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	AKR1D1
Previous Symbol	SRD5B1
Approved Name	aldo-keto reductase family 1, member D1
Previous Name	aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)
Name Alias	delta 4-3-ketosteroid-5-beta-reductase
Location	7q32-q33
Position	chr7:138002324-138117986, 1
External Links	HGNC: 388 Entrez Gene: 6718 Ensembl: ENSG00000122787 UCSC: uc003vtz.3
No. of Studies	2 (Positive: 0; Negative: 1; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Goes, F. S.,2012	SNP: rs10255295	OR = 1.31,P-value(Meta) = 0.00000473 Suggestive association was found.	Trend	Comment on Study
Steen, N. E.,2010	SNP: rs12668157, rs2306847, rs6467734	No significant association of AKR1D1 was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005496	steroid binding	molecular function	TAS[7508385]	4
GO:0007586	digestion	biological process	IDA[7508385]	6

GO terms by database search (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0070062	extracellular vesicular exosome	cellular component	IDA[23376485]	176
GO:0006707	cholesterol catabolic process	biological process	IDA[7508385]	2
GO:0006699	bile acid biosynthetic process	biological process	IDA[7508385]; TAS	1
GO:0055114	oxidation-reduction process	biological process	IDA[7508385]	43
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0008207	C21-steroid hormone metabolic process	biological process	IDA[7508385]	1
GO:0008206	bile acid metabolic process	biological process	TAS	2
GO:0005829	cytosol	cellular component	IDA[7508385]; TAS	223
GO:0047787	delta4-3-oxosteroid 5beta-reductase activity	molecular function	IEA	1
GO:0030573	bile acid catabolic process	biological process	IEA	1
GO:0008209	androgen metabolic process	biological process	IDA[7508385]	4

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00140	C21-Steroid hormone metabolism	1

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
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: 28)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10255295	chr7:138174020 - 138174020(1)	upstream_gene_variant	1(0/0/1)
rs2306847	chr7:138113847 - 138113847(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs6467734	chr7:138081070 - 138081070(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs12668157	chr7:138080061 - 138080061(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 24)

rs_ID	Location	Functional Annotation
rs2166188	chr7:138088817 - 138088817(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs6977075	chr7:138091121 - 138091121(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1872930	chr7:138116698 - 138116698(1)	3_prime_UTR_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs2120846	chr7:138088545 - 138088545(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs6980334	chr7:138103746 - 138103746(1)	intron_variant; non_coding_transcript_variant
rs1817686	chr7:138073924 - 138073924(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs8180809	chr7:138095879 - 138095879(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2352140	chr7:138087881 - 138087881(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10278929	chr7:138087171 - 138087171(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs12111721	chr7:138084060 - 138084060(1)	intron_variant; non_coding_transcript_variant
rs4728430	chr7:138083761 - 138083761(1)	intron_variant; non_coding_transcript_variant
rs10228366	chr7:138110159 - 138110159(1)	intron_variant; non_coding_transcript_variant
rs10954603	chr7:138109275 - 138109275(1)	intron_variant; non_coding_transcript_variant
rs1872929	chr7:138116667 - 138116667(1)	3_prime_UTR_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs2035647	chr7:138114823 - 138114823(1)	intron_variant; non_coding_transcript_variant
rs11982192	chr7:138111096 - 138111096(1)	intron_variant; non_coding_transcript_variant
rs10228704	chr7:138110460 - 138110460(1)	intron_variant; non_coding_transcript_variant
rs3805362	chr7:138109642 - 138109642(1)	intron_variant; non_coding_transcript_variant
rs7812287	chr7:138068929 - 138068929(1)	intron_variant; non_coding_transcript_variant
rs17169507	chr7:138072296 - 138072296(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10265064	chr7:138068774 - 138068774(1)	intron_variant; non_coding_transcript_variant
rs10954601	chr7:138068793 - 138068793(1)	intron_variant; non_coding_transcript_variant
rs2306846	chr7:138107028 - 138107028(1)	intron_variant; non_coding_transcript_variant
rs6943498	chr7:138082305 - 138082305(1)	intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 7	chr7:0-159345973	3 (0/3/0)
7q31-33	chr7:107800000-138500000	1 (0/1/0)

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 AKR1D1 with BD.	Positive

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

Reference	ID in SZGene	Result Category
20800085	976	Positive

Gene relationship with MDD

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Region: chr7:138002324..138117986 View in gBrowse