MTR Gene
protein-coding GIFtS: 68
GCID: GC01P236958
|
|
5-methyltetrahydrofolate-homocysteine methyltransferase
| |
Aliases
for MTR gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| 5-Methyltetrahydrofolate-Homocysteine Methyltransferase1 2 | | 5-Methyltetrahydrofolate-Homocysteine Methyltransferase 12 | | CblG1 | | Cobalamin-Dependent Methionine Synthase2 | | Vitamin-B12 Dependent Methionine Synthase2 3 | | Methionine Synthase2 | | MS2 3 | | 5-Methyltetrahydrofolate--Homocysteine Methyltransferase3 | | EC 2.1.1.133 8 | | |
Export aliases for MTR gene to outside databasesPrevious GC identifers: GC01P235091 GC01P232412 GC01P233255 GC01P233999 GC01P233284 GC01P235025 GC01P207414 |
Summaries
for MTR gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MTR:
MTR encodes the enzyme 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known ascobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR havebeen identified as the underlying cause of methylcobalamin deficiency complementation group G. (provided by RefSeq,Jul 2008)
UniProtKB/Swiss-Prot: METH_HUMAN, Q99707Function: Catalyzes the transfer of a methyl group from methyl-cobalamin to homocysteine, yielding enzyme-boundcob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity)
Gene Wiki entry for MTR (Methionine synthase)
|
Genomic Views
for MTR gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_167186.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MTR gene promoter:
Spz1 Sox5 Sp1 GATA-3 NCX/Ncx CUTL1 Tal-1beta LCR-F1 GATA-2 ITF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for MTR
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTR |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q43 Ensembl cytogenetic band: 1q43 HGNC cytogenetic band: 1q43MTR Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P236958: view genomic region
(about GC identifiers)
Start:
|
236,958,581 bp from pter |
End:
|
237,067,281 bp from pter |
Size:
|
108,701 bases |
Orientation:
|
plus strand |
|
Proteins
for MTR gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: METH_HUMAN, Q99707 (See
protein sequence)Recommended Name: Methionine synthase Size: 1265 amino acids; 140527 Da
Cofactor: Methylcobalamin (MeCBL)
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subcellular location: Cytoplasm
Miscellaneous: L-homocysteine is bound via the zinc atom (By similarity)
1 PDB 3D structure from  and Proteopedia  for MTR:2O2K (3D)
Secondary accessions: A1L4N8 A9Z1W4 B9EGF7 Q99713 Q99723Explore the universe of human proteins at neXtProt for MTR: NX_Q99707
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q99707
4/27 DME Specific Peptides for MTR (Q99707) (see all 27)
MTR Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000245.2
ENSEMBL proteins: ENSP00000355536 ENSP00000355535 ENSP00000402255 ENSP00000441845 Reactome Protein details: Q99707
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
MTR for ontologies About GeneDecksing
MTR Antibody Products:
Assay Products for MTR: |
Protein
Domains /
Families
for MTR gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MTR for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry Q99707ProtoNet protein and cluster: Q99707 3 Blocks protein families: IPB003726 Homocysteine S-methyltransferase IPB004223 Vitamin B12 dependent methionine synthase activation domain IPB006158 Coenzyme B12-binding
UniProtKB/Swiss-Prot: METH_HUMAN, Q99707Domain: Modular enzyme with four functionally distinct domains. The isolated Hcy-binding domain catalyzes methyltransfer from free methylcobalamin to homocysteine. The Hcy-binding domain in association with the pterin-bindingdomain catalyzes the methylation of cob(I)alamin by methyltetrahydrofolate and the methylation of homocysteine. TheB12-binding domain binds the cofactor. The AdoMet activation domain binds S-adenosyl-L-methionine. Under aerobicconditions cob(I)alamin can be converted to inactive cob(II)alamin. Reductive methylation by S-adenosyl-L-methionineand flavodoxin regenerates methylcobalamin (By similarity)Similarity: Belongs to the vitamin-B12 dependent methionine synthase familySimilarity: Contains 1 AdoMet activation domainSimilarity: Contains 1 B12-binding domainSimilarity: Contains 1 B12-binding N-terminal domainSimilarity: Contains 1 Hcy-binding domainSimilarity: Contains 1 pterin-binding domain |
Function
for MTR gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: METH_HUMAN, Q99707Function: Catalyzes the transfer of a methyl group from methyl-cobalamin to homocysteine, yielding enzyme-boundcob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity)Catalytic activity: 5-methyltetrahydrofolate + L-homocysteine = tetrahydrofolate + L-methionine Genatlas biochemistry entry for MTR:5-methyl tetrahydrofolate (THF),homocysteine methyltransferase,methionine synthase,140kDa,methylcobolamindependent,sulfur aminoacid metabolism,no evidence of association with neural tube defects (NTD) in Netherlands andU.K.
