Hs00947649_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19037570 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 9993
• Gene Name: DiGeorge syndrome critical region gene 2
• Gene Aliases: DGS-C, IDD, LAN, SEZ-12
• Location: Chr.22:19036282-19122454 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DGCR2	NM_001173533.1	9	3073	NP_001167004.1
	NM_001173534.1	9	3064	NP_001167005.1
	NM_001184781.1	10	3187	NP_001171710.1
	NM_005137.2	10	3196	NP_005128.1
	NR_033674.1	9	3081
	BC040500.1	10	3191	AAH40500.1
	CR936871.1	11	3531	CAI59783.1
	D79985.1	10	3133	BAA11480.1
	L77560.1	10	3097
	X83545.1	10	3097	CAA58536.1
	X84076.1	10	3094	CAA58883.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv588213	Chr.22:18971102 - 19298293 on Build GRCh38	Gain	DGCR5 DGCR2 DGCR14 SLC25A1 DGCR11 LINC01311 DGCR10 GSC2 CLTCL1 TSSK2 DGCR9
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	DGCR5 DGCR2 DGCR11 DGCR10 DGCR6 PRODH LOC102725072 LOC100996432 DGCR9
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	DGCR2 LOC729461 DGCR11 FAM230A DGCR10 LOC100996432 PI4KAP1 DGCR9 DGCR5 RIMBP3 GGT3P LOC100996401 LOC100996415 USP18 LOC642643 DGCR6 TMEM191B PRODH LOC102725072
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	DGCR5 DGCR2 DGCR10 DGCR6 PRODH LOC100996432 DGCR9
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	DGCR2 LOC729461 FAM230A DGCR10 LOC100996432 PI4KAP1 DGCR9 DGCR5 RIMBP3 GGT3P LOC100996401 LOC100996415 USP18 LOC642643 DGCR6 TMEM191B PRODH LOC102725072
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	DGCR5 DGCR2 DGCR11 DGCR10 DGCR6 PRODH LOC100996432 DGCR9
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	DGCR2 LOC729461 FAM230A DGCR10 LOC100996432 PI4KAP1 DGCR9 DGCR5 RIMBP3 GGT3P LOC100996401 LOC100996415 USP18 LOC642643 DGCR6 TMEM191B PRODH LOC102725072
dgv543n27	Chr.22:18890274 - 19046019 on Build GRCh38	Gain	DGCR5 DGCR2 DGCR10 DGCR6 PRODH LOC100996432 DGCR9
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	DGCR2 LOC729461 TUBA8 DGCR11 FAM230A DGCR10 PEX26 LOC100996432 PI4KAP1 DGCR9 DGCR5 RIMBP3 GGT3P LOC100996401 LOC100996415 USP18 LOC642643 DGCR6 TMEM191B PRODH LOC102725072
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	DGCR2 LOC729461 HIRA GNB1L DGCR11 TXNRD2 FAM230A DGCR10 GP1BB GSC2 CLTCL1 CLDN5 UFD1L PI4KAP1 DGCR9 DGCR5 LOC100996415 LINC01311 LOC642643 C22orf29 PRODH LOC102725072 SEPT5 TBX1 LOC100996432 LINC00895 C22orf39 SEPT5-GP1BB RIMBP3 GGT3P LOC100996401 DGCR14 SLC25A1 USP18 MIR4761 MRPL40 DGCR6 TMEM191B COMT TSSK2 CDC45
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR5 DGCR2 DGCR11
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR5 DGCR2 DGCR11 DGCR10 DGCR6 PRODH DGCR9

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

apolipoprotein

Gene Ontology Categories:

Process(es)

cell adhesion
organ morphogenesis
cognition

Function(s)

carbohydrate binding