Gene Page:MTHFR

Summary?
GeneID 4524
Symbol MTHFR
Synonyms -
Description methylenetetrahydrofolate reductase (NAD(P)H)
Reference MIM:607093|HGNC:HGNC:7436|Ensembl:ENSG00000177000|HPRD:06158|Vega:OTTHUMG00000002277
Gene type protein-coding
Map location 1p36.3
Pascal p-value 0.084
Fetal beta 0.526
eGene 元

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:GWASdb Genome-wide Association Studies GWASdb records for schizophrenia
CV:PGCnp Genome-wide Association Study GWAS
PMID:cooccur High-throughput literature-search 系统搜索PubMed的genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Association A combined odds ratio method (Sun et al. 2008), association studies 3 Link to SZGene
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenics,schizophrenias,schizotypal Click to show details
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 3
Network Shortest path distance of core genes in the Human protein-protein interaction network Contribution to shortest path in PPI network: 31

Section I. Genetics and epigenetics annotation


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0004489 methylenetetrahydrofolate reductase (NADPH) activity EXP glutamate (GO term level: 6) 7726158
GO:0004489 methylenetetrahydrofolate reductase (NADPH) activity IEA glutamate (GO term level: 6) -
GO:0004489 methylenetetrahydrofolate reductase (NADPH) activity TAS glutamate (GO term level: 6) 7647779
GO:0005515 protein binding 新闻学会 15231747
GO:0016491 oxidoreductase activity IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0009086 methionine biosynthetic process IEA -
GO:0006520 amino acid metabolic process TAS 7647779
GO:0008015 blood circulation TAS 7647779
GO:0055114 oxidation reduction IEA -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005829 cytosol EXP 7726158

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG ONE CARBON POOL BY FOLATE 17 12 All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF VITAMINS AND COFACTORS 51 36 All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN UP 1142 669 All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN UP 612 367 All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN 800 473 All SZGR 2.0 genes in this pathway
BENPORATH MYC TARGETS WITH EBOX 230 156 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3 720 440 All SZGR 2.0 genes in this pathway
STEARMAN LUNG CANCER EARLY VS LATE UP 125 89 All SZGR 2.0 genes in this pathway
MATZUK SPERMATOZOA 114 77 All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305 895 All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103 714 All SZGR 2.0 genes in this pathway
MIKKELSEN ES ICP WITH H3K4ME3 718 401 All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824 528 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-22 132 139 1A,m8 hsa-miR-22brain AAGCUGCCAGUUGAAGAACUGU
miR-24 1957 1964 1A,m8 hsa-miR-24SZ UGGCUCAGUUCAGCAGGAACAG