PRODH2 (proline dehydrogenase 2)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
58510
Gene name Gene Name - the full gene name approved by the HGNC.
Proline dehydrogenase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRODH2
Synonyms (NCBI Gene) Gene synonyms aliases
HSPOX1, HYPDH
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0004657 Function Proline dehydrogenase activity IBA 21873635
GO:0004657 Function Proline dehydrogenase activity TAS
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0006562 Process Proline catabolic process TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616377 17325 ENSG00000250799
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Arginine and proline metabolism
Metabolic pathways 		  Glyoxylate metabolism and glycine degradation
Proline catabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 11891283
Show/Hide Text Mining Associations (5)
Associations from Text Mining
Disease Name Relationship Type References
Hyperoxaluria Associate 25697095
Hyperoxaluria Primary Associate 25697095
Leukocyte adhesion deficiency type 1 Associate 35276062
Neoplasms Associate 35276062
Schizophrenia Associate 28720891