Gene Report

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Basic Info

Approved Symbol	BDH1
Previous Symbol	BDH
Symbol Alias	SDR9C1
Approved Name	3-hydroxybutyrate dehydrogenase, type 1
Previous Name	3-hydroxybutyrate dehydrogenase (heart, mitochondrial)
Name Alias	short chain dehydrogenase/reductase family 9C, member 1
Location	3q29
Position	chr3:197509783-197573323, -1
External Links	HGNC: 1027 Entrez Gene: 622 Ensembl: ENSG00000161267 UCSC: uc003fxs.3
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Noor A., 2014		Selected stringent CNV related to this gene is validated by qPCR from BD case data.	Positive	Comment on Study
Schosser, A.,2011	SNP: rs891668	No significant association was observed.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 26)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007420	brain development	biological process	IEA	25

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0001889	liver development	biological process	IEA	14
GO:0044255	cellular lipid metabolic process	biological process	TAS	13
GO:0046951	ketone body biosynthetic process	biological process	TAS	1
GO:0032868	response to insulin	biological process	IEA	10
GO:0060612	adipose tissue development	biological process	IEA	5
GO:0005759	mitochondrial matrix	cellular component	TAS	11
GO:0007584	response to nutrient	biological process	IEA	10
GO:0005739	mitochondrion	cellular component	IDA	75
GO:0005543	phospholipid binding	molecular function	IEA	8
GO:0060416	response to growth hormone	biological process	IEA	2
GO:0009636	response to toxic substance	biological process	IEA	12
GO:0042493	response to drug	biological process	IEA	57
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0051412	response to corticosterone	biological process	IEA	9
GO:0003858	3-hydroxybutyrate dehydrogenase activity	molecular function	IDA[8679568]; TAS	1
GO:0046952	ketone body catabolic process	biological process	TAS	2
GO:0046950	cellular ketone body metabolic process	biological process	TAS	2
GO:0045471	response to ethanol	biological process	IEA	24
GO:0042594	response to starvation	biological process	IEA	8
GO:0055114	oxidation-reduction process	biological process	IEA	43
GO:0046686	response to cadmium ion	biological process	IEA	3
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0032355	response to estradiol	biological process	IEA	11
GO:0005743	mitochondrial inner membrane	cellular component	IEA	12

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00072	Synthesis and degradation of ketone bodies	2
hsa00650	Butanoate metabolism	7

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)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs891668	chrCHR_HSCHR3_2_CTG3:197406482 - 197406482(-1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1(0/1/0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Abdul Noor[2014]_5	chr3:198394479-198832486 (NCBI Build 36/hg18)	438000	3q29	duplication
CNV_Abdul Noor[2014]_26	chr3:198394479-198828573 (NCBI Build 36/hg18)	434000	3q29	duplication

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3q29	chr3:192600000-198295559	2 (1/0/1)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr3:197509783..197573323 View in gBrowse