Hs02368934_cn

• Gene Symbol: SHMT2
• Assay Reference Genome Location: Chr.12:57233772 on build GRCh38
• Cytoband: 12q13.3

Target Gene Details

• Entrez Gene ID: 6472
• Gene Name: serine hydroxymethyltransferase 2
• Gene Aliases: GLYA, HEL-S-51e, SHMT
• Location: Chr.12:57229573-57234935 on Build GRCh38
• Assay Gene Location: Overlaps Intron 11 - Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SHMT2	NM_001166356.1			NP_001159828.1
	NM_001166357.1			NP_001159829.1
	NM_001166358.1			NP_001159830.1
	NM_001166359.1			NP_001159831.1
	NM_005412.5			NP_005403.2
	NR_029415.1
	NR_029416.1
	NR_029417.1
	NR_048562.1
	XM_011538675.2			XP_011536977.1
	XM_011538676.2			XP_011536978.1
	XM_011538677.2			XP_011536979.1
	XM_011538678.2			XP_011536980.1
	AK055053.1
	AK223555.1			BAD97275.1
	AK295941.1
	AK296183.1
	AK297173.1
	AK298231.1
	AK301339.1
	AK301443.1
	AK303827.1
	AK315916.1
	BC011911.2			AAH11911.1
	BC013677.2			AAH13677.1
	BC032584.1			AAH32584.1
	BC044211.1			AAH44211.1
	BC091501.1			AAH91501.1
	BT006866.1			AAP35512.1
	BX647711.1			CAI46021.1
	BX648847.1
	EU668344.1
	KU178333.1
	KU178334.1
	L11932.1			AAA63258.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv482992	Chr.12:56206217 - 57706217 on Build GRCh38	Gain+Loss	RDH16 PIP4K2C MYO1A MIR1228 NACA NABP2 LRP1 ARHGEF25 STAT2 SPRYD4 R3HDM2 INHBC MIP SHMT2 CNPY2 SLC39A5 DDIT3 MIR6758 NDUFA4L2 PAN2 HBCBP ZBTB39 MARS DTX3 SNORD59B RNF41 PTGES3 GPR182 GLI1 GLS2 STAT6 OS9 SDR9C7 TIMELESS PRIM1 NAB2 SNORA105C LRP1-AS STAC3 B4GALNT1 ATP5B ANKRD52 RBMS2 NXPH4 SLC26A10 ARHGAP9 APOF NEMP1 MIR616 TAC3 MBD6 BAZ2A COQ10A INHBE DCTN2 CS LOC101927583 SNORD59A KIF5A IL23A HSD17B6
nsv519293	Chr.12:57189889 - 57243810 on Build GRCh38	Loss	MIR1228 SHMT2 STAC3 NXPH4 NDUFA4L2 LRP1
nsv952189	Chr.12:57127118 - 57245617 on Build GRCh38	Deletion	MIR1228 SHMT2 LRP1-AS STAC3 NXPH4 NDUFA4L2 LRP1
dgv96n21	Chr.12:57139199 - 57243810 on Build GRCh38	Loss	MIR1228 SHMT2 LRP1-AS STAC3 NXPH4 NDUFA4L2 LRP1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

methyltransferase

Gene Ontology Categories:

Process(es)

glycine metabolic process
L-serine metabolic process
L-serine biosynthetic process
one-carbon metabolic process
positive regulation of cell proliferation
glycine biosynthetic process from serine
response to type I interferon
tetrahydrofolate interconversion
tetrahydrofolate metabolic process
folic acid metabolic process
protein tetramerization
protein homotetramerization
protein K63-linked deubiquitination

Function(s)

chromatin binding
glycine hydroxymethyltransferase activity
protein binding
L-allo-threonine aldolase activity
amino acid binding
pyridoxal phosphate binding
identical protein binding