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DPP6 Gene

protein-coding   GIFtS: 59
GCID: GC07P153584

Dipeptidyl-Peptidase 6

(Previous names: dipeptidylpeptidase VI, dipeptidylpeptidase 6)
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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)
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Aliases
Dipeptidyl-Peptidase 61 2     Dipeptidyl Aminopeptidase IV-Related Protein2
Dipeptidylpeptidase 61 2     Dipeptidyl Aminopeptidase-Like Protein 62
Dipeptidyl Peptidase VI2 3     Dipeptidyl Peptidase IV-Related Protein2
DPPX2 3     Dipeptidyl Aminopeptidase-Related Protein3
DPP VI2 3     Dipeptidyl Peptidase 63
VF22 5     Dipeptidyl Peptidase IV-Like Protein3
Dipeptidylpeptidase VI1     

External Ids:    HGNC: 30101   Entrez Gene: 18042   Ensembl: ENSG000001302267   OMIM: 1261415   UniProtKB: P426583   

Export aliases for DPP6 gene to outside databases

Previous GC identifers: GC07P151996 GC07P152248 GC07P153064 GC07P153141 GC07P153187 GC07P153867 GC07P153381 GC07P147386


(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 DPP6 Gene:
This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine
proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved
serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific
voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene
may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular
fibrillation. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Mar 2014)

GeneCards Summary for DPP6 Gene:
DPP6 (dipeptidyl-peptidase 6) is a protein-coding gene. Diseases associated with DPP6 include ventricular fibrillation, paroxysmal familial, 2, and autosomal dominant microcephaly. GO annotations related to this gene include dipeptidyl-peptidase activity and serine-type peptidase activity. An important paralog of this gene is DPP8.

UniProtKB/Swiss-Prot: DPP6_HUMAN, P42658
Function: May be involved in the physiological processes of brain function. Has no dipeptidyl aminopeptidase
activity. May modulate the cell surface expression and the activity of the potassium channel KCND2

Gene Wiki entry for DPP6 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_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DPP6 gene promoter:
         HOXA9   LHX3b/Lhx3b   Pax-6   NRSF form 1   NRSF form 2   Meis-1b   E47   FOXL1   Hand1   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 8): DPP6 promoter sequence
   Search Chromatin IP Primers for DPP6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DPP6


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

Entrez Gene cytogenetic band: 7q36.2   Ensembl cytogenetic band:  7q36.2   HGNC cytogenetic band: 7q36.2

DPP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DPP6 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P153584:  view genomic region     (about GC identifiers)

Start:
153,584,182 bp from pter      End:
154,685,995 bp from pter
Size:
1,101,814 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 152,913,032-153,914,021     

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DPP6_HUMAN, P42658 (See protein sequence)
Recommended Name: Dipeptidyl aminopeptidase-like protein 6  
Size: 865 amino acids; 97588 Da
Subunit: Homodimer. Binds KCND2
Miscellaneous: Genetic variation in DPP6 may influence susceptibility to amyotrophic lateral sclerosis (ALS). ALS
is a severely disabling and lethal disorder caused by progressive degeneration of motor neurons in the brain,
spinal cord and brainstem
1 PDB 3D structure from and Proteopedia for DPP6:
1XFD (3D)    
Alternative splicing: 2 isoforms:  P42658-1   P42658-2   

Explore the universe of human proteins at neXtProt for DPP6: NX_P42658

Explore proteomics data for DPP6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn173, Asn319, Asn404, Asn471, Asn535, Asn566, Asn813
  • Modification sites at PhosphoSitePlus

  • See DPP6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001034439.1  NP_001277181.1  NP_001277182.1  NP_001927.3  NP_570629.2  

    ENSEMBL proteins: 
     ENSP00000385578   ENSP00000384393   ENSP00000367001   ENSP00000328226   ENSP00000397303  

    DPP6 Human Recombinant Protein Products:

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    Novus Biologicals DPP6 Lysates
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    DPP6 Assay Products:

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    Cloud-Clone Corp. CLIAs for DPP6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001375 Peptidase_S9
     IPR002469 Peptidase_S9B

