Hs00781000_cn

• Gene Symbol: SHMT2
• Assay Reference Genome Location: Chr.12:57234282 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 13 - Exon 14

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	6	2968
	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	PIP4K2C NEMP1 KIF5A CS NXPH4 HSD17B6 BAZ2A HBCBP ARHGAP9 INHBC LRP1-AS MIP NABP2 SHMT2 NACA ANKRD52 SLC26A10 CNPY2 SLC39A5 GLS2 COQ10A GPR182 SNORA105C STAC3 TAC3 DCTN2 MARS MBD6 RDH16 PTGES3 RNF41 MIR1228 R3HDM2 RBMS2 SNORD59B PAN2 GLI1 DDIT3 OS9 MIR616 SPRYD4 ARHGEF25 LRP1 IL23A STAT6 TIMELESS SNORD59A SDR9C7 NAB2 DTX3 B4GALNT1 MIR6758 APOF LOC101927583 MYO1A INHBE ZBTB39 NDUFA4L2 ATP5B PRIM1 STAT2
nsv519293	Chr.12:57189889 - 57243810 on Build GRCh38	Loss	NXPH4 STAC3 LRP1 MIR1228 NDUFA4L2 SHMT2
nsv952189	Chr.12:57127118 - 57245617 on Build GRCh38	Deletion	NXPH4 STAC3 LRP1 MIR1228 LRP1-AS NDUFA4L2 SHMT2
dgv96n21	Chr.12:57139199 - 57243810 on Build GRCh38	Loss	NXPH4 STAC3 LRP1 MIR1228 LRP1-AS NDUFA4L2 SHMT2

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