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CNDP2 Gene

protein-coding   GIFtS: 65
GCID: GC18P072163

CNDP Dipeptidase 2 (Metallopeptidase M20 Family)

(Previous name: peptidase A)
(Previous symbol: PEPA)
  See CNDP2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
CNDP Dipeptidase 2 (Metallopeptidase M20 Family)1 2     HEL-S-132
PEPA1 2 3 5     HsT22982
Peptidase A1 2 3     Cytosolic Non-Specific Dipeptidase2
Glutamate Carboxypeptidase-Like Protein 12 3     Cytosolic Nonspecific Dipeptidase2
CN22 3     Epididymis Secretory Protein Li 132
CPGL2 3     EC 3.4.13.183
Cytosolic Nonspecific Dipeptidase (EC 3.4.13.18)1     CNDP Dipeptidase 23

External Ids:    HGNC: 244371   Entrez Gene: 557482   Ensembl: ENSG000001333137   OMIM: 1698005   UniProtKB: Q96KP43   

Export aliases for CNDP2 gene to outside databases

Previous GC identifers: GC18P070313 GC18P070314 GC18P068895


(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 CNDP2 Gene:
CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a
selective carnosinase (Teufel et al., 2003 (PubMed 12473676)).(supplied by OMIM, Mar 2008)

GeneCards Summary for CNDP2 Gene:
CNDP2 (CNDP dipeptidase 2 (metallopeptidase M20 family)) is a protein-coding gene. Diseases associated with CNDP2 include edwards syndrome. GO annotations related to this gene include metallopeptidase activity and dipeptidase activity. An important paralog of this gene is CNDP1.

UniProtKB/Swiss-Prot: CNDP2_HUMAN, Q96KP4
Function: Hydrolyzes a variety of dipeptides including L-carnosine but has a strong preference for Cys-Gly.
Isoform 2 may be play a role as tumor suppressor in hepatocellular carcinoma (HCC) cells




(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 at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNDP2 gene promoter:
         GR   Elk-1   POU2F1   POU2F1a   POU2F1b   GR-alpha   POU2F1c   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CNDP2 promoter sequence
   Search Chromatin IP Primers for CNDP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNDP2


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

Entrez Gene cytogenetic band: 18q22.3   Ensembl cytogenetic band:  18q22.3   HGNC cytogenetic band: 18q22.3

CNDP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNDP2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P072163:  view genomic region     (about GC identifiers)

Start:
72,163,051 bp from pter      End:
72,190,689 bp from pter
Size:
27,639 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CNDP2_HUMAN, Q96KP4 (See protein sequence)
Recommended Name: Cytosolic non-specific dipeptidase  
Size: 475 amino acids; 52878 Da
Cofactor: Binds 2 manganese ions per subunit (By similarity)
Subunit: Homodimer
Secondary accessions: B3KUG4 Q8WY59 Q9BQ94 Q9NVB4
Alternative splicing: 2 isoforms:  Q96KP4-1   Q96KP4-2   

Explore the universe of human proteins at neXtProt for CNDP2: NX_Q96KP4

Explore proteomics data for CNDP2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys24, Lys383, Lys402
  • Modification sites at PhosphoSitePlus

  • See CNDP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161971.1  NP_060705.2  

    ENSEMBL proteins: 
     ENSP00000464151   ENSP00000325548   ENSP00000464214   ENSP00000462311   ENSP00000463314  
     ENSP00000464319   ENSP00000463702   ENSP00000463816   ENSP00000464122   ENSP00000464014  
     ENSP00000462673   ENSP00000462626   ENSP00000463182   ENSP00000463222   ENSP00000325756  
     ENSP00000461941   ENSP00000462034  
    Reactome Protein details: Q96KP4

    CNDP2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CNDP2

     
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    antibodies-online kits for CNDP2 (7 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Carnosine dipeptidase 2
    Metallocarboxypeptidases

    4 InterPro protein domains:
     IPR017153 GSH_degradosome_DUG1
     IPR011650 Peptidase_M20_dimer
     IPR001261 ArgE/DapE_CS
     IPR002933 Peptidase_M20

