PRODH2 (proline dehydrogenase 2)

Gene

• Entrez ID: 58510
• Gene name: Proline dehydrogenase 2
• Gene symbol: PRODH2
• Synonyms (NCBI Gene): HSPOX1, HYPDH
• Chromosome: 19
• Chromosome location: 19q13.12
• 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 i

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004657	Function	Proline dehydrogenase activity	IBA
GO:0004657	Function	Proline dehydrogenase activity	IEA
GO:0004657	Function	Proline dehydrogenase activity	TAS
GO:0005739	Component	Mitochondrion	IBA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006560	Process	Proline metabolic process	IEA
GO:0006562	Process	L-proline catabolic process	IEA
GO:0006562	Process	L-proline catabolic process	TAS
GO:0010133	Process	L-proline catabolic process to L-glutamate	IBA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016645	Function	Oxidoreductase activity, acting on the CH-NH group of donors	IDA	25697095
GO:0071949	Function	FAD binding	IBA

Other IDs

• MIM: 616377
• HGNC: 17325
• e!Ensembl: ENSG00000250799

Protein

• UniProt ID: Q9UF12
• Protein name: Hydroxyproline dehydrogenase (HYPDH) (EC 1.5.5.3) (Kidney and liver proline oxidase 1) (HsPOX1) (Probable proline dehydrogenase 2) (EC 1.5.5.2) (Probable proline oxidase 2)
• Protein function: Dehydrogenase that converts trans-4-L-hydroxyproline to delta-1-pyrroline-3-hydroxy-5-carboxylate (Hyp) using ubiquinone-10 as the terminal electron acceptor. Can also use proline as a substrate but with a very much lower efficiency. Does not re
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01619	Pro_dh	224 → 514	Proline dehydrogenase	Family

• Sequence:

  MSPRVVSNSSVLASQSVGITNVRTVFSNVFNNTTAFPILRGSNCHKITAPGLGKGQLVNL
  LPPENLPWCGGSQGPRMLRTCYVLCSQAGPPSRGWQSLSFDGGAFHLKGTGELTRALLVL
  RLCAWPPLVTHGLLLQAWSRRLLGSRLSGAFLRASVYGQFVAGETAEEVKGCVQQLRTLS
  LRPLLAVPTEEEPDSAAKSGEAWYEGNLGAMLRCVDLSRGLLEPPSLAEASLMQLKVTAL
  TSTRLCKELASWVRRPGASLELSPERLAEAMDSGQNLQVSCLNAEQNQHLRASLSRLHRV
  AQYARAQHVRLLVDAEYTSLNPALSLLVAALAVRWNSPGEGGPWVWNTYQACLKDTFERL
  GRDAEAAHRAGLAFGVKLVRGAYLDKERAVAQLHGMEDPTQPDYEATSQSYSRCLELMLT
  HVARHGPMCHLMVASHNEESVRQATKRMWELGIPLDGTVCFGQLLGMCDHVSLALGQAGY
  VVYKSIPYGSLEEVIPYLIRRAQENRSVLQGARREQELLSQELWRRLLPGCRRIPH

• Sequence length: 536

Pathways

KEGG:

Arginine and proline metabolism
Metabolic pathways

Reactome:

Glyoxylate metabolism and glycine degradation
Proline catabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRODH2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Hyperoxaluria	Associate	25697095	★☆☆☆☆ Found in Text Mining only
Hyperoxaluria Primary	Associate	25697095	★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Associate	35276062	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	35276062	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Associate	28720891	★★☆☆☆ Found in Text Mining + Unknown/Other Associations