Enzyme Number (IUBMB): EC 2.1.1.131 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTR (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTR
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MTR (NM_000254) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MTR | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTR |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTR |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
MTR for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MTR:
Animal Models:
Mouse knock-out Mtrtm1Lcb for MTR
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Mtr):
MTR for phenotypes About GeneDecksing
|
Pathways & Interactions
for MTR gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Methionine metabolism | | | 2 | Antimetabolite Pathway - Folate Cycle, Pharmacodynamics | | | 3 | Sulfur amino acid metabolism | | | 4 | Metabolism | | | 5 | One Carbon Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for MTR
1  GeneGo (Thomson Reuters) Pathway for MTR
5  BioSystems Pathways for MTR
5/6 
Reactome Pathways for MTR (see all 6)
3  PharmGKB Pathways for MTR
4 
Kegg Pathways (Kegg details for MTR):
UniProtKB/Swiss-Prot: METH_HUMAN, Q99707Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (MetHroute): step 1/1
MTR for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MTR
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/34 Interacting proteins for MTR (Q997071, 3 ENSP000003555364) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
About this table
Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table
MTR for ontologies About GeneDecksing
|
Drugs & Compounds
for MTR gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MTR for compounds About GeneDecksing
 Browse Tocris compounds for MTR
10/13 HMDB Compounds for MTR (see all 13) About this table
4 DrugBank Compounds for MTR About this table
10/60 Novoseek chemical compound relationships for MTR gene (see all 60) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| methionine |
95.4 |
1056 |
1627355 (8), 1602376 (7), 11371572 (7), 11158293 (6) (see all 99) |
| methylcobalamin |
93.6 |
64 |
8652590 (3), 1748723 (3), 8487649 (3), 1744096 (2) (see all 30) |
| 5-methyltetrahydrofolate |
92.7 |
50 |
8005024 (2), 11730351 (2), 8652590 (1), 11237340 (1) (see all 37) |
| homocysteine |
92.7 |
260 |
12482550 (7), 1602376 (5), 8099783 (3), 18281142 (3) (see all 99) |
| cobalamin |
92.6 |
97 |
10377254 (3), 15319544 (3), 11371572 (3), 17477549 (3) (see all 57) |
| folate |
91.5 |
205 |
11257268 (6), 15117811 (3), 18844488 (3), 11371572 (3) (see all 99) |
| cystathionine |
90.5 |
65 |
19094252 (2), 10704624 (2), 17937607 (2), 17726616 (2) (see all 44) |
| vitamin b12 |
89.5 |
76 |
10780318 (3), 9453374 (2), 19838916 (2), 19339913 (2) (see all 59) |
| cob(ii)alamin |
88.8 |
12 |
19243433 (1), 9730838 (1), 14717604 (1), 9501215 (1) (see all 10) |
| l-methylmalonyl-coa |
86.8 |
7 |
7901104 (2), 8099783 (1), 11935176 (1), 8507652 (1) (see all 6) |
2 PharmGKB related drug/compound annotations for MTR geneAbout this table
Search CenterWatch for drugs/clinical trials and news about MTR / METH
|
Transcripts
for MTR gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MTR gene: NM_000254.2 Unigene Cluster for MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase Hs.498187 [show with all ESTs]Unigene Representative Sequence: NM_0002546 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000366577(uc001hyi.4 uc010pxw.2 uc010pxx.2 uc010pxy.2)
ENST00000463959(uc009xgj.1) ENST00000366576 ENST00000470570 ENST00000418145(uc010pxv.1)
ENST00000535889
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTR (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTR
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MTR (NM_000254) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MTR | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTR |
Additional cDNA sequence: AK090487.1 AK125206.1 AK127317.1 AK294270.1 AK299904.1 AK307390.1 AY429553.1 BC015894.1 BC067276.1 BC130616.1 BC136440.1 BC144095.1 BC144097.1 BC144098.1 BX641132.1 U71285.1 U73338.1 U75743.1 11 DOTS entries: DT.212613 DT.91656110 DT.95088758 DT.100682539 DT.91747359 DT.102831022 DT.102831021 DT.100783258 DT.91849389 DT.95258735 DT.91898644 24/174 AceView cDNA sequences (see all 174): AI425009 BM472454 AA975197 AA857538 AL598311 BI962573 AL041796 BE463498 CD512766 BU189680 BI793260 CD675851 AA356439 AV725573 AY429553 BE219248 BE879216 AI379052 AI360399 AW770636 BU616938 BP348983 AA085465 AW299977