    Graphical View of Domain Structure for InterPro Entry Q96KP4

    ProtoNet protein and cluster: Q96KP4

    2 Blocks protein domains:
    IPB001261 ArgE/dapE/ACY1/CPG2/yscS
    IPB011650 Peptidase dimerisation


    UniProtKB/Swiss-Prot: CNDP2_HUMAN, Q96KP4
    Similarity: Belongs to the peptidase M20A family


    Find genes that share domains with CNDP2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CNDP2_HUMAN, Q96KP4
    Function: Hydrolyzes a variety of dipeptides including L-carnosine but has a strong preference for Cys-Gly.
    Isoform 2 may be play a role as tumor suppressor in hepatocellular carcinoma (HCC) cells
    Catalytic activity: Hydrolysis of dipeptides, preferentially hydrophobic dipeptides including prolyl amino acids
    Enzyme regulation: Inhibited by p-hydroxymercurybenzoate. The inhibitory concentration 50% (IC(50)) is 13 uM.
    Inhibited by bestatin. The inhibitory concentration 50% (IC(50)) is 7 nM at pH 9.5
    Biophysicochemical properties: Kinetic parameters: KM=1.04 mM for Ser-Gln (at pH 7.5 and in the presence of 0.1 mM
    manganese ions); KM=0.6 mM for Cys-Gly (at pH 8.0 and in the presence of 50 uM manganese ions); KM=15 mM for
    carnosine (at pH 9.5 and in the presence of 0.1 mM manganese ions);

         Enzyme Number (IUBMB): EC 3.4.13.181

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004180carboxypeptidase activity TAS--
    GO:0008233peptidase activity ----
    GO:0008237metallopeptidase activity IEA--
    GO:0016787hydrolase activity ----
    GO:0016805dipeptidase activity IEA--
         
    Find genes that share ontologies with CNDP2           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Cndp2 (no phenotypes)

    Find genes that share phenotypes with CNDP2           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CNDP2

    miRNA
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    miRTarBase miRNAs that target CNDP2:
    hsa-mir-155-5p (MIRT020528), hsa-mir-30a-5p (MIRT028391), hsa-let-7b-5p (MIRT032223), hsa-mir-24-3p (MIRT030380)

    Block miRNA regulation of human, mouse, rat CNDP2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CNDP2:
    hsa-miR-4251
    SwitchGear 3'UTR luciferase reporter plasmidCNDP2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CNDP2

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNDP2


    (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
    CNDP2_HUMAN, Q96KP4: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with CNDP2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CNDP2 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Glutathione metabolism
    Glutathione conjugation0.60
    Glutathione synthesis and recycling0.00
    3Biological oxidations
    Biological oxidations0.56
    Phase II conjugation0.56
    4Sulfur amino acid metabolism
    Sulfur amino acid metabolism0.35
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives


    Find genes that share SuperPaths with CNDP2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CNDP2
        gamma-glutamyl cycle


    2 Reactome Pathways for CNDP2
        Glutathione synthesis and recycling
    Sulfur amino acid metabolism


    4 Kegg Pathways  (Kegg details for CNDP2):
        Arginine and proline metabolism
    Histidine metabolism
    beta-Alanine metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CNDP2
    Interactions:

        Search GeneGlobe Interaction Network for CNDP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CNDP2 (Q96KP41, 3 ENSP000003255484) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDRG1Q925971, 3, ENSP000003199774EBI-1190734,EBI-716486 I2D: score=1 STRING: ENSP00000319977
    ARFGEF1Q9Y6D63, ENSP000002622154I2D: score=4 STRING: ENSP00000262215
    RHOAP615863, ENSP000004001754I2D: score=4 STRING: ENSP00000400175
    CSE1LP550603, ENSP000002629824I2D: score=2 STRING: ENSP00000262982
    GFPT2O948083, ENSP000002537784I2D: score=1 STRING: ENSP00000253778
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0006508proteolysis ----
    GO:0006750glutathione biosynthetic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008152metabolic process ----

    Find genes that share ontologies with CNDP2           About GenesLikeMe



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

    Browse Tocris compounds for CNDP2

    1 Novoseek inferred chemical compound relationship for CNDP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thimet 77.6 1 17277461 (1)



    Find genes that share compounds with CNDP2           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 )
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    REFSEQ mRNAs for CNDP2 gene (2 alternative transcripts): 
    NM_001168499.1  NM_018235.2  

    Unigene Cluster for CNDP2:

