Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CPA6 Gene

protein-coding   GIFtS: 58
GCID: GC08M068384

Carboxypeptidase A6

  See CPA6-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)
About This Section

TryGeneCards Plus

Aliases
Carboxypeptidase A61 2     FEB112 5
CPAH2 3 5     EC 3.4.17.13
Carboxypeptidase B2 3     EC 3.4.178
ETL52 5     

External Ids:    HGNC: 172451   Entrez Gene: 570942   Ensembl: ENSG000001650787   OMIM: 6095625   UniProtKB: Q8N4T03   

Export aliases for CPA6 gene to outside databases

Previous GC identifers: GC08M067463 GC08M068273 GC08M068057 GC08M068496 GC08M063826


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for CPA6 Gene:
The protein encoded by this gene belongs to the family of carboxypeptidases, which catalyze the release of
C-terminal amino acid, and have functions ranging from digestion of food to selective biosynthesis of
neuroendocrine peptides. Polymorphic variants and a reciprocal translocation t(6;8)(q26;q13) involving this gene,
have been associated with Duane retraction syndrome.(provided by RefSeq, Sep 2010)

GeneCards Summary for CPA6 Gene:
CPA6 (carboxypeptidase A6) is a protein-coding gene. Diseases associated with CPA6 include epilepsy, familial temporal lobe, 5, and febrile seizures, familial, 11. GO annotations related to this gene include metallocarboxypeptidase activity. An important paralog of this gene is CPO.

UniProtKB/Swiss-Prot: CBPA6_HUMAN, Q8N4T0
Function: May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May
convert inactive angiotensin I into the biologically active angiotensin II

Gene Wiki entry for CPA6 (Carboxypeptidase A6) 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_008183.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CPA6 gene promoter:
         TBP   STAT1   FOXD3   STAT1beta   STAT1alpha   HSF2   FOXJ2 (long isoform)   STAT3   Cart-1   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCPA6 promoter sequence
   Search Chromatin IP Primers for CPA6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CPA6


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

Entrez Gene cytogenetic band: 8q13.2   Ensembl cytogenetic band:  8q13.2   HGNC cytogenetic band: 8q12.3

CPA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPA6 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M068384:  view genomic region     (about GC identifiers)

Start:
68,334,360 bp from pter      End:
68,658,620 bp from pter
Size:
324,261 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, 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CBPA6_HUMAN, Q8N4T0 (See protein sequence)
Recommended Name: Carboxypeptidase A6 precursor  
Size: 437 amino acids; 51008 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Secondary accessions: Q8NEX8 Q8TDE8 Q9NRI9
Alternative splicing: 3 isoforms:  Q8N4T0-1   Q8N4T0-2   Q8N4T0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CPA6: NX_Q8N4T0

Explore proteomics data for CPA6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn89, Asn153, Asn427
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for CPA6 (Q8N4T0)
     FELRDTG  PESEPEV  AFCQWFV  GIHAREW 


    See CPA6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065094.3  
    ENSEMBL proteins: 
     ENSP00000419016   ENSP00000297770   ENSP00000431112   ENSP00000297769  

    CPA6 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for CPA6
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CPA6
    GenScript Custom Purified and Recombinant Proteins Services for CPA6
    Novus Biologicals CPA6 Protein
    Novus Biologicals CPA6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CPA6

     
    Search eBioscience for Proteins for CPA6 

    CPA6 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CPA6
    Novus Biologicals CPA6 Antibody
    Abcam antibodies for CPA6
    Cloud-Clone Corp. Antibodies for CPA6
    Search ThermoFisher Antibodies for CPA6
    LSBio Antibodies in human, mouse, rat for CPA6

    CPA6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CPA6
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CPA6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CPA6
    Cloud-Clone Corp. CLIAs for CPA6
    Search eBioscience for ELISAs for CPA6 


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

    TryGeneCards Plus
    IUPHAR Guide to PHARMACOLOGY protein family classification: Carboxypeptidase A6
    Metallocarboxypeptidases

    3 InterPro protein domains:
     IPR003146 Prot_inh_M14A
     IPR000834 Peptidase_M14
     IPR009020 Prot_inh_propept

    Graphical View of Domain Structure for InterPro Entry Q8N4T0

    ProtoNet protein and cluster: Q8N4T0

    2 Blocks protein domains:
    IPB000834 Zinc carboxypeptidase A metalloprotease (M14)
    IPB003146 Carboxypeptidase activation peptide


    UniProtKB/Swiss-Prot: CBPA6_HUMAN, Q8N4T0
    Similarity: Belongs to the peptidase M14 family


    Find genes that share domains with CPA6           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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CBPA6_HUMAN, Q8N4T0
    Function: May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May
    convert inactive angiotensin I into the biologically active angiotensin II
    Catalytic activity: Release of a C-terminal amino acid, but little or no action with -Asp, -Glu, -Arg, -Lys or
    -Pro