GeneLoc Exon Structure
|
Expression
for MTR gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MTR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGACATTGTT
About this image
See MTR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MTR
SOURCE GeneReport for Unigene cluster: Hs.498187
UniProtKB/Swiss-Prot: METH_HUMAN, Q99707Tissue specificity: Widely expressed. Expressed at the highest levels in pancreas, heart, brain, skeletal muscle andplacenta. Expressed at lower levels in lung, liver and kidney
SABiosciences Expression via Pathway-Focused PCR Array including MTR:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MTR
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MTR | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTR | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTR | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTR |
Orthologs
for MTR gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for MTR gene from 7/23 species (see all 23) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Mtr1 , 5 |
5-methyltetrahydrofolate-homocysteine methyltransferase1, 5 |
88.55(n)1
92.09(a)1 |
|
13 (4.52 cM)5
2385051 NM_001081128.31 NP_001074597.11
121865425 |
chicken
(Gallus gallus) |
Aves |
MTR1 |
5-methyltetrahydrofolate-homocysteine methyltransferase |
78.69(n)
84.1(a) |
|
422069 NM_001031104.1 NP_001026275.1 |
lizard
(Anolis carolinensis) |
Reptilia |
MTR6 |
-- |
82(a) |
1 ↔ 1 |
1(218728178-218819622) |
zebrafish
(Danio rerio) |
Actinopterygii |
mtr2 |
5-methyltetrahydrofolate-homocysteine methyltransferase |
75.04(n) |
|
378847 AF506733.1 |
honey bee
(Apis mellifera) |
Insecta |
-- |
-- |
21(a) |
1 ↔ 1 |
GroupUn.4842(74-910) |
worm
(Caenorhabditis elegans) |
Secernentea |
R03D7.13
metr-11 |
5-methyltetrahydrofolate-homocysteine
methyltransferase3
Protein METR-11 |
63(a)3
61.95(n)1
64.36(a)1 |
|
II(10926473-10930792)3
1746811 NM_063952.31 NP_496353.11 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
metH6 |
homocysteine-N5-methyltetrahydrofolate transmethyl... |
55(a) |
1 ↔ 1 |
Chromosome(4221851-4225534) |
ENSEMBL Gene Tree for MTR (if available)
TreeFam Gene Tree for MTR (if available) |
Paralogs
for MTR gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for MTR gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MTR (236958581 - 237067281 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MTR: --
Human Gene Mutation Database (HGMD): MTR
Locus Specific Mutation Databases (LSDB): MTR
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTR |
|
Disorders
/ Diseases
for MTR gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MTR for disorders About GeneDecksing
OMIM gene information: 156570
OMIM disorders: 250940 601634 190685
UniProtKB/Swiss-Prot: METH_HUMAN, Q99707
Defects in MTR are the cause of methylcobalamin deficiency type G (cblG) [MIM:250940]; also known ashomocystinuria-megaloblastic anemia complementation type G. It is an autosomal recessive inherited disease that causesmental retardation, macrocytic anemia, and homocystinuria. Mild deficiency in MS activity could be associated withmild hyperhomocysteinemia, a risk factor for cardiovascular disease and possibly neural tube defects. MS mutationscould also be involved in tumorigenesis Defects in MTR may be a cause of susceptibility to folate-sensitive neural tube defects (FS-NTD) [MIM:601634].The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Genetic defects in MTR may affect therisk of spina bifida via the maternal rather than the embryonic genotype
20/146  diseases for MTR (see all 146): About MalaCardsmethylcobalamin deficiency homocysteine neural tube defects, folate-sensitive cblg
neural tube defect disorders of intracellular cobalamin metabolism homocystinuria-megaloblastic anemia methylmalonic acidemia
b-cell non-hodgkin lymphoma diffuse large b-cell lymphoma methylmalonic acidemia with homocystinuria homocysteine plasma level
non-hodgkin lymphoma cleft lip/palate methylmalonic aciduria and homocystinuria age related macular degeneration
deep vein thrombosis homocystinuria patent ductus arteriosus central nervous system lymphoma
6 diseases from the University of Copenhagen DISEASES database for MTR:Multiple sclerosis Vitamin B12 deficiency Megaloblastic anemia Hyperhomocysteinemia
