ADHDgene Database

Gene Report

Basic Info

Approved Symbol	MTHFR
Approved Name	methylenetetrahydrofolate reductase (NAD(P)H)
Previous Name	5,10-methylenetetrahydrofolate reductase (NADPH)
Location	1p36.3
Position	chr1:11845780-11866977, -
External Links	HGNC: 7436 Entrez Gene: 4524 Ensembl: ENSG00000177000 UCSC: uc001atc.1
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Ergul, E., 2012	Thus, the MTHFR gene does not seem to play a role in the etiopathogenesis of ADHD in the cohort studied.	Non-significant

Gene related SNPs (count: 11)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs1801131	Chr1:11854476(Fwd)	downstream_gene_variant; missense_variant	1(0/1/0)
rs1801133	Chr1:11856378(Fwd)	downstream_gene_variant; missense_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs1476413	Chr1:11852300(Fwd)	downstream_gene_variant; intron_variant
rs12121543	Chr1:11854671(Fwd)	intron_variant
rs1994798	Chr1:11854755(Fwd)	intron_variant
rs6541003	Chr1:11855867(Fwd)	intron_variant
rs4846052	Chr1:11857951(Fwd)	downstream_gene_variant; intron_variant
rs4846054	Chr1:11869230(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs4846049	Chr1:11850365(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs4845882	Chr1:11843167(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs3818762	Chr1:11851003(Fwd)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0004489	methylenetetrahydrofolate reductase (NADPH) activity	Molecular Function		1
GO:0050667	homocysteine metabolic process	Biological Process		3
GO:0046655	folic acid metabolic process	Biological Process		4
GO:0072341	modified amino acid binding	Molecular Function		3
GO:0008015	blood circulation	Biological Process	TAS[7647779]	12
GO:0009086	methionine biosynthetic process	Biological Process		2
GO:0035999	tetrahydrofolate interconversion	Biological Process		4
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0005829	cytosol	Cellular Component		447
GO:0006520	cellular amino acid metabolic process	Biological Process	TAS[7647779]	8
GO:0006766	vitamin metabolic process	Biological Process		13
GO:0006767	water-soluble vitamin metabolic process	Biological Process		13

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa01100	Metabolic pathways	237
hsa00670	One carbon pool by folate	6

Genes shared at least 5 GO terms with MTHFR (count: 2)

Gene Symbol	Pathway Count	Pathway List
SHMT1	6	folic acid metabolic process; tetrahydrofolate interconversion; small molecule metabolic process; cytosol; vitamin metabolic process; water-soluble vitamin metabolic process;
DHFRP1	5	folic acid metabolic process; small molecule metabolic process; cytosol; vitamin metabolic process; water-soluble vitamin metabolic process;

Genes shared at least 2 KEGG pathways with MTHFR (count: 4)

Gene Symbol	Pathway Count	Pathway List
ATIC	2	Metabolic pathways; One carbon pool by folate;
MTHFD2L	2	Metabolic pathways; One carbon pool by folate;
SHMT1	2	Metabolic pathways; One carbon pool by folate;
SHMT2	2	Metabolic pathways; One carbon pool by folate;

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Region: chr1:11845780..11866977 View in gBrowse