    CNDP dipeptidase 2 (metallopeptidase M20 family)
    Hs.149185  [show with all ESTs]
    Unigene Representative Sequence: NM_018235
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000581272 ENST00000324262(uc021ulm.1 uc002llm.2) ENST00000580672
    ENST00000583399 ENST00000579847 ENST00000583203 ENST00000582260 ENST00000581513
    ENST00000580229 ENST00000577600 ENST00000579583 ENST00000584613 ENST00000583216
    ENST00000581912 ENST00000582589 ENST00000583785 ENST00000324301(uc002lln.2)
    ENST00000582620
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CNDP2
      QuantiFast Probe-based Assays in human, mouse, rat CNDP2

    Additional mRNA sequence: 

    AF258592.1 AJ347717.1 AK001262.1 AK001692.1 AK001983.1 AK097155.1 AK298309.1 AK300904.1 
    BC001375.2 BC003176.1 

    Selected DOTS entries (see all 39):

    DT.418336  DT.100845562  DT.100845556  DT.100845566  DT.91933901  DT.100845559  DT.100845571  DT.91769983 
    DT.121097376  DT.413016  DT.92410309  DT.121097402  DT.100034722  DT.121097381  DT.121097408  DT.87079100 
    DT.97760065  DT.100845573  DT.121097360  DT.91769989  DT.91769992  DT.100834923  DT.121097371  DT.121097422 

    Selected AceView cDNA sequences (see all 667):

    BQ437774 BU184087 BE302753 BX956212 AW027963 AL544678 BU177134 AI792358 
    CD629095 BU931022 BQ934601 AL045131 BM927649 BQ053384 CB993122 CB993588 
    BQ423379 BU931553 BG171680 F06621 CB156243 CD629096 BQ057102 BU944083 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CNDP2 (see all 27)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b ·
    SP1:                                -     -     -     -     -     -     -     -                                               -                                 
    SP2:                                                                                                                          -                       -     -   
    SP3:                                -           -     -     -     -     -     -     -     -     -     -     -                 -                                 
    SP4:                                            -     -     -     -     -     -                                               -                                 
    SP5:                                            -     -     -     -     -     -     -     -     -     -     -                 -                                 

    ExUns: 9c ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c · 13d · 13e ^ 14a · 14b · 14c · 14d ^ 15 ^ 16a · 16b · 16c ^ 17a · 17b · 17c · 17d ^ 18a · 18b ^ 19a ·
    SP1:                                                                                -     -     -                                         -           -         
    SP2:  -     -     -     -     -     -                                               -     -     -                                         -           -         
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19b ^ 20 ^ 21
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for CNDP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CNDP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACACCTCTAA
    CNDP2 Expression
    About this image


    CNDP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Mural Trophectoderm Cells Mural Trophectoderm
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
    CNDP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNDP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.149185

    UniProtKB/Swiss-Prot: CNDP2_HUMAN, Q96KP4
    Tissue specificity: Isoform 1 is ubiquitously expressed with higher levels in kidney and liver (at protein level).
    Isoform 2 is expressed in fetal tissues, it is only expressed in adult liver and placental tissues

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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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CNDP2 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cndp21 , 5 CNDP dipeptidase 2 (metallopeptidase M20 family)1, 5 84.91(n)1
    91.16(a)1
      18 (57.53 cM)5
    660541  NM_023149.21  NP_075638.21 
     846674705 
    chicken
    (Gallus gallus)
    Aves CNDP21 CNDP dipeptidase 2 (metallopeptidase M20 family) 75.37(n)
    84.63(a)
      421013  NM_001006385.1  NP_001006385.1 
    lizard
    (Anolis carolinensis)
    Reptilia CNDP26
    CNDP dipeptidase 2 (metallopeptidase M20 family)
    83(a)
    1 ↔ 1
    4(49192996-49228230)
    African clawed frog
    (Xenopus laevis)
    Amphibia cn2-prov2 cytosolic nonspecific dipeptidase (EC 3.4.13.18) 76.46(n)    BC056069.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufd20d112 Danio rerio cytosolic nonspecific dipeptidase (CN2) more 76.3(n)    AY391414.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG173371 CG17337 59.32(n)
    62.92(a)
      35507  NM_136337.3  NP_610181.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H2AM.111 Y71H2AM.11 54.96(n)
    56.81(a)
      175387  NM_065205.6  NP_497606.4 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DUG1(YFR044C)4
    DUG11
    Cys-Gly metallo-di-peptidase; forms a complex with more4
    DUG11
    54.96(n)1
    52.13(a)1
      6(241437-239992)4
    8506051, 4  NP_116702.11, 4 


