Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4552
Gene name Gene Name - the full gene name approved by the HGNC.
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MTRR
Synonyms (NCBI Gene) Gene synonyms aliases
MSR, cblE
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p15.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires me
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137853061 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs137853062 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs142714881 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, non coding transcript variant
rs147277149 C>T Pathogenic Coding sequence variant, stop gained, non coding transcript variant
rs148909799 A>G Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001613 hsa-let-7b-5p pSILAC 18668040
MIRT031186 hsa-miR-19b-3p Sequencing 20371350
MIRT001613 hsa-let-7b-5p Proteomics;Other 18668040
MIRT1165395 hsa-miR-2110 CLIP-seq
MIRT1165396 hsa-miR-3150a-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000096 Process Sulfur amino acid metabolic process TAS
GO:0003958 Function NADPH-hemoprotein reductase activity IDA 11466310
GO:0005515 Function Protein binding IPI 17288554, 25416956, 27771510
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602568 7473 ENSG00000124275
Protein
UniProt ID Q9UBK8
Protein name Methionine synthase reductase (MSR) (EC 1.16.1.8) (Aquacobalamin reductase) (AqCbl reductase)
Protein function Key enzyme in methionine and folate homeostasis responsible for the reactivation of methionine synthase (MTR/MS) activity by catalyzing the reductive methylation of MTR-bound cob(II)alamin (PubMed:17892308). Cobalamin (vitamin B12) forms a compl
PDB 2QTL , 2QTZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00258 Flavodoxin_1 6 142 Flavodoxin Domain
PF00667 FAD_binding_1 267 492 FAD binding domain Domain
PF00175 NAD_binding_1 542 662 Oxidoreductase NAD-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Found in all tissues tested, particularly abundant in skeletal muscle.
Sequence
Sequence length 698
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cobalamin transport and metabolism   Methylation
Sulfur amino acid metabolism
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Anemia, Megaloblastic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
16985020, 17389618
Colorectal neoplasms Colorectal Neoplasms rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049
View all (1682 more)
16985020, 17389618
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Associations from Text Mining
Disease Name Relationship Type References
Abruptio Placentae Associate 17376725
Adenoma Associate 16985020, 31740010
Adrenoleukodystrophy Associate 19353223
Anemia Macrocytic Associate 25526710
Anemia Megaloblastic Associate 9501215
Aortic Aneurysm Abdominal Associate 20871623
Aortic Dissection Associate 20871623
Autistic Disorder Associate 22057956
Azoospermia Nonobstructive Associate 31377750
Beckwith Wiedemann Syndrome Associate 30165906