PRODH Gene (Protein Coding)

Proline Dehydrogenase 1

GC22M018912
GIFtS:
45
This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively splic... See more...

Aliases for PRODH Gene

Aliases for PRODH Gene

  • Proline Dehydrogenase 1 2 3 5
  • PRODH2 2 3 4
  • PIG6 2 3 4
  • Proline Dehydrogenase 1, Mitochondrial 3 4
  • P53-Induced Gene 6 Protein 3 4
  • Proline Oxidase 2 3 4
  • Proline Oxidase 2 4
  • HSPOX2 2 3
  • PRODH1 2 3
  • TP53I6 2 3
  • Proline Dehydrogenase (Proline Oxidase ) 2
  • Tumor Protein P53 Inducible Protein 6 3
  • Proline Dehydrogenase (Oxidase) 1 3
  • Proline Oxidase, Mitochondrial 3
  • EC 1.5.99.8 51
  • EC 1.5.5.2 4
  • PRODH 5
  • POX2 4
  • POX 3

External Ids for PRODH Gene

Previous GeneCards Identifiers for PRODH Gene

  • GC22M015840
  • GC22M017274
  • GC22M018900
  • GC22M002522

Summaries for PRODH Gene

Entrez Gene Summary for PRODH Gene

  • This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

GeneCards Summary for PRODH Gene

PRODH (Proline Dehydrogenase 1) is a Protein Coding gene. Diseases associated with PRODH include Hyperprolinemia, Type I and Schizophrenia 4. Among its related pathways are Viral mRNA Translation and Arginine and proline metabolism. Gene Ontology (GO) annotations related to this gene include FAD binding and proline dehydrogenase activity. An important paralog of this gene is LOC102724788.

UniProtKB/Swiss-Prot Summary for PRODH Gene

Gene Wiki entry for PRODH Gene

Additional gene information for PRODH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRODH Gene

Genomics for PRODH Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PRODH Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22J018923 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 617.6 +6.4 6374 13.4 GATAD2A CTCF TEAD4 PRDM10 TFE3 KDM1A ZNF692 FOXA1 RFX1 ZIC2 PRODH DGCR6 DGCR5 MICAL3 TUBA8 piR-57133-381 ENSG00000284294 lnc-DGCR2-6 ENSG00000283809
GH22J018937 Enhancer 0.4 Ensembl dbSUPER 611 -1.2 -1248 0.8 KLF1 PRODH ENSG00000284294 piR-40154-111 piR-30188-109 piR-52261-171 ESS2 ENSG00000283809 DGCR2
GH22J018938 Enhancer 0.2 dbSUPER 600.7 -2.0 -1983 0.3 PRODH piR-40154-111 piR-30188-109 piR-52261-171 ENSG00000284294 ENSG00000283809 DGCR2
GH22J018970 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 12.2 -34.4 -34392 2.1 TEAD4 ZIC2 POLR2A PATZ1 REST ZFX MNT NRF1 NONO ZBTB20 DGCR5 ENSG00000273032 DGCR6 PRODH DGCR2 piR-50308-415
GH22J018947 Enhancer 0.4 Ensembl dbSUPER 14.3 -10.5 -10547 2.6 POLR2A piR-32861-047 piR-40154-112 piR-52261-172 piR-56523-007 piR-53431-441 PRODH DGCR6 DGCR5 ENSG00000284294 ENSG00000283809
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRODH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRODH

Top Transcription factor binding sites by QIAGEN in the PRODH gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • CREB
  • deltaCREB
  • HNF-4alpha1
  • HNF-4alpha2
  • RFX1
  • SEF-1 (1)

Genomic Locations for PRODH Gene

Genomic Locations for PRODH Gene
chr22:18,912,777-18,936,553
(GRCh38/hg38)
Size:
23,777 bases
Orientation:
Minus strand
chr22:18,900,287-18,924,066
(GRCh37/hg19)
Size:
23,780 bases
Orientation:
Minus strand

Genomic View for PRODH Gene

Genes around PRODH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRODH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRODH Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PRODH Gene

Proteins for PRODH Gene

Products:

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  • Protein details for PRODH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43272-PROD_HUMAN
    Recommended name:
    Proline dehydrogenase 1, mitochondrial
    Protein Accession:
    O43272
    Secondary Accessions:
    • A6NF53
    • O14680
    • Q0P507
    • Q147W8
    • Q504W1
    • Q59FI8
    • Q6NV86
    • Q9UF13

