Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6472
Gene name Gene Name - the full gene name approved by the HGNC.
Serine hydroxymethyltransferase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SHMT2
Synonyms (NCBI Gene) Gene synonyms aliases
GLYA, HEL-S-51e, NEDCASB, SHMT, mSHMT
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDCASB
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glyci
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006985 hsa-miR-193b-3p Luciferase reporter assay 21512034
MIRT006985 hsa-miR-193b-3p Luciferase reporter assay 21512034
MIRT006985 hsa-miR-193b-3p Reporter assay;Proteomics 21512034
MIRT006985 hsa-miR-193b-3p Microarray 20304954
MIRT022109 hsa-miR-125b-5p Other 20194440
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000900 Function Translation repressor activity, mRNA regulatory element binding IBA 21873635
GO:0002082 Process Regulation of oxidative phosphorylation IBA 21873635
GO:0002082 Process Regulation of oxidative phosphorylation IMP 29364879, 29452640
GO:0003682 Function Chromatin binding IDA 18063578
GO:0004372 Function Glycine hydroxymethyltransferase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138450 10852 ENSG00000182199
Protein
UniProt ID P34897
Protein name Serine hydroxymethyltransferase, mitochondrial (SHMT) (EC 2.1.2.1) (Glycine hydroxymethyltransferase) (Serine methylase)
Protein function Catalyzes the cleavage of serine to glycine accompanied with the production of 5,10-methylenetetrahydrofolate, an essential intermediate for purine biosynthesis (PubMed:24075985, PubMed:25619277, PubMed:29364879, PubMed:33015733). Serine provide
PDB 4PVF , 5V7I , 5X3V , 6DK3 , 6H3C , 6M5O , 6QVG , 6QVL , 6R8F , 7BYI , 8AQL , 8FJT , 8FJU , 8GKS , 8GKT , 8GKU , 8GKW , 8GKY , 8GKZ , 8QI7 , 8SSJ , 8T4O , 8T4P , 8TLC , 9BOX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00464 SHMT 49 448 Serine hydroxymethyltransferase Domain
Sequence
Sequence length 504
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycine, serine and threonine metabolism
Glyoxylate and dicarboxylate metabolism
One carbon pool by folate
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
Biosynthesis of cofactors
Antifolate resistance
Folate transport and metabolism
  Metabolism of folate and pterines
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Lung carcinoma Non-Small Cell Lung Carcinoma rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355
View all (44 more)
26482881
Unknown
Disease term Disease name Evidence References Source
Myopathy neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities GenCC
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33928169, 40432803
Breast Neoplasms Associate 27666119, 29020998, 31894856
Carcinogenesis Associate 34166228, 35018218, 35114976, 35798250, 37328520, 38188143
Carcinoma Hepatocellular Associate 26662310, 31379360
Carcinoma Non Small Cell Lung Associate 36615660
Carcinoma Renal Cell Associate 35798250
Carcinoma Renal Cell Stimulate 36806313
Carcinoma Renal Cell Inhibit 37796681
Cholangiocarcinoma Associate 40432803
Colorectal Neoplasms Associate 31773687, 35114976, 35211429, 40432803