SHMT2 (serine hydroxymethyltransferase 2)

2015-10-01  

Identity

HGNC
LOCATION
12q13.3
LOCUSID
ALIAS
GLYA,HEL-S-51e,NEDCASB,SHMT
FUSION GENES

Other Information

Locus ID:

NCBI: 6472
MIM: 138450
HGNC: 10852
Ensembl: ENSG00000182199

Variants:

dbSNP: 6472
ClinVar: 6472
TCGA: ENSG00000182199
COSMIC: SHMT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182199ENST00000328923P34897
ENSG00000182199ENST00000328923V9HW06
ENSG00000182199ENST00000414700P34897
ENSG00000182199ENST00000414700A0A024RB99
ENSG00000182199ENST00000449049P34897
ENSG00000182199ENST00000449049A0A024RB99
ENSG00000182199ENST00000553474P34897
ENSG00000182199ENST00000553474A0A024RB99
ENSG00000182199ENST00000553529G3V3Y8
ENSG00000182199ENST00000553837G3V540
ENSG00000182199ENST00000554310G3V2W0
ENSG00000182199ENST00000554604G3V540
ENSG00000182199ENST00000554975G3V5L0
ENSG00000182199ENST00000555116G3V2Y1
ENSG00000182199ENST00000555563G3V3C6
ENSG00000182199ENST00000555634G3V2Y4
ENSG00000182199ENST00000555773G3V4T0
ENSG00000182199ENST00000555774G3V2Y1
ENSG00000182199ENST00000556689G3V4W5
ENSG00000182199ENST00000556737G3V3Y8
ENSG00000182199ENST00000556825G3V3C6
ENSG00000182199ENST00000557269G3V2D2
ENSG00000182199ENST00000557348G3V2Y1
ENSG00000182199ENST00000557427G3V4X0
ENSG00000182199ENST00000557433G3V2E4
ENSG00000182199ENST00000557487P34897
ENSG00000182199ENST00000557529H0YIZ0
ENSG00000182199ENST00000557703G3V241

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Glyoxylate and dicarboxylate metabolismKEGGko00630
One carbon pool by folateKEGGko00670
Glycine, serine and threonine metabolismKEGGhsa00260
Glyoxylate and dicarboxylate metabolismKEGGhsa00630
One carbon pool by folateKEGGhsa00670
Metabolic pathwaysKEGGhsa01100
C1-unit interconversion, eukaryotesKEGGhsa_M00141
C1-unit interconversion, eukaryotesKEGGM00141
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Metabolism of folate and pterinesREACTOMER-HSA-196757
Antifolate resistanceKEGGko01523
Antifolate resistanceKEGGhsa01523

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
258552942015SHMT2 drives glioma cell survival in ischaemia but imposes a dependence on glycine clearance.104
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
195131162009SHMT1 and SHMT2 are functionally redundant in nuclear de novo thymidylate biosynthesis.60
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
269750212016Metabolic phenotype of bladder cancer.34
186361242008Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.32
290730642017Human SHMT inhibitors reveal defective glycine import as a targetable metabolic vulnerability of diffuse large B-cell lymphoma.32
113868522001Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects?29
95733901998Molecular cloning, characterization and alternative splicing of the human cytoplasmic serine hydroxymethyltransferase gene.22
291804692018SHMT2 Desuccinylation by SIRT5 Drives Cancer Cell Proliferation.22

Citation

Dessen P

SHMT2 (serine hydroxymethyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/55419/shmt2