    Graphical View of Domain Structure for InterPro Entry P42658

    ProtoNet protein and cluster: P42658

    1 Blocks protein domain: IPB002469 Dipeptidylpeptidase IV (CD26)

    UniProtKB/Swiss-Prot: DPP6_HUMAN, P42658
    Similarity: Belongs to the peptidase S9B family


    DPP6 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: DPP6_HUMAN, P42658
    Function: May be involved in the physiological processes of brain function. Has no dipeptidyl aminopeptidase
    activity. May modulate the cell surface expression and the activity of the potassium channel KCND2

         Genatlas biochemistry entry for DPP6:
    peptidase,dipeptidyl,related

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008236serine-type peptidase activity IEA--
    GO:0008239dipeptidyl-peptidase activity TAS8103397
         
    DPP6 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Dpp6):
     nervous system 

    DPP6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dpp6tm1.1Dahn for DPP6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DPP6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DPP6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DPP6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DPP6

    miRNA
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    Block miRNA regulation of human, mouse, rat DPP6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DPP6 (see all 21):
    hsa-miR-4307 hsa-miR-502-5p hsa-miR-181c hsa-miR-139-5p hsa-let-7a-2* hsa-miR-218 hsa-miR-374a* hsa-let-7g*
    SwitchGear 3'UTR luciferase reporter plasmidDPP6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DPP6
    Predesigned siRNA for gene silencing in human, mouse, rat DPP6

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): DPP6 (NM_001039350)
    Sino Biological Human cDNA Clone for DPP6
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DPP6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DPP6

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    Browse ESI BIO Cell Lines and PureStem Progenitors for DPP6 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPP6


    (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
    DPP6_HUMAN, P42658: Membrane; Single-pass type II membrane protein (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    DPP6 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DPP6
    Interactions:

        GeneGlobe Interaction Network for DPP6

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

    Selected Interacting proteins for DPP6 (P426583 ENSP000003670014) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRNPP041563I2D: score=2 
    PHBP352323I2D: score=1 
    YWHABP319463I2D: score=1 
    CHMP2AENSP000003104404STRING: ENSP00000310440
    CALM1ENSP000003494674STRING: ENSP00000349467
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0008219cell death IEA--
    GO:0019228neuronal action potential IEA--
    GO:0042391regulation of membrane potential ----
    GO:0043266regulation of potassium ion transport IEA--

    DPP6 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 DPP6

    1 DrugBank Compound for DPP6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-D-Mannose-- 3458-28-4target----

    2 Novoseek inferred chemical compound relationships for DPP6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 27.6 10 15476821 (2), 15454437 (1), 19153714 (1)
    serine 13.8 3 15476821 (2)



    DPP6 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 DPP6 gene (5 alternative transcripts): 
    NM_001039350.2  NM_001290252.1  NM_001290253.1  NM_001936.4  NM_130797.3  

    Unigene Cluster for DPP6:

    Dipeptidyl-peptidase 6
    Hs.490684  [show with all ESTs]
    Unigene Representative Sequence: BC150304
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000404039(uc003wli.3 uc003wlk.3 uc003wlm.3 uc011kvq.2)
    ENST00000406326(uc003wlj.3) ENST00000377770 ENST00000462622(uc010lqh.1)
    ENST00000332007 ENST00000496611 ENST00000427557 ENST00000471100 ENST00000481593
    ENST00000478614 ENST00000493268 ENST00000484789 ENST00000488512 ENST00000479637
    ENST00000480367

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DPP6 (see all 21):
    hsa-miR-4307 hsa-miR-502-5p hsa-miR-181c hsa-miR-139-5p hsa-let-7a-2* hsa-miR-218 hsa-miR-374a* hsa-let-7g*
    SwitchGear 3'UTR luciferase reporter plasmidDPP6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DPP6
    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 (see all 3): DPP6 (NM_001039350)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DPP6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DPP6
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DPP6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DPP6
      QuantiTect SYBR Green Assays in human, mouse, rat DPP6
      QuantiFast Probe-based Assays in human, mouse, rat DPP6

    Additional mRNA sequence: 