         Enzyme Numbers (IUBMB): EC 3.4.172 EC 3.4.17.11

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004180carboxypeptidase activity ----
    GO:0004181metallocarboxypeptidase activity NAS11836249
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with CPA6           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CPA6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CPA6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CPA6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CPA6

    miRNA
    Products:
        
    miRTarBase miRNAs that target CPA6:
    hsa-mir-124-3p (MIRT022945)

    Block miRNA regulation of human, mouse, rat CPA6 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CPA6:
    hsa-miR-526b hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidCPA6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CPA6
    Predesigned siRNA for gene silencing in human, mouse, rat CPA6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CPA6

    Clone
    Products:
         
    OriGene clones in human, mouse for CPA6 (see all 7)
    OriGene ORF clones in mouse, rat for CPA6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CPA6 (NM_020361)
    Sino Biological Human cDNA Clone for CPA6
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPA6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPA6

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CPA6
    Browse ESI BIO Cell Lines and PureStem Progenitors for CPA6 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPA6


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CBPA6_HUMAN, Q8N4T0: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus2
    mitochondrion2
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--

    Find genes that share ontologies with CPA6           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).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CPA6
    Interactions:

        Search GeneGlobe Interaction Network for CPA6

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for CPA6 (ENSP000002977704) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CELA2AENSP000003526394STRING: ENSP00000352639
    CELA2BENSP000003650754STRING: ENSP00000365075
    CELA3BENSP000003383694STRING: ENSP00000338369
    CTRCENSP000003651164STRING: ENSP00000365116
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----

    Find genes that share ontologies with CPA6           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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CPA6 (CBPA6)

    5 HMDB Compounds for CPA6    About this table
    CompoundSynonyms CAS #PubMed Ids
    KinetensinIle-Ala-Arg-Arg-His-Pro-Tyr-Phe-Leu 103131-69-7--
    Kinetensin 1-8Ile-Ala-Arg-Arg-His-Pro-Tyr-Phe;KT(1-8) 51833-69-3--
    Neuromedin NIle-Pro-Tyr-Ile-Leu;NN 102577-25-3--
    Neuromedin N (1-4)Ile-Pro-Tyr-Ile ----
    ZincZinc (see all 2)7440-66-6--

    Selected Novoseek inferred chemical compound relationships for CPA6 gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epsilon aminocaproic acid 78.6 8 8112348 (1), 17606760 (1), 9102401 (1), 1677272 (1) (see all 7)
    deae-sephadex a-25 74.6 1 8765230 (1)
    lysine 70.3 23 8112348 (2), 11071275 (1), 11442827 (1), 15737740 (1) (see all 16)
    trypsinogen 64.5 7 11167870 (2), 16437625 (2), 15211118 (2), 15850341 (1)
    c-peptide 44.9 6 1414126 (1), 8862001 (1), 14614535 (1), 16894482 (1)
    fibrinogen 32.6 1 11012092 (1)
    pcbs 30.2 3 1370825 (1), 8322019 (1)
    arginine 28.8 8 8244278 (1), 2096887 (1), 1952934 (1), 8428004 (1) (see all 6)
    agarose 10.9 2 9058653 (1), 10885198 (1)
    cysteine 0.887 1 10861591 (1)



    Find genes that share compounds with CPA6           About GenesLikeMe



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for CPA6 gene (2 alternative transcripts): 
    NM_020361.4  NM_001127445.1  

    Unigene Cluster for CPA6:

    Carboxypeptidase A6
    Hs.658850  [show with all ESTs]
    Unigene Representative Sequence: NM_020361
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000479862 ENST00000297770(uc003xxq.4) ENST00000518549(uc003xxs.2)
    ENST00000297769(uc003xxr.4)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CPA6 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate CPA6:
    hsa-miR-526b hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidCPA6 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CPA6
    Predesigned siRNA for gene silencing in human, mouse, rat CPA6
    Clone
    Products:
         
    OriGene clones in human, mouse for CPA6 (see all 7)
    OriGene ORF clones in mouse, rat for CPA6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CPA6 (NM_020361)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CPA6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPA6
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CPA6
    OriGene qSTAR qPCR primer pairs in human, mouse for CPA6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CPA6
      QuantiTect SYBR Green Assays in human, mouse, rat CPA6
      QuantiFast Probe-based Assays in human, mouse, rat CPA6

    Additional mRNA sequence: 

    AF221594.1 AY044833.1 BC033684.1 

    3 DOTS entries:

    DT.206265  DT.100695623  DT.206266 

    9 AceView cDNA sequences:

    BK000188 BI756197 H86480 NM_020361 AF221594 BC033684 BI758481 H84399 
    BF445564 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CPA6    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b
    SP1:                                                  -                           
    SP2:                                                                              
    SP3:              -                                   -     -     -               


