Hs00527791_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19036921 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	3722	NP_001167004.1
	NM_001173534.1	9	3713	NP_001167005.1
	NM_001184781.1	10	3836	NP_001171710.1
	NM_005137.2	10	3845	NP_005128.1
	NR_033674.1	9	3730
	BC040500.1	10	3840	AAH40500.1
	CR936871.1	11	4180	CAI59783.1
	D79985.1	10	3782	BAA11480.1
	L77560.1	10	3746
	X83545.1	10	3746	CAA58536.1
	X84076.1	10	3743	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	SLC25A1 DGCR9 GSC2 DGCR14 DGCR11 DGCR5 LINC01311 CLTCL1 TSSK2 DGCR2 DGCR10
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	LOC642643 USP18 DGCR9 PI4KAP1 LOC100996415 TMEM191B RIMBP3 DGCR2 DGCR10 GGT3P LOC729461 DGCR11 DGCR6 DGCR5 LOC102725072 LOC100996401 LOC100996432 FAM230A PRODH
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	DGCR9 DGCR11 DGCR6 DGCR5 DGCR2 LOC100996432 DGCR10 PRODH
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	LOC642643 USP18 DGCR9 PI4KAP1 LOC100996415 TMEM191B RIMBP3 DGCR2 DGCR10 GGT3P LOC729461 DGCR6 DGCR5 LOC102725072 LOC100996401 LOC100996432 FAM230A PRODH
dgv543n27	Chr.22:18890274 - 19046019 on Build GRCh38	Gain	DGCR9 DGCR6 DGCR5 DGCR2 LOC100996432 DGCR10 PRODH
dgv4469n100	Chr.22:18760915 - 19037281 on Build GRCh38	Gain	GGT3P DGCR9 DGCR6 DGCR5 LOC102725072 DGCR2 LOC100996432 DGCR10 PRODH
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR11 DGCR5 DGCR2
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR9 DGCR11 DGCR6 DGCR5 DGCR2 DGCR10 PRODH
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	DGCR9 DGCR11 DGCR6 DGCR5 LOC102725072 DGCR2 LOC100996432 DGCR10 PRODH
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	DGCR9 DGCR6 DGCR5 DGCR2 LOC100996432 DGCR10 PRODH
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	LOC642643 USP18 DGCR9 PI4KAP1 LOC100996415 TMEM191B RIMBP3 DGCR2 DGCR10 GGT3P LOC729461 DGCR6 DGCR5 LOC102725072 LOC100996401 LOC100996432 FAM230A PRODH
dgv1284e212	Chr.22:18929315 - 19037146 on Build GRCh38	Gain	DGCR9 DGCR5 DGCR2 DGCR10 PRODH
dgv1285e212	Chr.22:18929330 - 19037146 on Build GRCh38	Loss	DGCR9 DGCR5 DGCR2 DGCR10 PRODH
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	LOC642643 USP18 TUBA8 DGCR9 PI4KAP1 LOC100996415 TMEM191B RIMBP3 DGCR2 DGCR10 GGT3P LOC729461 DGCR11 DGCR6 DGCR5 LOC102725072 LOC100996401 PEX26 LOC100996432 FAM230A PRODH
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	SLC25A1 PI4KAP1 HIRA TMEM191B RIMBP3 TSSK2 LINC00895 DGCR10 GGT3P LOC729461 C22orf29 DGCR14 GNB1L DGCR11 DGCR6 SEPT5-GP1BB LINC01311 LOC102725072 MRPL40 FAM230A PRODH LOC642643 USP18 SEPT5 DGCR9 GSC2 LOC100996415 CLDN5 TBX1 CDC45 DGCR2 UFD1L TXNRD2 GP1BB DGCR5 C22orf39 MIR4761 CLTCL1 LOC100996401 LOC100996432 COMT

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