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    PRODH2 proline dehydrogenase 2 [ Homo sapiens (human) ]

    Gene ID: 58510, updated on 15-Jun-2019

    Summary

    Official Symbol
    PRODH2provided by HGNC
    Official Full Name
    proline dehydrogenase 2provided by HGNC
    Primary source
    HGNC:HGNC:17325
    See related
    Ensembl:ENSG00000250799 MIM:616377
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HYPDH; HSPOX1
    Summary
    The protein encoded by this gene catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downstream products of this catabolism is glyoxylate, which in people with disorders of glyoxalate metabolism can lead to an increase in oxalate levels and the formation of calcium-oxalate kidney stones. Therefore, this gene may serve as a therapeutic target against primary hyperoxalurias (PH). This gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme that catalyzes the first step in proline catabolism. [provided by RefSeq, Jan 2017]
    Expression
    Restricted expression toward kidney (RPKM 100.5) See more
    Orthologs

    Genomic context

    See PRODH2 in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (35799987..35813299, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36290892..36304201, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 33 Neighboring gene long intergenic non-protein coding RNA 1529 Neighboring gene NPHS1 adhesion molecule, nephrin Neighboring gene kirre like nephrin family adhesion molecule 2 Neighboring gene uncharacterized LOC107985317 Neighboring gene amyloid beta precursor like protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    FAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxidoreductase activity, acting on the CH-NH group of donors IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proline dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    proline dehydrogenase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    glyoxylate metabolic process TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    proline catabolic process TAS
    Traceable Author Statement
    more info
     
    proline catabolic process to glutamate IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    hydroxyproline dehydrogenase
    Names
    kidney and liver proline oxidase 1
    probable proline dehydrogenase 2
    probable proline oxidase 2
    proline dehydrogenase (oxidase) 2
    NP_067055.1
    XP_016882573.1
    XP_016882574.1

    NCBI Reference Sequences (RefSeq)

    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_021232.1NP_067055.1  hydroxyproline dehydrogenase

      See identical proteins and their annotated locations for NP_067055.1

      Status: REVIEWED

      Source sequence(s)
      U80018
      Consensus CDS
      CCDS12478.1
      UniProtKB/Swiss-Prot
      Q9UF12
      Related
      ENSP00000301175.3, ENST00000301175.7
      Conserved Domains (2) summary
      PLN02681
      Location:86528
      PLN02681; proline dehydrogenase
      pfam01619
      Location:282515
      Pro_dh; Proline dehydrogenase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      35799987..35813299 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027085.1XP_016882574.1  hydroxyproline dehydrogenase isoform X2

    2. XM_017027084.2XP_016882573.1  hydroxyproline dehydrogenase isoform X1

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