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 11 - 20 of 57 in total
DO ID Disease Name Source
DOID:1107 esophageal carcinoma
DOID:12849 autistic disorder
DOID:1324 lung cancer
DOID:1325 bronchus cancer
DOID:14250 Down syndrome
DOID:14330 Parkinson's disease
DOID:1520 colon carcinoma
DOID:1574 alcohol use disorder
DOID:1612 breast cancer
DOID:162 cancer
The Human Phenotype Ontology
Displaying entries 1 - 10 of 39 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000193 Bifid uvula
HP:0000219 Thin upper lip vermilion
HP:0000252 Microcephaly
HP:0000322 Short philtrum
HP:0000343 Long philtrum
HP:0000486 Strabismus
HP:0000514 Slow saccadic eye movements
HP:0000718 Aggressive behavior
HP:0000733 Motor stereotypy
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