    AK293582.1 AK294483.1 BC150304.1 BX647966.1 M96859.1 M96860.1 

    10 DOTS entries:

    DT.414649  DT.95219430  DT.440921  DT.121117482  DT.100666576  DT.121117370  DT.121117587  DT.91640604 
    DT.86840214  DT.91801679 

    Selected AceView cDNA sequences (see all 128):

    BI040394 BF529571 BM931444 AL040127 BI039853 BG911121 AI370936 CB156686 
    R88435 BU151391 BM680874 CR619673 BE549875 AW293710 BM512387 AI332528 
    BV203036 BU781622 F01758 BQ268348 AA349838 BX451459 AI571192 AK131502 

    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 Genevestigator, and/or 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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    DPP6 expression in normal human tissues (normalized intensities)      DPP6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATAAAACA
    DPP6 Expression
    About this image


    DPP6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Osteochondro Mesenchymal Cells Vertebrae
             Intervertebral Disc
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Bone (Muscoskeletal System)
             Osteochondro Mesenchymal Cells Vertebrae
    DPP6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DPP6 Protein Expression

    Genevestigator expression for DPP6

    SOURCE GeneReport for Unigene cluster: Hs.490684

    UniProtKB/Swiss-Prot: DPP6_HUMAN, P42658
    Tissue specificity: Expressed predominantly in brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPP6

    (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 animals.

    Orthologs for DPP6 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dpp61 , 5 dipeptidylpeptidase 61, 5 85.18(n)1
    92.43(a)1
      5 (12.92 cM)5
    134831  NM_207282.31  NP_997165.21 
     268172035 
    chicken
    (Gallus gallus)
    Aves DPP61 dipeptidyl-peptidase 6 76.52(n)
    81.86(a)
      420440  XM_418545.3  XP_418545.2 
    lizard
    (Anolis carolinensis)
    Reptilia DPP66
    dipeptidyl-peptidase 6
    77(a)
    1 ↔ 1
    6(5167105-5421579)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dpp61 dipeptidyl-peptidase 6 69.42(n)
    71.63(a)
      100125080  NM_001102992.1  NP_001096462.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dpp6b1 dipeptidyl-peptidase 6b 63.3(n)
    60.9(a)
      566832  NM_001115122.1  NP_001108594.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T23F1.7a3 dipeptidyl peptidase IV 27(a)
    (best of 3)
      V(15473968-15478599)   --


    ENSEMBL Gene Tree for DPP6 (if available)
    TreeFam Gene Tree for DPP6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DPP6 gene
    DPP82  FAP2  DPP102  DPP92  DPP42  
    3 SIMAP similar genes for DPP6 using alignment to 9 protein entries:     DPP6_HUMAN (see all proteins):
    DPP10    DPP4    FAP

    DPP6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DPP6
    PGOHUM00000233072


    (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 DPP6 (see all 23240)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1930208451,2
    Cuntested1153176681(+) CTGCCA/C/GGGACT 2 -- int10--------
    rs2011709281,2
    Cuntested1157921693(+) CCCCCC/TCCAAA 1 -- int10--------
    rs1404479041,2
    C--152911041(+) TGTCTC/TTCCCT 1 -- us2k10--------
    rs753008371,2
    C--152911138(+) AGCCA-/AAGTCACC 1 -- cds10--------
    rs1501660001,2
    --152911167(+) GAGAGC/GTGCCT 1 -- us2k10--------
    rs1999871301,2
    --152911170(+) AGGTG-/CCTTTC 1 -- us2k10--------
    rs2002993021,2
    --152911178(+) TTCCT-/CACAC 
            
    CATGT
    1 -- us2k10--------
    rs1880398741,2
    --152911262(+) ACCTTA/GGTCTT 1 -- us2k10--------
    rs1389711141,2
    --152911287(+) CAGAAA/CTGTGA 1 -- us2k10--------
    rs1413156961,2
    --152911349(+) CACAGC/TCAGAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DPP6 (153584182 - 153834182 bp, first 250kb of DPP6)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DPP6 (see all 164):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2735521CNV Deletion23290073
    esv2735515CNV Deletion23290073
    esv2735522CNV Deletion23290073
    esv2602761CNV Deletion19546169
    esv2735507CNV Deletion23290073
    esv4397CNV Deletion18987735
    esv2735505CNV Deletion23290073
    esv2735496CNV Deletion23290073
    esv5151CNV Deletion18987735
    esv2735510CNV Deletion23290073

