SHMT2 - serine hydroxymethyltransferase 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6472

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

SHMT: Serine hydroxymethyltransferase (49 - 448)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 504 a.a.
Protein Preferred Names Protein Names

serine hydroxymethyltransferase, mitochondrial

  • GLY A+

SHMT2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
SHMT2 P34897 CMTM5 Homo sapiens Q96DZ9-2
Y2H Array
26871637
Intra
SHMT2 P34897 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
26871637
Intra
SHMT2 P34897 CMTM5 Homo sapiens Q96DZ9-2
Y2H Prey Pooling
26871637
Intra
SHMT2 P34897 CMTM5 Homo sapiens Q96DZ9
Validated Y2H
25416956
Intra
SHMT2 P34897 CAB39 Homo sapiens Q9Y376
Validated Y2H
32296183
Intra
SHMT2 P34897 CAB39 Homo sapiens Q9Y376
Y2H Array
32296183
Intra
SHMT2 P34897 CAB39 Homo sapiens Q9Y376
Y2H Prey Pooling
32296183
Intra
SHMT2 P34897 ARL6IP1 Homo sapiens Q15041
Y2H Array
26871637
Intra
SHMT2 P34897 ARL6IP1 Homo sapiens Q15041
Y2H Array
25416956
Intra
SHMT2 P34897 ARL6IP1 Homo sapiens Q15041
Validated Y2H
25416956
Intra
SHMT2 P34897 ARL6IP1 Homo sapiens Q15041
Validated Y2H
26871637
Intra
SHMT2 P34897 BRCC3 Homo sapiens P46736
Anti Tag CoIP
33961781
Intra
SHMT2 P34897 ARL6IP1 Homo sapiens Q15041
Y2H Prey Pooling
26871637
Intra
SHMT2 P34897 BABAM2 Homo sapiens Q9NXR7
Anti Tag CoIP
33961781
Intra
SHMT2 P34897 BRCC3 Homo sapiens P46736
Lumier
37398436
Intra
SHMT2 P34897 MAL2 Homo sapiens Q969L2
Y2H Prey Pooling
26871637
Intra
SHMT2 P34897 MAL2 Homo sapiens Q969L2
Validated Y2H
26871637
Intra
SHMT2 P34897 MAL2 Homo sapiens Q969L2
Y2H Array
26871637
Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-182019 HDAC11-IN-5 Activator 98.25% Unkown
HY-177092 AGF347 Inhibitor / Unkown