Gene Report

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Basic Info

Approved Symbol	MTHFD1
Previous Symbol	MTHFC, MTHFD
Approved Name	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
Location	14q24
Position	chr14:64388031-64463457, 1
External Links	HGNC: 7432 Entrez Gene: 4522 Ensembl: ENSG00000100714 UCSC: uc001xhb.3
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
Kempisty, B., 2007 (b)	Other variant: MTHFD_G1958A	MTHFD1 1958AA or 1958AG genotypes are linked to BDI	Positive	Comment on Study
Yosifova, A.,2009	SNP: rs2236225	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0046655	folic acid metabolic process	biological process	TAS	2
GO:0005739	mitochondrion	cellular component	IEA	75
GO:0005829	cytosol	cellular component	IBA; TAS	223
GO:0004329	formate-tetrahydrofolate ligase activity	molecular function	IBA; TAS	1
GO:0004477	methenyltetrahydrofolate cyclohydrolase activity	molecular function	IBA; TAS	1
GO:0009086	methionine biosynthetic process	biological process	IEA	3
GO:0006767	water-soluble vitamin metabolic process	biological process	TAS	5
GO:0006766	vitamin metabolic process	biological process	TAS	5
GO:0006164	purine nucleotide biosynthetic process	biological process	IEA	2
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0035999	tetrahydrofolate interconversion	biological process	IEA	2
GO:0000105	histidine biosynthetic process	biological process	IEA	1
GO:0005524	ATP binding	molecular function	IEA	118
GO:0006730	one-carbon metabolic process	biological process	IBA	2
GO:0004486	methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity	molecular function	TAS	1
GO:0055114	oxidation-reduction process	biological process	IEA	43
GO:0004488	methylenetetrahydrofolate dehydrogenase (NADP+) activity	molecular function	IBA	1
GO:0009396	folic acid-containing compound biosynthetic process	biological process	IEA	1
GO:0044281	small molecule metabolic process	biological process	TAS	117

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00630	Glyoxylate and dicarboxylate 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: 0)

Related other genetic factors

Gene related SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2236225	chr14:64442127 - 64442127(1)	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs10133855	chr14:64423509 - 64423509(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2236224	chr14:64442433 - 64442433(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1256142	chr14:64444076 - 64444076(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_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)
MTHFD_G1958A	point mutation		1 (1/0/0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
14q23	chr14:57600000-67400000	2 (0/2/0)
14q22-24	chr14:50400000-78800000	1 (0/0/1)
Chr 14	chr14:0-107043718	2 (0/2/0)
14q13.1-q24.1	chr14:32900000-69800000	1 (0/1/0)

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

Gene relationship with SZ

Reference	Description	Result Category
17417062	MTHFD1 1958AA or 1958AG genotypes are linked to schizophrenia	Positive

Reference	ID in SZGene	Result Category
17417062	491	Positive

Gene relationship with MDD

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Region: chr14:64388031..64463457 View in gBrowse