    Protein attributes for PRODH Gene

    Size:
    600 amino acids
    Molecular mass:
    68002 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC39529.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH68260.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH94736.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH94736.1; Type=Miscellaneous discrepancy; Note=Artifact. Missing internal sequence that doesn't correspond to an exon-intron boundary.; Evidence={ECO:0000305}; Sequence=BAD92709.1; Type=Miscellaneous discrepancy; Note=Intron retention. Includes intronic sequence at the 5' end.; Evidence={ECO:0000305};

    Alternative splice isoforms for PRODH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRODH Gene

Protein Expression for PRODH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PRODH Gene

O43272:
  • FGQLLGMCD
  • GHFVAGE
  • MVASHNE
  • KLVRGAY

Post-translational modifications for PRODH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRODH Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PRODH Gene

Gene Families for PRODH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PRODH Gene

InterPro:
Blocks:
  • Proline dehydrogenase
ProtoNet:

Suggested Antigen Peptide Sequences for PRODH Gene

GenScript: Design optimal peptide antigens:
  • p53-induced gene 6 protein (PROD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43272

UniProtKB/Swiss-Prot:

PROD_HUMAN :
  • Belongs to the proline oxidase family.
Family:
  • Belongs to the proline oxidase family.
genes like me logo Genes that share domains with PRODH: view

Function for PRODH Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for PRODH Gene

UniProtKB/Swiss-Prot Function:
Converts proline to delta-1-pyrroline-5-carboxylate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a quinone + L-proline = (S)-1-pyrroline-5-carboxylate + a quinol + H(+); Xref=Rhea:RHEA:23784, ChEBI:CHEBI:15378, ChEBI:CHEBI:17388, ChEBI:CHEBI:24646, ChEBI:CHEBI:60039, ChEBI:CHEBI:132124; EC=1.5.5.2; Evidence={ECO:0000269|PubMed:15662599};.
UniProtKB/Swiss-Prot Induction:
During p53/TP53-induced apoptosis.
GENATLAS Biochemistry:
proline dehydrogenase,Drosophila sluggish-A homolog,predominantly expressed in lung,skeletal muscle,brain,heart,kidney,proline metabolic pathway,mitochondrial matrix,involved putatively in any psychiatric disorders

Enzyme Numbers (IUBMB) for PRODH Gene

Phenotypes From GWAS Catalog for PRODH Gene

Gene Ontology (GO) - Molecular Function for PRODH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004657 proline dehydrogenase activity IEA,IDA 15662599
GO:0016491 oxidoreductase activity IEA --
GO:0071949 FAD binding IDA 15662599
genes like me logo Genes that share ontologies with PRODH: view
genes like me logo Genes that share phenotypes with PRODH: view

Human Phenotype Ontology for PRODH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRODH Gene

MGI Knock Outs for PRODH:
  • Prodh Prodh<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for PRODH Gene

miRTarBase miRNAs that target PRODH

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRODH

No data available for Transcription Factor Targets and HOMER Transcription for PRODH Gene

Localization for PRODH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRODH Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRODH gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
extracellular 2
peroxisome 2
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PRODH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005743 mitochondrial inner membrane TAS --
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with PRODH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PRODH Gene

Pathways & Interactions for PRODH Gene

genes like me logo Genes that share pathways with PRODH: view

UniProtKB/Swiss-Prot O43272-PROD_HUMAN

  • Pathway: Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 1/2.

SIGNOR curated interactions for PRODH Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PRODH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006560 proline metabolic process IEA,TAS 9385373
GO:0006562 proline catabolic process IEA,TAS --
GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress NAS 9305847
GO:0010133 proline catabolic process to glutamate IBA,IEA --
GO:0010942 positive regulation of cell death IDA 23743200
genes like me logo Genes that share ontologies with PRODH: view

Drugs & Compounds for PRODH Gene

Products:

  1. Drug

(8) Drugs for PRODH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Betaine Approved Nutra Enzyme, inhibitor 43
FAD Approved Pharma 0
Water Approved Pharma 0
NADH Approved Nutra 0
hydroxyproline Experimental Pharma 0

(7) Additional Compounds for PRODH Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Pyrroline-5-carboxylic acid
  • 3,4-dihydro-2H-Pyrrole-2-carboxylate
  • Delta(1)-Pyrroline-5-carboxylic acid
  • 3,4-dihydro-2H-Pyrrole-2-carboxylic acid
  • 1-Pyrroline-5-carboxylate
  • delta(1)-Pyrroline-5-carboxylate
 2906-39-0
4-Hydroxy-L-glutamic acid
  • beta-Hydroxyglutamate
  • beta-Hydroxyglutamic acid
  • erythro-L-BHGA
  • Hydroxyglutamic acid, (DL)-isomer
  • Hydroxyglutamic acid, erythro-(DL)-isomer
 2485-33-8
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
L-4-Hydroxyglutamate semialdehyde
  • (4R)-4-Hydroxy-5-oxo-L-norvaline
  • 4-amino-3,4-Dideoxy-D-erythro-penturonic acid
  • L-4-Hydroxyglutamic acid semialdehyde
  • 4-amino-3,4-Dideoxy-D-erythro-penturonate
genes like me logo Genes that share compounds with PRODH: view