    ENSEMBL Gene Tree for CNDP2 (if available)
    TreeFam Gene Tree for CNDP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNDP2 gene
    CNDP12  
    2 SIMAP similar genes for CNDP2 using alignment to 16 protein entries:     CNDP2_HUMAN (see all proteins):
    FLJ00064    CNDP1

    Find genes that share paralogs with CNDP2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CNDP2 (see all 850)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1117417471,2
    C,F--72161543(+) TTAAGA/GGTAAA 1 -- us2k12Minor allele frequency- G:0.33CSA 3
    rs773357811,2
    F--72161597(+) AGAAAC/TATGTT 1 -- us2k10--------
    rs80841151,2
    C,F--72161600(+) aacatG/Attcac 1 -- us2k16Minor allele frequency- A:0.17WA NA CSA 246
    rs1492461331,2
    C--72161785(+) TTTGC-/TATATAC 1 -- us2k10--------
    rs2019485411,2
    --72161790(+) TATAT-/ACATATG 1 -- us2k10--------
    rs106331651,2
    C--72161794(+) ACATA-/TGtgtgt 1 -- us2k10--------
    rs1448734991,2
    C--72161821(+) TTTTT-/TAACCA 1 -- us2k10--------
    rs1903673771,2
    --72161905(+) TAGATA/TTGATT 1 -- us2k10--------
    rs1813498751,2
    --72161907(+) GATATC/GATTAA 1 -- us2k10--------
    rs1426943531,2
    --72161970(+) ATATAC/GTTTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CNDP2 (72163051 - 72190689 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CNDP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2717348CNV Deletion23290073
    esv2717347CNV Deletion23290073
    esv1617659CNV Insertion17803354
    dgv3467n71CNV Loss21882294
    nsv909919CNV Gain21882294
    nsv909916CNV Gain21882294

    Human Gene Mutation Database (HGMD): CNDP2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CNDP2
    DNA2.0 Custom Variant and Variant Library Synthesis for CNDP2

    (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.)
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    OMIM gene information: 169800    OMIM disorders: --

    1 disease for CNDP2:    
    About MalaCards
    edwards syndrome

    1 disease from the University of Copenhagen DISEASES database for CNDP2:
    Edwards syndrome

    Find genes that share disorders with CNDP2           About GenesLikeMe

    1 Novoseek inferred disease relationship for CNDP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetic nephropathies 49.8 4 18753673 (2), 19373489 (2), 19033401 (1), 19033402 (1)

    Genetic Association Database (GAD): CNDP2
    Human Genome Epidemiology (HuGE) Navigator: CNDP2 (3 documents)

    Export disorders for CNDP2 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 CNDP2 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with CNDP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence identification and characterization of human carnosinase and a closely related non-specific dipeptidase. (PubMed id 12473676)1, 2, 3, 9 Teufel M....Smirnova T. (J. Biol. Chem. 2003)
    2. The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans. (PubMed id 19373489)1, 4, 9 McDonough C.W....Bowden D.W. (Hum. Genet. 2009)
    3. Exclusion of polymorphisms in carnosinase genes (CNDP1 and CNDP2) as a cause of diabetic nephropathy in type 1 diabetes: results of large case-control and follow-up studies. (PubMed id 18753673)1, 4, 9 Wanic K....Krolewski A.S. (Diabetes 2008)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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)
    6. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. (PubMed id 23396134)1 Verhoeven V.J....Hammond C.J. (Nat. Genet. 2013)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. Proteomic profiling of the substantia nigra demonstrates CNDP2 overexpression in Parkinson's disease. (PubMed id 22410244)1 Licker V....Burkhard P.R. (J Proteomics 2012)
    9. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    10. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 55748 HGNC: 24437 AceView: CNDP2 Ensembl:ENSG00000133313 euGenes: HUgn55748
    ECgene: CNDP2 Kegg: 55748 H-InvDB: CNDP2

    (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 CNDP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CNDP2 gene:
    Search GeneIP for patents involving CNDP2

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



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