Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: SHMT2 (serine hydroxymethyltransferase 2) Homo sapiens
Symbol: SHMT2
Name: serine hydroxymethyltransferase 2
Description: 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 glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: epididymis secretory sperm binding protein Li 51e; GLY A+; GLYA; glycine auxotroph A, human complement for hamster; glycine hydroxymethyltransferase; HEL-S-51e; serine aldolase; serine hydroxymethylase; serine hydroxymethyltransferase 2 (mitochondrial); serine hydroxymethyltransferase, mitochondrial; serine methylase; SHMT; threonine aldolase
Mus musculus (house mouse) : Shmt2 (serine hydroxymethyltransferase 2 (mitochondrial))  MGI  Alliance
Rattus norvegicus (Norway rat) : Shmt2 (serine hydroxymethyltransferase 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Shmt2 (serine hydroxymethyltransferase 2)
Pan paniscus (bonobo/pygmy chimpanzee) : SHMT2 (serine hydroxymethyltransferase 2)
Canis lupus familiaris (dog) : SHMT2 (serine hydroxymethyltransferase 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Shmt2 (serine hydroxymethyltransferase 2)
Sus scrofa (pig) : SHMT2 (serine hydroxymethyltransferase 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381257,229,685 - 57,234,935 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371257,623,356 - 57,628,718 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361255,909,819 - 55,914,981 (+)NCBINCBI36hg18NCBI36
Build 341255,909,818 - 55,914,981NCBI
Celera1257,277,587 - 57,282,945 (+)NCBI
Cytogenetic Map12q13.3NCBI
HuRef1254,662,237 - 54,667,595 (+)NCBIHuRef
CHM1_11257,591,454 - 57,596,816 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on SHMT2
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1318437
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.