    Human Gene Mutation Database (HGMD): DPP6
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing DPP6
    DNA2.0 Custom Variant and Variant Library Synthesis for DPP6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 126141   
    OMIM disorders: 612956  
    UniProtKB/Swiss-Prot: DPP6_HUMAN, P42658
  • Familial paroxysmal ventricular fibrillation 2 (VF2) [MIM:612956]: A cardiac arrhythmia marked by
    fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without
    coordinated contraction of the ventricle and by absence of atrial activity. Note=The disease is caused by
    mutations affecting the gene represented in this entry. A genetic variation 340 bases upstream from the ATG start
    site of the DPP6 gene is the cause of familial paroxysmal ventricular fibrillation type 2

  • Selected diseases for DPP6 (see all 25):    About MalaCards
    ventricular fibrillation, paroxysmal familial, 2    autosomal dominant microcephaly    paroxysmal ventricular fibrillation    ventricular fibrillation, familial, 1
    progressive muscular atrophy    muscular atrophy    tardive dyskinesia    spinal muscular atrophy
    encephalitis    amyotrophic lateral sclerosis    lateral sclerosis    acute myeloid leukemia
    type 1 diabetes    myeloid leukemia    multiple sclerosis    pancreatic cancer
    pancreatitis    cervicitis    leukemia    retinitis

    1 disease from the University of Copenhagen DISEASES database for DPP6:
    Amyotrophic lateral sclerosis

    DPP6 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): DPP6
    Human Genome Epidemiology (HuGE) Navigator: DPP6 (14 documents)

    Export disorders for DPP6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DPP6 gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with DPP6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. (PubMed id 18084291)1, 2, 4 van Es M.A.... van den Berg L.H. (Nat. Genet. 2008)
    2. Structure of a human A-type potassium channel interacting protein DPPX, a member of the dipeptidyl aminopeptidase family. (PubMed id 15476821)1, 2, 9 Strop P.... Brunger A.T. (J. Mol. Biol. 2004)
    3. Screening for replication of genome-wide SNP associations in sporadic ALS. (PubMed id 18987618)1, 4, 9 Cronin S....Hardiman O. (Eur. J. Hum. Genet. 2009)
    4. Non-conservation of a catalytic residue in a dipeptidyl aminopeptidase IV-related protein encoded by a gene on human chromosome 7. (PubMed id 8103397)1, 2, 9 Yokotani N.... Wada K. (Hum. Mol. Genet. 1993)
    5. DPP6 as a candidate gene for neuroleptic-induced tardive dyskinesia. (PubMed id 21826085)1, 4 Tanaka S....Arinami T. (Pharmacogenomics J. 2013)
    6. No association of DPP6 with amyotrophic lateral sclerosis in an Italian population. (PubMed id 19525032)1, 4 Fogh I....Silani V. (Neurobiol. Aging 2011)
    7. Genome-wide association study of pancreatic cancer in Japanese population. (PubMed id 20686608)1, 4 Low S.K....Sakamoto H. (PLoS ONE 2010)
    8. A large genome scan for rare CNVs in amyotrophic lateral sclerosis. (PubMed id 20685689)1, 4 Blauw H.M....van den Berg L.H. (Hum. Mol. Genet. 2010)
    9. Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis. (PubMed id 20001489)1, 4 Daoud H....Rouleau G.A. (Amyotroph Lateral Scler 2010)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (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)
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    Entrez Gene: 1804 HGNC: 3010 AceView: DPP6 Ensembl:ENSG00000130226 euGenes: HUgn1804
    ECgene: DPP6 H-InvDB: DPP6

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for DPP6 Pharmacogenomics, SNPs, Pathways

    (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 DPP6 gene:
    Search GeneIP for patents involving DPP6

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



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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