 4, 9 Ni R....Hara T. (Hum. Genet. 2007)
    4. Genetic, immunologic, and immunohistochemical analysis of the programmed death 1/programmed death ligand 1 pathway in human systemic lupus erythematosus. (PubMed id 19116915)1, 4, 9 Bertsias G.K....Boumpas D.T. (Arthritis Rheum. 2009)
    5. Trinucleotide repeats of programmed cell death-1 gene are associated with susceptibility to type 1 diabetes mellitus. (PubMed id 17570250)1, 4, 9 Hiromine Y....Ogihara T. (Metab. Clin. Exp. 2007)
    6. No evidence of association of the PDCD1 gene with Type 1 diabetes. (PubMed id 18042085)1, 4, 9 Asad S....Kockum I. (Diabet. Med. 2007)
    7. Association of the programmed cell death 1 (PDCD1) gene polymorphism with ankylosing spondylitis in the Korean population. (PubMed id 17064404)1, 4, 9 Lee S.H....Yang H.I. (amp 2006)
    8. PDCD1: a tissue-specific susceptibility locus for inherited inflammatory disorders. (PubMed id 15959535)1, 4, 9 James E.S....Moffatt M.F. (Genes Immun. 2005)
    9. A PD-1 polymorphism is associated with disease progression in multiple sclerosis. (PubMed id 15912506)1, 4, 9 Kroner A....Wiendl H. (Ann. Neurol. 2005)
    10. [Interactions between susceptible genes and risk environmental factors in Chinese females with systemic lupus erythematosus]. (PubMed id 20388336)1, 4, 9 Peng C.L....Meng W. (Zhonghua Yu Fang Yi Xue Za Zhi 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      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)
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    Entrez Gene: 5133 HGNC: 8760 AceView: PDCD1 Ensembl:ENSG00000188389 euGenes: HUgn5133
    ECgene: PDCD1 Kegg: 5133 H-InvDB: PDCD1

    (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 PDCD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PDCD1 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

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    Patent Information for PDCD1 gene:
    Search GeneIP for patents involving PDCD1

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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