    ECgene alternative splicing isoforms for CPA6

    (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)
    About This Section

    TryGeneCards Plus

    CPA6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTCAATTA
    CPA6 Expression
    About this image


    CPA6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Chondrocytes Zeugopod Epiphyseal End
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Larynx (Respiratory System)
    CPA6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CPA6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.658850

    UniProtKB/Swiss-Prot: CBPA6_HUMAN, Q8N4T0
    Tissue specificity: Expressed in the hippocampus, nucleus raphe, and cortex

        Custom PCR Arrays for CPA6
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CPA6
    OriGene qSTAR qPCR primer pairs in human, mouse for CPA6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CPA6
    QuantiTect SYBR Green Assays in human, mouse, rat CPA6
    QuantiFast Probe-based Assays in human, mouse, rat CPA6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPA6

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for CPA6 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpa61 , 5 carboxypeptidase A61, 5 86.35(n)1
    84.44(a)1
      1 (2.45 cM)5
    3290931  NM_177834.31  NP_808502.21 
     103247205 
    chicken
    (Gallus gallus)
    Aves CPA61 carboxypeptidase A6 77.81(n)
    82.58(a)
      420171  NM_001006344.1  NP_001006344.1 
    lizard
    (Anolis carolinensis)
    Reptilia CPA66
    carboxypeptidase A6
    77(a)
    1 ↔ 1
    4(31270630-31336264)
    African clawed frog
    (Xenopus laevis)
    Amphibia cpa6-prov2 carboxypeptidase A6 75.95(n)    BC041315.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000023421 carboxypeptidase A6-like 67.16(n)
    69.29(a)
      100002342  XM_001342113.5  XP_001342149.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG30971 CG3097 42.94(n)
    35.45(a)
      31503  NM_132031.2  NP_572259.1 


    ENSEMBL Gene Tree for CPA6 (if available)
    TreeFam Gene Tree for CPA6 (if available)

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

    TryGeneCards Plus
    Paralogs for CPA6 gene
    CPO2  CPA22  CPA12  CPB12  CPA32  CPA52  CPB22  CPA42  
    9 SIMAP similar genes for CPA6 using alignment to 2 protein entries:     CBPA6_HUMAN (see all proteins):
    DKFZp779K1333    CPA3    CPB1    CPO    CPA4    CPA2
    CPA1    CPB2    CPA5

    Find genes that share paralogs with CPA6           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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CPA6 (see all 6753)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1144026781,2,,4
    C,FFebrile seizures, familial, 11 (FEB11)4 --68497357(+) TATTGG/ACATCC 2 /A /V mis12Minor allele frequency- A:0.00WA NA 4668
    VAR_0669464
    Epilepsy, familial temporal lobe, 5 (ETL5)4--see VAR_0669462 G R mis40--------
    rs3714577591,2
    C--64117521(+) GTGTG-/TGTGTATATATATATA
    TATATATATATATATATA
    TATAT
    1 -- int10--------
    rs1399723041,2
    C--64138894(+) ACATT-/AAGAAGAT 1 -- cds10--------
    rs559310811,2
    C--68348742(+) ATAGCA/GAGAAC 1 -- int10--------
    rs562416201,2
    C--68349283(+) CATCCC/TGGAGA 1 -- int10--------
    rs113820491,2
    C--68351001(+) GAAAAA/-TAAAG 1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1998572291,2
    C--68351824(+) AAAAA-/AAGAAAG 1 -- int10--------
    rs575850531,2
    C--68360830(+) CACTGC/-CATTC 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs358034541,2
    C--68362046(+) TCTCTT/-TTTTT 1 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for CPA6 (68334360 - 68584360 bp, first 250kb of CPA6)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CPA6 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2737122CNV Deletion23290073
    esv2667205CNV Deletion23128226
    esv2664813CNV Deletion23128226
    esv2662574CNV Deletion23128226
    esv2421618CNV Deletion20811451
    esv268044CNV Insertion20981092
    nsv6240CNV Insertion18451855
    esv26383CNV Loss19812545
    nsv515097CNV Loss21397061
    nsv8359CNV Loss18304495

    Human Gene Mutation Database (HGMD): CPA6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CPA6
    DNA2.0 Custom Variant and Variant Library Synthesis for CPA6

