Gene Report

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Basic Info

Approved Symbol	PRODH
Symbol Alias	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6
Approved Name	proline dehydrogenase (oxidase) 1
Previous Name	proline dehydrogenase (proline oxidase )
Location	22q11.2
Position	chr22:18912777-18936553, -1
External Links	HGNC: 9453 Entrez Gene: 5625 Ensembl: ENSG00000100033 UCSC: uc002zok.4
No. of Studies	4 (Positive: 0; Negative: 4; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 4)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Abou Jamra, R.,2005(a)	Haplotype: PRODH1945 - PRODH1482(), PRODH2026 - PRODH1945(), PRODH2026 - PRODH1945 - PRODH1482() Other variant: PRODH-1482, PRODH-1945, PRODH-2026	In conclusion, our results do not support a significant role of common variation at the PRODH locus contributing to the development of schizophrenia or BPAD.	Negative	Comment on Study
Fallin, M. D.,2005		6 SNP typed, Median D'=0.66, Median r<sup>2</sup> =0.03, 4 LD blocks, 0.07 block coverage, there exists SNP or haplotype nominal P-value > 0.01 and <0.05 in SZ/SZA and all SNP or haplotype P-value > 0.05 in BP.. This gene is suggestive to SZ/SZA , not suggestive to BP.	Negative	Comment on Study
Jacquet, H.,2005	Other variant: PRODH_exon12_A472T, PRODH_exon12_R431H	We found no association between common PRODH polymorphisms and any of the psychotic disorders.	Negative	Comment on Study
Prata, D. P., 2006	SNP: rs1808320, rs372055, rs383964, rs385440, rs450046	Our work does not support an involvement of RGS4, PRODH, COMTand GRK3 genes in the aetiology of bipolar affective disorder 1 in the Scottish population.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0055114	oxidation-reduction process	biological process	IEA	43
GO:0019470	4-hydroxyproline catabolic process	biological process	TAS[21998747]	1
GO:0005759	mitochondrial matrix	cellular component	IEA	11
GO:0034641	cellular nitrogen compound metabolic process	biological process	TAS	20
GO:0004657	proline dehydrogenase activity	molecular function	IDA[15662599]	1
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	biological process	NAS[9305847]	4
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0005743	mitochondrial inner membrane	cellular component	TAS	12
GO:0006560	proline metabolic process	biological process	TAS[9385373]	1
GO:0006562	proline catabolic process	biological process	TAS	2
GO:0010133	proline catabolic process to glutamate	biological process	IEA	1
GO:0071949	FAD binding	molecular function	IDA[15662599]	3

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00330	Arginine and proline metabolism	4

Gene related BioCarta pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
argininecPathway	Catabolic Pathways for Arginine , Histidine, Glutamate, Glutamine, and Proline	1

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 14)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs450046	chr22:18913491 - 18913491(1)	3_prime_UTR_variant; downstream_gene_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)
rs385440	chr22:18913577 - 18913577(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)
rs383964	chr22:18913156 - 18913156(1)	3_prime_UTR_variant; downstream_gene_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)
rs372055	chr22:18913237 - 18913237(1)	3_prime_UTR_variant; downstream_gene_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant	1(1/0/0)
rs1808320	chr22:18921362 - 18921362(1)	downstream_gene_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs395440	chr22:18914365 - 18914365(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs452378	chr22:18914154 - 18914154(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs375735	chr22:18917237 - 18917237(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs3960073	chr22:18920904 - 18920904(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs375115	chr22:18917093 - 18917093(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs376425	chr22:18917461 - 18917461(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2540623	chr22:18917325 - 18917325(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs28750191	chr22:18917604 - 18917604(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs455135	chr22:18917482 - 18917482(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 5)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
PRODH-1482	point mutation		1 (0/1/0)
PRODH-1945	point mutation		1 (0/1/0)
PRODH-2026	point mutation		1 (0/1/0)
PRODH_exon12_A472T	point mutation	exon12	1 (0/1/0)
PRODH_exon12_R431H	point mutation	exon12	1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
22q11	chr22:15000000-25500000	1 (0/1/0)
22q11.2	chr22:17400000-25500000	2 (0/2/0)
Chr 22	chr22:0-50818468	2 (0/1/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Reference	Description	Result Category
16380905	This gene is suggestive to SZ/SZA , not suggestive to BP.	Trend
16094254	In conclusion, our results do not support a significant role of common variation at the PRODH locus contributing to the development of schizophrenia or BPAD.	Negative
15494707	We found no association between common PRODH polymorphisms and any of the psychotic disorders.	Negative

Gene relationship with MDD

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Region: chr22:18912777..18936553 View in gBrowse