PRODH2 - proline dehydrogenase 2 Gene

Homo sapiens

Also known as HYPDH; HSPOX1

Gene ID: 58510 | Gene type: protein coding

About PRODH2

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,799,988-35,812,845 (from NCBI)

This gene has 7 transcripts (splice variants), 172 orthologues and 2 paralogues. Restricted expression toward kidney (RPKM 100.5).

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]

PRODH2 Products(4)

mRNA	Protein	Name
NM_001378292.1	NP_001365221.1	hydroxyproline dehydrogenase isoform 2
NM_001378293.1	NP_001365222.1	hydroxyproline dehydrogenase isoform 3
NM_001378294.1	NP_001365223.1	hydroxyproline dehydrogenase isoform 4
NM_021232.2	NP_067055.2	hydroxyproline dehydrogenase isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables oxidoreductase activity, acting on the CH-NH group of donors	IDA IDA: Inferred from direct assay	25697095	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PRODH2 Protein Structure

Pro_dh

0
100
200
300
400
500
536 a.a.

Protein Preferred Names

Protein Names

hydroxyproline dehydrogenase

kidney and liver proline oxidase 1

Related Diseases

Diseases

Alias

Velocardiofacial Syndrome

Shprintzen Syndrome	VCFS
Chromosome 22q11.2 Deletion Syndrome	Vcf Syndrome
Shprintzen Vcf Syndrome	Vcf-Velocardiofacial Syndrome
Velo-Cardio-Facial Syndrome	Digeorge Syndrome
22q11 Deletion Syndrome	Conotruncal Anomaly Face Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11193	PRODH2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PRODH2	MGD	MGI:1929093
Canis familiaris	PRODH2	VGNC	VGNC:45009
Macaca mulatta	PRODH2	VGNC	VGNC:76274
Felis catus	PRODH2	VGNC	VGNC:64366
Rattus norvegicus	PRODH2	RGD	RGD:1306761
Bos taurus	PRODH2	VGNC	VGNC:33360

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