serine hydroxymethyltransferase 2

Summary
Gene Symbol
  • SHMT2
Aliases
  • mSHMT
  • mitochondrial serine hydroxymethyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
6472
HGNC
10852
KEGG Gene ID
hsa:6472
PubChem
6472
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cardiomyopathy
  • Cytoplasm
  • Disease variant
  • Intellectual disability
  • Methyltransferase
  • Mitochondrion inner membrane
  • Mitochondrion nucleoid
  • Nucleus
  • One-carbon metabolism
  • Phosphoprotein
  • Pyridoxal phosphate
  • Reference proteome
  • Transferase
  • Transit peptide
Proteins
Displaying all 6 entries
UniProt Protein Name
V9HW06
B4DLV4
Q5BJF5
Q5HYG8
P34897
  • Glycine hydroxymethyltransferase
  • Serine methylase
B4DJQ3
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000182199

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying entries 41 - 50 of 57 in total
DO ID Disease Name Source
DOID:4928 intrahepatic cholangiocarcinoma
DOID:4947 cholangiocarcinoma
DOID:5041 esophageal cancer
DOID:5076 mixed glioma
DOID:5419 schizophrenia
DOID:5517 stomach carcinoma
DOID:5520 head and neck squamous cell carcinoma
DOID:5672 large intestine cancer
DOID:684 hepatocellular carcinoma
DOID:686 liver carcinoma
The Human Phenotype Ontology
Displaying entries 31 - 39 of 39 in total
HPO ID HPO Term
HP:0003577 Congenital onset
HP:0003623 Neonatal onset
HP:0004691 2-3 toe syndactyly
HP:0007018 Attention deficit hyperactivity disorder
HP:0009623 Proximal placement of thumb
HP:0009943 Complete duplication of thumb phalanx
HP:0010864 Intellectual disability, severe
HP:0012407 Scissor gait
HP:0012650 Perisylvian polymicrogyria
Displaying 1 entry
Disease ID Disease Name
OMIM:619121
  • neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024