Gene Report

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Basic Info

Approved Symbol	MTR
Symbol Alias	cblG
Approved Name	5-methyltetrahydrofolate-homocysteine methyltransferase
Location	1q43
Position	chr1:236795281-236903981, 1
External Links	HGNC: 7468 Entrez Gene: 4548 Ensembl: ENSG00000116984 UCSC: uc001hyi.4
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
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
Yosifova, A.,2009	SNP: rs1805087	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Kempisty, B., 2007 (b)	Other variant: MTR_A2756G	MTR 2756AGG or 2756AG genotypes are linked to BDI	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 18)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007399	nervous system development	biological process	TAS[8968737]	40

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008898	S-adenosylmethionine-homocysteine S-methyltransferase activity	molecular function	IEA	1
GO:0005515	protein binding	molecular function	IPI[23825108]	563
GO:0034641	cellular nitrogen compound metabolic process	biological process	TAS	20
GO:0006805	xenobiotic metabolic process	biological process	TAS	19
GO:0006767	water-soluble vitamin metabolic process	biological process	TAS	5
GO:0008270	zinc ion binding	molecular function	IEA	77
GO:0031419	cobalamin binding	molecular function	IEA	2
GO:0009086	methionine biosynthetic process	biological process	IMP[23825108]	3
GO:0042558	pteridine-containing compound metabolic process	biological process	IEA	1
GO:0006766	vitamin metabolic process	biological process	TAS	5
GO:0009235	cobalamin metabolic process	biological process	IMP[23825108]; TAS	2
GO:0032259	methylation	biological process	TAS	6
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0000096	sulfur amino acid metabolic process	biological process	TAS	3
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0005829	cytosol	cellular component	TAS	223
GO:0008705	methionine synthase activity	molecular function	IBA; IDA[16769880]; IMP[23825108]	1

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00271	Methionine metabolism	1
hsa00670	One carbon pool by folate	3

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
MTR	DYNLL1	NO	in vitro	14760703

Related other genetic factors

Gene related SNPs (count: 19)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1805087	chr1:236885200 - 236885200(1)	missense_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs12407420	chr1:236796703 - 236796703(1)	intron_variant; non_coding_transcript_variant
rs7536446	chr1:236860142 - 236860142(1)	intron_variant
rs3768136	chr1:236864153 - 236864153(1)	intron_variant
rs17599657	chr1:236853776 - 236853776(1)	downstream_gene_variant; intron_variant
rs10925250	chr1:236858830 - 236858830(1)	intron_variant
rs4659727	chr1:236843614 - 236843614(1)	intron_variant; non_coding_transcript_variant
rs4659730	chr1:236849220 - 236849220(1)	intron_variant; non_coding_transcript_variant
rs12138911	chr1:236813843 - 236813843(1)	intron_variant; non_coding_transcript_variant
rs2385504	chr1:236836356 - 236836356(1)	intron_variant; non_coding_transcript_variant
rs10925261	chr1:236889886 - 236889886(1)	intron_variant; upstream_gene_variant
rs10158222	chr1:236887382 - 236887382(1)	intron_variant
rs10158822	chr1:236886876 - 236886876(1)	intron_variant
rs2275565	chr1:236885376 - 236885376(1)	intron_variant
rs10925257	chr1:236882860 - 236882860(1)	intron_variant
rs4659736	chr1:236871484 - 236871484(1)	intron_variant
rs4659735	chr1:236869625 - 236869625(1)	intron_variant
rs10802568	chr1:236864785 - 236864785(1)	intron_variant
rs1804742	chr1:236899328 - 236899328(1)	3_prime_UTR_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
MTR_A2756G	point mutation		1 (1/0/0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 1	chr1:0-248956422	2 (0/2/0)

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

Gene relationship with SZ

Reference	Description	Result Category
17417062	MTR 2756AGG or 2756AG genotypes are linked to schizophrenia	Positive

Reference	ID in SZGene	Result Category
17417062	490	Positive

Gene relationship with MDD

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Region: chr1:236795281..236903981 View in gBrowse