Gene Report

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Basic Info

Approved Symbol	MPC2
Previous Symbol	BRP44
Symbol Alias	DKFZP564B167
Approved Name	mitochondrial pyruvate carrier 2
Previous Name	brain protein 44
Location	1q24
Position	chr1:167916729-167937040, -1
External Links	HGNC: 24515 Entrez Gene: 25874 Ensembl: ENSG00000143158 UCSC: uc001get.3
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
Saito T., 2014	SNP: rs10489202	The associated SNP in this gene showed no significant association with BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 10)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0005634	nucleus	cellular component	IDA[21630459]	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006850	mitochondrial pyruvate transport	biological process	IEA	1
GO:0050833	pyruvate transmembrane transporter activity	molecular function	IEA	1
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0006090	pyruvate metabolic process	biological process	TAS	1
GO:0044237	cellular metabolic process	biological process	TAS	3
GO:1901475	pyruvate transmembrane transport	biological process	IEA	1
GO:0005743	mitochondrial inner membrane	cellular component	IEA	12
GO:0005739	mitochondrion	cellular component	IDA	75

Gene related KEGG pathways (count: 0)

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: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10489202	chr1:167933841 - 167933841(1)	intron_variant; upstream_gene_variant	1(0/1/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs2420		chr1:167917264 - 167917264(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1p32.1-q31.1	chr1:58500000-190800000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)
1q24.2-q25.1	chr1:167200000-176100000	1 (0/1/0)

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

Gene relationship with SZ

Reference	Description	Result Category
24888570	The associated SNP in this gene showed significant association with SZ.	Positive

Gene relationship with MDD

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Region: chr1:167916729..167937040 View in gBrowse