Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	SRD5A2
Approved Name	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
Location	2p23.1
Position	chr2:31522480-31581067, -1
External Links	HGNC: 11285 Entrez Gene: 6716 Ensembl: ENSG00000277893 UCSC: uc032nip.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Steen, N. E.,2010	SNP: rs6732223	No significant association of SRD5A2 was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 30)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030154	cell differentiation	biological process	IEA	31
GO:0016021	integral component of membrane	cellular component	IEA	219

GO terms by database search (count: 28)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0060348	bone development	biological process	IEA	3
GO:0007267	cell-cell signaling	biological process	TAS[1944596]	29
GO:0030540	female genitalia development	biological process	IEA	1
GO:0047751	cholestenone 5-alpha-reductase activity	molecular function	IEA	2
GO:0008584	male gonad development	biological process	IMP[1944596]	4
GO:0030539	male genitalia development	biological process	IEA	2
GO:0018894	dibenzo-p-dioxin metabolic process	biological process	IEA	1
GO:0031667	response to nutrient levels	biological process	IEA	7
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	molecular function	IEA	2
GO:0070852	cell body fiber	cellular component	IEA	3
GO:0018963	phthalate metabolic process	biological process	IEA	2
GO:0008202	steroid metabolic process	biological process	TAS	4
GO:0032354	response to follicle-stimulating hormone	biological process	IEA	1
GO:0018879	biphenyl metabolic process	biological process	IEA	1
GO:0043434	response to peptide hormone	biological process	IEA	9
GO:0021766	hippocampus development	biological process	IEA	7
GO:0033574	response to testosterone	biological process	IEA	2
GO:0005789	endoplasmic reticulum membrane	cellular component	TAS	52
GO:0043025	neuronal cell body	cellular component	IEA	50
GO:0021854	hypothalamus development	biological process	IEA	3
GO:0042493	response to drug	biological process	IEA	57
GO:0006702	androgen biosynthetic process	biological process	TAS	2
GO:0055114	oxidation-reduction process	biological process	IEA	43
GO:0033218	amide binding	molecular function	IEA	1
GO:0008209	androgen metabolic process	biological process	IDA[1944596]	4
GO:0006706	steroid catabolic process	biological process	IEA	1
GO:0009917	sterol 5-alpha reductase activity	molecular function	IDA[1944596]	1
GO:0044281	small molecule metabolic process	biological process	TAS	117

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 3)

ID	Name	No. of Genes in BDgene
hsa05215	Prostate cancer	18
hsa00120	Bile acid biosynthesis	6
hsa00150	Androgen and estrogen metabolism	3

Gene related BioCarta pathways (count: 0)

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

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs6732223	chr2:31517592 - 31517592(1)	downstream_gene_variant	1(0/1/0)

LD-proxies (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Zhang[2009]_36	chr2:31581547-31691315 (Affymetrix SNP 6.0 array reference genome)	109768		Singleton deletions

Gene related other variants (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 2	chr2:0-242193529	3 (0/3/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
20800085	There was a significant association of rs6732223 in SRD5A2 (5Î±-reductase) with SCZ.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
20800085	974	Positive

Gene relationship with MDD

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Region: chr2:31522480..31581067 View in gBrowse