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PRODH2 proline dehydrogenase 2 [ Homo sapiens (human) ]

Gene ID: 58510, updated on 1-Jun-2020

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:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35799988..35812845, 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 Functions

What's a GeneRIF?

Pathways from PubChem

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_001365221.1
NP_001365222.1
NP_001365223.1
NP_067055.2

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_001378292.1NP_001365221.1  hydroxyproline dehydrogenase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC002398, U95090
  2. NM_001378293.1NP_001365222.1  hydroxyproline dehydrogenase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC002398, U95090
  3. NM_001378294.1NP_001365223.1  hydroxyproline dehydrogenase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC002398, U95090
  4. NM_021232.2NP_067055.2  hydroxyproline dehydrogenase isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC002398, U95090
    Consensus CDS
    CCDS12478.1
    Related
    ENSP00000301175.3, ENST00000301175.7

RefSeqs of Annotated Genomes: Homo sapiens Updated 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
    35799988..35812845 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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