Hs02790577_cn

• Gene Symbol: UBA2
• Assay Reference Genome Location: Chr.19:34452042 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 Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UBA2	NM_005499.2	10	1003	NP_005490.1
	XM_005258404.3	11	1284	XP_005258461.2
	XM_006722962.2	9	894	XP_006723025.1
	XM_011526304.2	11	1284	XP_011524606.1
	XM_017026134.1	11	1284	XP_016881623.1
	AF079566.1	10	1023	AAD23914.1
	AF090384.1	10	969	AAD12784.1
	AF110957.1	10	933	AAD24434.1
	AK023120.1	10	1004
	AK024114.1	2	178
	AK124730.1	10	1144
	AK299514.1	7	787
	AK315521.1	10	980
	AL136905.1	10	958	CAB66839.1
	BC003153.1	10	981	AAH03153.1
	BT009781.1	10	933	AAP88783.1
	CR456756.1	10	933	CAG33037.1
	U35832.1	10	958	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, 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