SHMT2 - serine hydroxymethyltransferase 2 Gene

Homo sapiens

Also known as GLYA; SHMT; mSHMT; NEDCASB; HEL-S-51e

Gene ID: 6472 | Gene type: protein coding

About SHMT2

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,229,711-57,234,935 (from NCBI)

This gene has 35 transcripts (splice variants), 245 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in liver (RPKM 35.4), lymph node (RPKM 21.8) and 25 other tissues.

Summary

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]

SHMT2 Products(5)

mRNA	Protein	Name
NM_001166356.2	NP_001159828.1	serine hydroxymethyltransferase, mitochondrial isoform 2 precursor
NM_001166357.1	NP_001159829.1	serine hydroxymethyltransferase, mitochondrial isoform 3
NM_001166358.2	NP_001159830.1	serine hydroxymethyltransferase, mitochondrial isoform 3
NM_001166359.1	NP_001159831.1	serine hydroxymethyltransferase, mitochondrial isoform 3
NM_005412.6	NP_005403.2	serine hydroxymethyltransferase, mitochondrial isoform 1 precursor

SHMT2 Protein Structure

SHMT

0
100
200
300
400
504 a.a.

Protein Preferred Names

Protein Names

serine hydroxymethyltransferase, mitochondrial

GLY A+

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities

NEDCASB

Campylobacteriosis

Campylobacter Infections	Campylobacter Infection
Enteric Campylobacteriosis

Serine Deficiency

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Spastic Paraparesis

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Polymicrogyria

Pmg

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-129226	SHMT-IN-2	Inhibitor	99.50%	Unkown
HY-134978	(Rac)-SHIN2	Inhibitor	99.40%	Unkown
HY-RS12877	SHMT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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