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

    TryGeneCards Plus
    OMIM gene information: 609562   
    OMIM disorders: 614417  614418  
    UniProtKB/Swiss-Prot: CBPA6_HUMAN, Q8N4T0
  • Note=A chromosomal aberration involving CPA6 was found in a patient with Duane retraction syndrome.
    Translocation t(6;8)(q26;q13)
  • Epilepsy, familial temporal lobe, 5 (ETL5) [MIM:614417]: A focal form of epilepsy characterized by
    recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory
    symptoms, most often auditory in nature. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Febrile seizures, familial, 11 (FEB11) [MIM:614418]: Seizures associated with febrile episodes in
    childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common
    condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures
    (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex
    febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure
    in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex
    febrile seizures are associated with a moderately increased incidence of epilepsy. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 4 diseases for CPA6:    
    About MalaCards
    epilepsy, familial temporal lobe, 5    febrile seizures, familial, 11    duane retraction syndrome    febrile seizures

    1 disease from the University of Copenhagen DISEASES database for CPA6:
    Acute pancreatitis

    Find genes that share disorders with CPA6           About GenesLikeMe

    3 Novoseek inferred disease relationships for CPA6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acute pancreatitis 54.2 11 16437625 (2), 15211118 (2), 18849642 (1), 9505893 (1) (see all 8)
    pancreatitis 9.81 1 15850341 (1)
    alzheimers disease 0 1 12705322 (1)

    Genetic Association Database (GAD): CPA6
    Human Genome Epidemiology (HuGE) Navigator: CPA6 (144 documents)

    Export disorders for CPA6 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

    TryGeneCards Plus

    PubMed articles for CPA6 gene, integrated from 10 sources (see all 135):
    (articles sorted by number of sources associating them with CPA6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of three members of the human metallocarboxypeptidase gene family. (PubMed id 11836249)1, 2, 3 Wei S.... Fricker L.D. (J. Biol. Chem. 2002)
    2. Characterization of carboxypeptidase A6, an extracellular matrix peptidase. (PubMed id 18178555)1, 2, 9 Lyons P.J.... Fricker L.D. (J. Biol. Chem. 2008)
    3. A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient. (PubMed id 12454025)1, 2, 9 Pizzuti A.... Dallapiccola B. (Invest. Ophthalmol. Vis. Sci. 2002)
    4. Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. (PubMed id 21922598)1, 2 Salzmann A.... Malafosse A. (Hum. Mutat. 2012)
    5. 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)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. 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)
    8. Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. (PubMed id 22379998)4 McCormack M....Cavalleri G.L. (Pharmacogenomics 2012)
    9. Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy. (PubMed id 23105115)1 Sapio M.R....Fricker L.D. (J. Biol. Chem. 2012)
    10. Substrate specificity of human carboxypeptidase A6. (PubMed id 20855895)1 Lyons P.J. and Fricker L.D. (J. Biol. Chem. 2010)

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

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

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

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

    TryGeneCards Plus
    Entrez Gene: 57094 HGNC: 17245 AceView: CPA6 Ensembl:ENSG00000165078 euGenes: HUgn57094
    ECgene: CPA6 H-InvDB: CPA6

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CPA6 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 CPA6 gene:
    Search GeneIP for patents involving CPA6

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

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CPA6  
     OriGene qPCR primer pairs and template standards for CPA6   OriGene Protein Over-expression Lysate for CPA6  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for CPA6  
     OriGene qSTAR qPCR primer pairs in human, mouse for CPA6   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for CPA6   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CPA6   OriGene Custom Protein Services for CPA6  

     
     
     Block miRNA regulation of human, mouse, rat CPA6 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CPA6
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CPA6 Predesigned siRNA for gene silencing in human, mouse, rat CPA6
     QuantiFast Probe-based Assays in human, mouse, rat CPA6 QuantiTect SYBR Green Assays in human, mouse, rat CPA6
     Custom PCR Arrays for CPA6 Search Chromatin IP Primers for CPA6
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CPA6  Search GeneGlobe Interaction Network for CPA6
     Regulatory tfbs in CPA6 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CPA6 GenScript cDNA clones with any tag delivered in your preferred vector for CPA6
     GenScript Custom Assay Services for CPA6 GenScript Custom overexpressing Cell Line Services for CPA6
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CPA6 (CBPA6)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for CPA6
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CPA6 antibodies
     CPA6 proteins
     CPA6 lysates
     Antibodies for CPA6
     See all of Abcam's Antibodies, Kits and Proteins for CPA6
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CPA6
     Antibodies for CPA6
     ELISAs for CPA6
     CLIAs for CPA6



     Browse ESI BIO Cell Lines and PureStem Progenitors for CPA6
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPA6
     SwitchGear 3'UTR luciferase reporter plasmids for CPA6
     SwitchGear Promoter luciferase reporter plasmids for CPA6
     Search ThermoFisher Antibodies for CPA6
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CPA6
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CPA6
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CPA6
     LSBio Antibodies in human, mouse, rat for CPA6
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for CPA6
      Search eBioscience for proteins for CPA6
      Search eBioscience for elisas for CPA6
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CPA6 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4