Hs03813621_cn

• Gene Symbol: ANKLE2
• Assay Reference Genome Location: Chr.12:132749639 on build GRCh38
• Cytoband: 12q24.33

Target Gene Details

• Entrez Gene ID: 23141
• Gene Name: ankyrin repeat and LEM domain containing 2
• Gene Aliases: KIAA0692, LEMD7, Lem4, MCPH16
• Location: Chr.12:132725667-132761888 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ANKLE2	NM_015114.2			NP_055929.1
	XM_005266159.3			XP_005266216.1
	XM_005266160.1			XP_005266217.1
	XM_006719735.1			XP_006719798.1
	XM_011534787.2			XP_011533089.1
	XM_011534788.1			XP_011533090.1
	XM_017019076.1			XP_016874565.1
	AB014592.1			BAA31667.1
	BC001530.2			AAH01530.2
	BC025347.1			AAH25347.1
	BC043157.1			AAH43157.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3631312	Chr.12:132735138 - 132794488 on Build GRCh38	Loss	GOLGA3 ANKLE2
nsv561129	Chr.12:132736267 - 132769626 on Build GRCh38	Loss	GOLGA3 ANKLE2
esv3631313	Chr.12:132742571 - 132754625 on Build GRCh38	Loss	ANKLE2
nsv1047500	Chr.12:132666737 - 132763400 on Build GRCh38	Gain	PXMP2 ANKLE2 PGAM5 POLE
nsv1037074	Chr.12:132613063 - 132801953 on Build GRCh38	Gain	P2RX2 GOLGA3 PXMP2 ANKLE2 PGAM5 POLE

More Information

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

Gene Ontology Categories:

Process(es)

mitotic nuclear division
mitotic nuclear envelope reassembly
central nervous system development
regulation of protein phosphatase type 2A activity
positive regulation of protein dephosphorylation
negative regulation of phosphorylation
negative regulation of apoptotic process
regulation of catalytic activity
cell division

Function(s)

protein binding
protein phosphatase type 2A regulator activity
protein phosphatase 2A binding