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

CPA6 Gene

protein-coding   GIFtS: 56
GCID: GC08M068384

Carboxypeptidase A6

Alzheimer's & Parkinson's 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)
About This Section

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

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

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 duane retraction syndrome. GO annotations related to this gene include metallocarboxypeptidase activity and zinc ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008183.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CPA6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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)
Subcellular location: Secreted, extracellular space, extracellular matrix
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N4T0

  • 4 DME Specific Peptides for CPA6 (Q8N4T0)
     FELRDTG  PESEPEV  AFCQWFV  GIHAREW 

    CPA6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CPA6 Protein Expression
    REFSEQ proteins: NP_065094.3  
    ENSEMBL proteins: 
     ENSP00000419016   ENSP00000297770   ENSP00000431112   ENSP00000297769  

    Human Recombinant Protein Products for CPA6: 
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    Cloud-Clone Corp. Proteins for CPA6 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    CPA6 for ontologies           About GeneDecksing



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


    CPA6 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004180carboxypeptidase activity ----
    GO:0004181metallocarboxypeptidase activity NAS11836249
    GO:0008270zinc ion binding IEA--
         
    CPA6 for ontologies           About GeneDecksing


    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CPA6 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CPA6

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

    CPA6 for ontologies           About GeneDecksing



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

    CPA6 for compounds           About GeneDecksing

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

    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--

    10/11 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)

    Search CenterWatch for drugs/clinical trials and news about CPA6 / CBPA6

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate CPA6:
    hsa-miR-526b hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidCPA6 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF221594.1 AY044833.1 BC033684.1 

    3 DOTS entries:

    DT.206265  DT.100695623  DT.206266 

    9 AceView cDNA sequences:

    BK000188 BI756197 BC033684 AF221594 H86480 NM_020361 BF445564 BI758481 
    H84399 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CPA6 expression in normal human tissues (normalized intensities)      CPA6 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) 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
     
     Lower Urinary Tract (Urinary System)
             urethra   
     
     Larynx (Respiratory System)

    See CPA6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CPA6

    SOURCE GeneReport for Unigene cluster: Hs.658850

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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CPA6 gene from 6/11 species (see all 11)    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
    75(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_001342113.4  XP_001342149.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG30971 CG3097 43.05(n)
    35.57(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
    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

    CPA6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/6753 SNPs in CPA6 are shown (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
    ----------
    VAR_0669464
    Epilepsy, familial temporal lobe, 5 (ETL5)4--see VAR_0669462 G R mis40--------
    rs1144026781,2,4
    C,FFamilial febrile convulsions 11 (FEB11)4 --68497357(+) TATTGG/ACATCC 2 /A /V mis12Minor allele frequency- A:0.00WA NA 4668
    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) 10/14 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609562    OMIM disorders: --

    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
  • Familial febrile convulsions 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

  • 20/22 diseases for CPA6 (see all 22):    About MalaCards
    epilepsy, familial temporal lobe, 5    duane retraction syndrome    tricuspid valve insufficiency    cluster headache
    febrile seizures    headache    acute pancreatitis    pharyngitis
    temporal lobe epilepsy    leishmaniasis    pancreatitis    alzheimer's disease
    pneumonia    systemic lupus erythematosus    lupus erythematosus    rheumatoid arthritis
    hepatitis b    arthritis    neuroblastoma    endotheliitis

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

    CPA6 for disorders           About GeneDecksing


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

    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

    PubMed articles for CPA6 gene, integrated from 9 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. (2002)
    2. Characterization of carboxypeptidase A6, an extracellular matrix peptidase. (PubMed id 18178555)1, 2, 9 Lyons P.J....Fricker L.D. (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. (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. (2011)
    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. (2010)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (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. (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. (2012)
    9. Naturally occurring carboxypeptidase A6 mutations: eff ect on enzyme function and association with epilepsy. (PubMed id 23105115)1 Sapio M.R....Fricker L.D. (2012)
    10. Substrate specificity of human carboxypeptidase A6. (PubMed id 20855895)1 Lyons P.J. and Fricker L.D. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 57094 HGNC: 17245 AceView: CPA6 Ensembl:ENSG00000165078 euGenes: HUgn57094
    ECgene: CPA6 H-InvDB: CPA6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CPA6 Pharmacogenomics, SNPs, Pathways

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



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