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    CNDP2 carnosine dipeptidase 2 [ Homo sapiens (human) ]

    Gene ID: 55748, updated on 19-Sep-2024

    Summary

    Official Symbol
    CNDP2provided by HGNC
    Official Full Name
    carnosine dipeptidase 2provided by HGNC
    Primary source
    HGNC:HGNC:24437
    See related
    Ensembl:ENSG00000133313 MIM:169800; AllianceGenome:HGNC:24437
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CN2; CPGL; PEPA; HsT2298; HEL-S-13
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 58.4), small intestine (RPKM 41.5) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CNDP2 in Genome Data Viewer
    Location:
    18q22.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (74496363..74523454)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (74723735..74750816)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (72163598..72190689)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:72079090-72079848 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:72079849-72080607 Neighboring gene long intergenic non-protein coding RNA 1922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72112405-72112906 Neighboring gene divergent protein kinase domain 1C Neighboring gene CRISPRi-validated cis-regulatory element chr18.1476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13496 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:72163711-72164223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72177239-72177740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72177741-72178240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72208118-72208618 Neighboring gene carnosine dipeptidase 1 Neighboring gene uncharacterized LOC124904324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13500 Neighboring gene ZNF407 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10830, FLJ35544

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carboxypeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables dipeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dipeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metallodipeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    cytosolic non-specific dipeptidase
    Names
    CNDP dipeptidase 2 (metallopeptidase M20 family)
    carnosinase-2
    carnosine dipeptidase II
    cytosolic nonspecific dipeptidase
    epididymis secretory protein Li 13
    glutamate carboxypeptidase-like protein 1
    peptidase A
    threonyl dipeptidase
    NP_001161971.1
    NP_001357177.1
    NP_001357178.1
    NP_001357179.1
    NP_001357183.1
    NP_060705.2
    XP_047293579.1
    XP_047293580.1
    XP_054174780.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001168499.2NP_001161971.1  cytosolic non-specific dipeptidase isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the central coding region, compared to variant 1. The resulting isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC009704, AF258592, BM675304
      Consensus CDS
      CCDS54190.1
      UniProtKB/TrEMBL
      B4DV28
      Related
      ENSP00000325756.8, ENST00000324301.12
      Conserved Domains (2) summary
      PRK08201
      Location:10389
      PRK08201; hypothetical protein; Provisional
      cd05676
      Location:7389
      M20_dipept_like_CNDP; M20 cytosolic nonspecific dipeptidases including anserinase and serum carnosinase
    2. NM_001370248.1NP_001357177.1  cytosolic non-specific dipeptidase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC009704, BC001375, BQ223281
      Consensus CDS
      CCDS12006.1
      UniProtKB/Swiss-Prot
      B3KUG4, Q8WY59, Q96KP4, Q9BQ94, Q9NVB4, V9HWE5
      UniProtKB/TrEMBL
      B4DV28
      Related
      ENSP00000462311.1, ENST00000579847.5
      Conserved Domains (1) summary
      cd05676
      Location:7473
      M20_dipept_like_CNDP; M20 cytosolic nonspecific dipeptidases including anserinase and serum carnosinase
    3. NM_001370249.1NP_001357178.1  cytosolic non-specific dipeptidase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC009704, BC001375, BQ223281
      Consensus CDS
      CCDS12006.1
      UniProtKB/Swiss-Prot
      B3KUG4, Q8WY59, Q96KP4, Q9BQ94, Q9NVB4, V9HWE5
      UniProtKB/TrEMBL
      B4DV28
      Conserved Domains (1) summary
      cd05676
      Location:7473
      M20_dipept_like_CNDP; M20 cytosolic nonspecific dipeptidases including anserinase and serum carnosinase
    4. NM_001370250.1NP_001357179.1  cytosolic non-specific dipeptidase isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC009704, BC001375, BQ223281
      Consensus CDS
      CCDS12006.1
      UniProtKB/Swiss-Prot
      B3KUG4, Q8WY59, Q96KP4, Q9BQ94, Q9NVB4, V9HWE5
      UniProtKB/TrEMBL
      B4DV28
      Conserved Domains (1) summary
      cd05676
      Location:7473
      M20_dipept_like_CNDP; M20 cytosolic nonspecific dipeptidases including anserinase and serum carnosinase
    5. NM_001370254.1NP_001357183.1  cytosolic non-specific dipeptidase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC009704, BC001375, DC313148
      Conserved Domains (1) summary
      cl14876
      Location:1234
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    6. NM_018235.3NP_060705.2  cytosolic non-specific dipeptidase isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 3, 4, and 5 encode the same isoform.
      Source sequence(s)
      AC009704, BC001375, BM675304, DC313148
      Consensus CDS
      CCDS12006.1
      UniProtKB/Swiss-Prot
      B3KUG4, Q8WY59, Q96KP4, Q9BQ94, Q9NVB4, V9HWE5
      UniProtKB/TrEMBL
      B4DV28
      Related
      ENSP00000325548.4, ENST00000324262.9
      Conserved Domains (1) summary
      cd05676
      Location:7473
      M20_dipept_like_CNDP; M20 cytosolic nonspecific dipeptidases including anserinase and serum carnosinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      74496363..74523454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437624.1XP_047293580.1  cytosolic non-specific dipeptidase isoform X1

      UniProtKB/Swiss-Prot
      B3KUG4, Q8WY59, Q96KP4, Q9BQ94, Q9NVB4, V9HWE5
      UniProtKB/TrEMBL
      B4DV28
    2. XM_047437623.1XP_047293579.1  cytosolic non-specific dipeptidase isoform X1

      UniProtKB/Swiss-Prot
      B3KUG4, Q8WY59, Q96KP4, Q9BQ94, Q9NVB4, V9HWE5
      UniProtKB/TrEMBL
      B4DV28

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      74723735..74750816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318805.1XP_054174780.1  cytosolic non-specific dipeptidase isoform X1

      UniProtKB/Swiss-Prot
      B3KUG4, Q8WY59, Q96KP4, Q9BQ94, Q9NVB4, V9HWE5
      UniProtKB/TrEMBL
      B4DV28