Transcripts for PRODH Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PRODH Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRODH

Alternative Splicing Database (ASD) splice patterns (SP) for PRODH Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: - - - - -
SP5:
SP6: - - - -
SP7:
SP8:

Relevant External Links for PRODH Gene

GeneLoc Exon Structure for
PRODH

Expression for PRODH Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRODH Gene

mRNA expression in normal human tissues for PRODH Gene
mRNA expression by BioGPS for PRODH GenemRNA expression by GTEx for PRODH Gene

Protein differential expression in normal tissues from HIPED for PRODH Gene

This gene is overexpressed in Bone (14.4), Brain (11.4), Frontal cortex (9.3), Fetal gut (7.4), Breast (7.3), and Spinal cord (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRODH Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRODH

SOURCE GeneReport for Unigene cluster for PRODH Gene:

Hs.517352

mRNA Expression by UniProt/SwissProt for PRODH Gene:

O43272-PROD_HUMAN
Tissue specificity: Expressed in lung, skeletal muscle and brain, to a lesser extent in heart and kidney, and weakly in liver, placenta and pancreas.

Evidence on tissue expression from TISSUES for PRODH Gene

  • Nervous system(4.7)
  • Kidney(4.5)
  • Skin(2.8)
  • Intestine(2.1)
  • Muscle(2.1)
  • Liver(2.1)
  • Lung(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRODH Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • head
Abdomen:
  • kidney
Pelvis:
  • ureter
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with PRODH: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for PRODH Gene

Orthologs for PRODH Gene

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

Orthologs for PRODH Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
 Mammalia PRODH 30 31
  • 86.73 (n)
 OneToOne
Chimpanzee
(Pan troglodytes)
 Mammalia PRODH 30
  • 85.37 (n)
Cow
(Bos Taurus)
 Mammalia PRODH 30 31
  • 84.2 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Prodh 30 17 31
  • 82.47 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Prodh 30
  • 81.75 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia PRODH 31
  • 71 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PRODH 30 31
  • 77.49 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PRODH 31
  • 69 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100494891 30
  • 67.03 (n)
Zebrafish
(Danio rerio)
 Actinopterygii PRODH (3 of 3) 31
  • 75 (a)
 OneToMany
PRODH (2 of 3) 31
  • 69 (a)
 OneToMany
LOC100537991 30
  • 67.99 (n)
prodha 31
  • 54 (a)
 OneToMany
Dr.12460 30
Fruit Fly
(Drosophila melanogaster)
 Insecta slgA 30 31 32
  • 56.11 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003860 30
  • 54.46 (n)
Worm
(Caenorhabditis elegans)
 Secernentea CELE_B0513.5 30
  • 51.63 (n)
B0513.5 31 32
  • 41 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PUT1 31 33
  • 20 (a)
 OneToMany
Species where no ortholog for PRODH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PRODH Gene

ENSEMBL:
Gene Tree for PRODH (if available)
TreeFam:
Gene Tree for PRODH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRODH: view image

Paralogs for PRODH Gene

Paralogs for PRODH Gene

(1) SIMAP similar genes for PRODH Gene using alignment to 5 proteins:

  • PROD_HUMAN
  • C9JIW4_HUMAN
  • E7EQL6_HUMAN
  • H7C363_HUMAN
  • H7C3U9_HUMAN

Pseudogenes.org Pseudogenes for PRODH Gene

genes like me logo Genes that share paralogs with PRODH: view

Variants for PRODH Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRODH Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
650558 Uncertain Significance: Proline dehydrogenase deficiency 18,931,081(-) G/A MISSENSE_VARIANT
661118 Uncertain Significance: Proline dehydrogenase deficiency 18,919,717(-) C/T MISSENSE_VARIANT
697519 Likely Benign: Proline dehydrogenase deficiency 18,919,529(-) G/A SYNONYMOUS_VARIANT
702032 Likely Benign: Proline dehydrogenase deficiency 18,916,953(-) T/C MISSENSE_VARIANT
702080 Benign: Proline dehydrogenase deficiency 18,936,274(-) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PRODH Gene

