|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
one-carbon metabolism
folate cycle
glycine biosynthesis
|
|
gptkbp:component
|
mitochondrial matrix
|
|
gptkbp:encodes
|
serine hydroxymethyltransferase, mitochondrial
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000114054
6472
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
liver
|
|
gptkbp:fullName
|
serine hydroxymethyltransferase 2
|
|
gptkbp:function
|
serine hydroxymethyltransferase activity
catalyzes conversion of serine and tetrahydrofolate to glycine and 5,10-methylenetetrahydrofolate
|
|
gptkbp:GOProcess
|
glycine biosynthetic process
|
|
gptkbp:HGNC_ID
|
10844
|
|
gptkbp:length
|
504 amino acids
|
|
gptkbp:locatedOnChromosome
|
12q13.3
|
|
gptkbp:location
|
mitochondrion
|
|
gptkbp:molecularWeight
|
56 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:neurological_disorder
gptkb:mitochondrial_disease
|
|
gptkbp:OMIM
|
138450
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Shmt2
|
|
gptkbp:orthologInYeast
|
SHM2
|
|
gptkbp:UniProtID
|
P34896
|
|
gptkbp:bfsParent
|
gptkb:serine_hydroxymethyltransferase
|
|
gptkbp:bfsLayer
|
8
|
|
http://www.w3.org/2000/01/rdf-schema#label
|
SHMT2
|