Gene Report

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Basic Info

Approved Symbol	SPR
Symbol Alias	SDR38C1
Approved Name	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
Name Alias	short chain dehydrogenase/reductase family 38C, member 1
Location	2p14-p12
Position	chr2:72887360-72892158, 1
External Links	HGNC: 11257 Entrez Gene: 6697 Ensembl: ENSG00000116096 UCSC: uc002sik.2
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
McHugh, P. C.,2009	Haplotype: rs2421095 - rs1876487(A-A, A-A), rs2421095 - rs1876487(A-A, A-G), rs2421095 - rs1876487(C-A, A-A), rs2421095 - rs1876487(C-A, A-G), rs2421095 - rs1876487(C-A, C-A)	In conclusion, evidence is presented for an association between a particular SPR promoter haplotype pair 2, 3 and occurrence of bipolar I disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 23)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0042428	serotonin metabolic process	biological process	IEA	3
GO:0005829	cytosol	cellular component	TAS	223
GO:0004757	sepiapterin reductase activity	molecular function	ISS; TAS	1
GO:0046209	nitric oxide metabolic process	biological process	TAS	5
GO:0019889	pteridine metabolic process	biological process	IEA	1
GO:0055114	oxidation-reduction process	biological process	TAS[1883349]	43
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0005739	mitochondrion	cellular component	IEA	75
GO:0050999	regulation of nitric-oxide synthase activity	biological process	TAS	6
GO:0016265	death	biological process	IEA	3
GO:0042415	norepinephrine metabolic process	biological process	IEA	2
GO:0050661	NADP binding	molecular function	TAS[1883349]	5
GO:0006809	nitric oxide biosynthetic process	biological process	IDA[15197144]	8
GO:0006729	tetrahydrobiopterin biosynthetic process	biological process	TAS[1883349]	3
GO:0040014	regulation of multicellular organism growth	biological process	IEA	4
GO:0048667	cell morphogenesis involved in neuron differentiation	biological process	IEA	2
GO:0006558	L-phenylalanine metabolic process	biological process	IEA	1
GO:0042417	dopamine metabolic process	biological process	IEA	7
GO:0004033	aldo-keto reductase (NADP) activity	molecular function	TAS[1883349]	1
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0050882	voluntary musculoskeletal movement	biological process	IEA	1
GO:0005654	nucleoplasm	cellular component	IDA	163

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00790	Folate biosynthesis	7

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SPR	CAMK2G	NO	in vitro	11825621

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2p16.1-q11.2	chr2:54700000-102100000	1 (1/0/0)
2p16.2-p11.2	chr2:52600000-91800000	1 (1/0/0)
2p14-2p13.2	chr2:63900000-73300000	1 (0/0/1)
Chr 2	chr2:0-242193529	3 (0/3/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr2:72887360..72892158 View in gBrowse