Structural Variations from Database of Genomic Variants (DGV) for PRODH Gene

Variant ID Type Subtype PubMed ID
dgv1283e212 CNV gain 25503493
dgv1284e212 CNV gain 25503493
dgv1285e212 CNV loss 25503493
dgv169n111 CNV duplication 26073780
dgv173e55 CNV gain 17911159
dgv174e55 CNV gain 17911159
dgv42e213 CNV gain 24956385
dgv4466n100 CNV gain+loss 25217958
dgv4467n100 CNV gain 25217958
dgv4468n100 CNV gain+loss 25217958
dgv4469n100 CNV gain 25217958
dgv4471n100 CNV gain 25217958
dgv4472n100 CNV loss 25217958
dgv4473n100 CNV gain+loss 25217958
dgv4474n100 CNV gain 25217958
dgv4475n100 CNV gain 25217958
dgv4476n100 CNV gain 25217958
dgv541n27 CNV gain 19166990
dgv542n27 CNV loss 19166990
dgv543n27 CNV gain 19166990
dgv7969n54 CNV gain 21841781
dgv7971n54 CNV gain 21841781
dgv7972n54 CNV gain+loss 21841781
dgv7973n54 CNV gain 21841781
dgv7975n54 CNV loss 21841781
dgv7976n54 CNV gain 21841781
dgv7977n54 CNV gain 21841781
dgv99e203 CNV gain+loss 21179565
esv22247 CNV gain+loss 19812545
esv2751935 CNV loss 17911159
esv2758824 CNV gain+loss 17122850
esv32687 CNV gain+loss 17666407
esv3568246 CNV loss 25503493
esv3575418 CNV gain 25503493
esv3584483 CNV gain 24956385
esv3584485 CNV gain 24956385
esv3647249 CNV loss 21293372
esv3647250 CNV gain 21293372
esv3893431 CNV gain+loss 25118596
esv3893432 CNV gain 25118596
esv3893433 CNV gain 25118596
nsv1063432 CNV loss 25217958
nsv1067175 CNV loss 25217958
nsv1160726 CNV duplication 26073780
nsv442503 CNV gain 18776908
nsv459336 CNV loss 19166990
nsv471179 CNV gain 18288195
nsv471180 CNV loss 18288195
nsv516997 CNV gain+loss 19592680
nsv588155 CNV gain 21841781
nsv588165 CNV gain 21841781
nsv588166 CNV loss 21841781
nsv588196 CNV gain 21841781
nsv588201 CNV loss 21841781
nsv588203 CNV gain+loss 21841781
nsv953020 CNV deletion 24416366
nsv979632 CNV duplication 23825009

Variation tolerance for PRODH Gene

Residual Variation Intolerance Score: 95.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.32; 88.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRODH Gene

Human Gene Mutation Database (HGMD)
PRODH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRODH

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRODH Gene

Disorders for PRODH Gene

MalaCards: The human disease database

(209) MalaCards diseases for PRODH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperprolinemia, type i
  • hyrpro1
schizophrenia 4
  • sczd4
hyperprolinemia
  • proline oxidase deficiency
schizoaffective disorder
  • schizo-affective psychosis
psychotic disorder
  • mental or behavioural disorder
- elite association - COSMIC cancer census association via MalaCards
Search PRODH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PROD_HUMAN
  • Hyperprolinemia 1 (HYRPRO1) [MIM:239500]: An inborn error of proline metabolism resulting in elevated levels of proline in the plasma and urine. The disorder is generally benign and most affected individuals are clinically asymptomatic. Some patients, however, have neurologic manifestations, including epilepsy and mental retardation. Association with certain forms of schizophrenia have been reported. {ECO:0000269 PubMed:12217952, ECO:0000269 PubMed:15662599, ECO:0000269 PubMed:17135275}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Schizophrenia 4 (SCZD4) [MIM:600850]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269 PubMed:11891283, ECO:0000269 PubMed:15662599}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for PRODH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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No data available for Genatlas for PRODH Gene

Publications for PRODH Gene

  1. PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. (PMID: 12217952) Jacquet H … Frébourg T (Human molecular genetics 2002) 3 4 23 41
  2. Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. (PMID: 11891283) Liu H … Karayiorgou M (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 23 41
  3. The gene encoding proline dehydrogenase modulates sensorimotor gating in mice. (PMID: 10192398) Gogos JA … Karayiorgou M (Nature genetics 1999) 2 3 4 23
  4. Genetic variation in COMT and PRODH is associated with brain anatomy in patients with schizophrenia. (PMID: 17504246) Zinkstok J … Linszen D (Genes, brain, and behavior 2008) 3 23 41
  5. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. (PMID: 17135275) Raux G … Campion D (Human molecular genetics 2007) 3 4 23

ExternalLinks

View latest publications for PRODH gene in Mastermind

Products for PRODH Gene

  • Signalway ELISA kits for PRODH
  • Signalway Proteins for PRODH

Sources for PRODH Gene