Homocystinuria Methylmalonic acidemia 10/52 Novoseek disease relationships for MTR gene (see all 52) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hyperhomocysteinemia |
82.9 |
10 |
11460881 (2), 8968737 (1), 12520968 (1), 12476935 (1) (see all 8) |
| homocystinuria |
82.3 |
9 |
9286442 (2), 15714522 (1), 9266389 (1), 9427140 (1) (see all 7) |
| anemia megaloblastic |
82 |
7 |
9453374 (2), 2407589 (1), 9427140 (1), 9501215 (1) (see all 6) |
| methylenetetrahydrofolate reductase deficiency |
81.4 |
2 |
9587031 (1), 12840086 (1) |
| subacute combined degeneration |
80.7 |
2 |
2407589 (1), 1678030 (1) |
| methylmalonic aciduria |
80.4 |
4 |
9266389 (1), 11237984 (1), 8979304 (1) |
| neural tube defects |
78.2 |
11 |
12812837 (1), 8968737 (1), 10323741 (1), 12520968 (1) (see all 10) |
| folate deficiency |
76 |
6 |
7901104 (1), 18815869 (1), 15496403 (1) |
| homocysteinemia |
72.8 |
2 |
11158293 (1), 12923861 (1) |
| vitamin b12 deficiency |
72.4 |
3 |
16054985 (1), 9453374 (1), 16464760 (1) |
Genatlas disease: MTR methylmalonic acidemia and homocystinuria,megaloblastic anemia with/without the cblG variant,characterized by neonatalseizures,severe developmental delay and hyperhomocysteinemia,cblG complementation groups no evidence of associationwith neural tube defects (NTD) in Netherlands and U.K.
GeneTests: MTR
Disorders of Intracellular Cobalamin Metabolism
Genetic Association Database (GAD): MTR
Human Genome Epidemiology (HuGE) Navigator: MTR (286 documents)
Export disorders for MTR gene to outside databases
|
Publications
for MTR gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for MTR gene, integrated from 9 sources (see all 598):
(articles sorted by number of sources associating them with MTR) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning, mapping and RNA analysis of the human methionine synthase gene. (PubMed id 8968735)1, 2, 3, 9 Li Y.N.... Kruger W.D. (1996)
- Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association. (PubMed id 15979034)1, 2, 4, 9 O'Leary V.B.... Brody L.C. (2005)
- Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study. (PubMed id 12482550)1, 4, 9 Jacques P.F....Rozen R. (2003)
- Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction. (PubMed id 11257268)1, 4, 9 Chen J....Hunter D.J. (2001)
- Defects in human methionine synthase in cblG patients. (PubMed id 8968736)1, 2, 9 Gulati S....Banerjee R. (1996)
- Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. (PubMed id 8968737)1, 2, 9 Leclerc D.... Gravel R.A. (1996)
- Polymorphisms in the reduced folate carrier, thymidylate synthase, or methionine synthase and risk of colon cancer. (PubMed id 16284371)1, 4, 9 Ulrich C.M....Slattery M.L. (2005)
- Methionine synthase genetic polymorphism MS A2756G alters susceptibility to follicular but not diffuse large B-cell non-Hodgkin's lymphoma or multiple myeloma. (PubMed id 12648076)1, 4, 9 Lincz L.F....Enno A. (2003)
- Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. (PubMed id 12923861)1, 4, 9 Bosco P....Gueant J.L. (2003)
- Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. (PubMed id 12649067)1, 4, 9 Zhu H....Finnell R.H. (2003)
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External Searches for MTR gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing MTR gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing MTR gene
(According to HUGE)
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Specialized Databases showing MTR gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for MTR | Pharmacogenomics, SNPs, Pathways | | Wikipedia | http://en.wikipedia.org/wiki/5-Methyltetrahydrofolate-homocysteine_methyltransferase |
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| Patent Information for MTR gene:
Search GeneIP for patents involving MTR
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MTR gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for MTR | | OriGene shRNA RFP for MTR | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MTR | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MTR | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MTR | | OriGene 3'-UTR Clone for MTR | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTR | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTR | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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