Hs02136717_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19037030 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	3613	NP_001167004.1
	NM_001173534.1	9	3604	NP_001167005.1
	NM_001184781.1	10	3727	NP_001171710.1
	NM_005137.2	10	3736	NP_005128.1
	NR_033674.1	9	3621
	BC040500.1	10	3731	AAH40500.1
	CR936871.1	11	4071	CAI59783.1
	D79985.1	10	3673	BAA11480.1
	L77560.1	10	3637
	X83545.1	10	3637	CAA58536.1
	X84076.1	10	3634	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	DGCR11 TSSK2 GSC2 DGCR10 DGCR14 DGCR5 LINC01311 DGCR9 CLTCL1 SLC25A1 DGCR2
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	LOC729461 DGCR10 LOC642643 DGCR5 USP18 GGT3P DGCR6 LOC102725072 LOC100996432 RIMBP3 TMEM191B DGCR11 PI4KAP1 FAM230A LOC100996415 DGCR9 LOC100996401 DGCR2 PRODH
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	DGCR11 DGCR10 DGCR5 DGCR6 LOC100996432 DGCR9 DGCR2 PRODH
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	LOC729461 DGCR10 LOC642643 DGCR5 USP18 GGT3P DGCR6 LOC102725072 LOC100996432 RIMBP3 TMEM191B PI4KAP1 FAM230A LOC100996415 DGCR9 LOC100996401 DGCR2 PRODH
dgv543n27	Chr.22:18890274 - 19046019 on Build GRCh38	Gain	DGCR10 DGCR5 DGCR6 LOC100996432 DGCR9 DGCR2 PRODH
dgv4469n100	Chr.22:18760915 - 19037281 on Build GRCh38	Gain	DGCR10 DGCR5 GGT3P DGCR6 LOC102725072 LOC100996432 DGCR9 DGCR2 PRODH
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR11 DGCR5 DGCR2
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR11 DGCR10 DGCR5 DGCR6 DGCR9 DGCR2 PRODH
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	DGCR11 DGCR10 DGCR5 DGCR6 LOC102725072 LOC100996432 DGCR9 DGCR2 PRODH
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	DGCR10 DGCR5 DGCR6 LOC100996432 DGCR9 DGCR2 PRODH
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	LOC729461 DGCR10 LOC642643 DGCR5 USP18 GGT3P DGCR6 LOC102725072 LOC100996432 RIMBP3 TMEM191B PI4KAP1 FAM230A LOC100996415 DGCR9 LOC100996401 DGCR2 PRODH
dgv1284e212	Chr.22:18929315 - 19037146 on Build GRCh38	Gain	DGCR10 DGCR5 DGCR9 DGCR2 PRODH
dgv1285e212	Chr.22:18929330 - 19037146 on Build GRCh38	Loss	DGCR10 DGCR5 DGCR9 DGCR2 PRODH
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	LOC729461 DGCR10 LOC642643 DGCR5 USP18 GGT3P DGCR6 LOC102725072 LOC100996432 RIMBP3 TMEM191B TUBA8 DGCR11 PI4KAP1 FAM230A LOC100996415 DGCR9 LOC100996401 PEX26 DGCR2 PRODH
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	DGCR10 LOC642643 C22orf39 DGCR5 DGCR6 GNB1L LOC102725072 RIMBP3 TMEM191B TXNRD2 SEPT5-GP1BB LINC00895 COMT DGCR11 GSC2 MRPL40 PI4KAP1 CDC45 HIRA SLC25A1 LOC100996401 TSSK2 MIR4761 LOC729461 USP18 GGT3P LINC01311 C22orf29 LOC100996432 CLTCL1 SEPT5 TBX1 CLDN5 DGCR14 FAM230A LOC100996415 DGCR9 UFD1L GP1BB DGCR2 PRODH

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