Hs07152395_cn

• Gene Symbol: UBA2
• Assay Reference Genome Location: Chr.19:34447509 on build GRCh38
• Cytoband: 19q13.11

Target Gene Details

• Entrez Gene ID: 10054
• Gene Name: ubiquitin like modifier activating enzyme 2
• Gene Aliases: ARX, HRIHFB2115, SAE2
• Location: Chr.19:34428176-34469893 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UBA2	NM_005499.2			NP_005490.1
	XM_005258404.3			XP_005258461.2
	XM_006722962.2			XP_006723025.1
	XM_011526304.2			XP_011524606.1
	XM_017026134.1			XP_016881623.1
	AF079566.1			AAD23914.1
	AF090384.1			AAD12784.1
	AF110957.1			AAD24434.1
	AK023120.1
	AK124730.1
	AK299514.1
	AK315521.1
	AL136905.1			CAB66839.1
	BC003153.1			AAH03153.1
	BT009781.1			AAP88783.1
	CR456756.1			CAG33037.1
	U35832.1			AAC99992.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv2469	Chr.19:34442956 - 34476603 on Build GRCh38	Insertion	UBA2
nsv1059395	Chr.19:34430094 - 34499592 on Build GRCh38	Gain	WTIP UBA2

More Information

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

Panther Classification:

Molecular Function -

ubiquitin-protein ligase

Gene Ontology Categories:

Process(es)

protein sumoylation
positive regulation of catalytic activity

Function(s)

protein binding
ATP binding
enzyme activator activity
transcription factor binding
SUMO activating enzyme activity
metal ion binding
protein heterodimerization activity