Hs02496732_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19037738 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	2905	NP_001167004.1
	NM_001173534.1	9	2896	NP_001167005.1
	NM_001184781.1	10	3019	NP_001171710.1
	NM_005137.2	10	3028	NP_005128.1
	NR_033674.1	9	2913
	BC040500.1	10	3023	AAH40500.1
	CR936871.1	11	3363	CAI59783.1
	D79985.1	10	2965	BAA11480.1
	L77560.1	10	2929
	X83545.1	10	2929	CAA58536.1
	X84076.1	10	2926	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 DGCR14 DGCR11 GSC2 LINC01311 TSSK2 DGCR2 DGCR9 DGCR10 CLTCL1 SLC25A1
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	LOC100996432 DGCR5 DGCR11 DGCR6 DGCR2 LOC102725072 PRODH DGCR9 DGCR10
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	LOC100996432 DGCR5 DGCR11 LOC100996415 TMEM191B USP18 LOC100996401 LOC642643 GGT3P PRODH DGCR9 FAM230A DGCR6 PI4KAP1 DGCR2 LOC102725072 LOC729461 RIMBP3 DGCR10
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	LOC100996432 DGCR5 DGCR6 DGCR2 PRODH DGCR9 DGCR10
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	LOC100996432 DGCR5 LOC100996415 TMEM191B USP18 LOC100996401 LOC642643 GGT3P PRODH DGCR9 FAM230A DGCR6 PI4KAP1 DGCR2 LOC102725072 LOC729461 RIMBP3 DGCR10
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	LOC100996432 DGCR5 DGCR11 DGCR6 DGCR2 PRODH DGCR9 DGCR10
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	LOC100996432 DGCR5 LOC100996415 TMEM191B USP18 LOC100996401 LOC642643 GGT3P PRODH DGCR9 FAM230A DGCR6 PI4KAP1 DGCR2 LOC102725072 LOC729461 RIMBP3 DGCR10
dgv7973n54	Chr.22:18890274 - 19111906 on Build GRCh38	Gain	LOC100996432 DGCR5 DGCR11 DGCR6 DGCR2 PRODH DGCR9 DGCR10
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	LOC100996432 DGCR5 DGCR11 LOC100996415 TMEM191B USP18 LOC100996401 LOC642643 GGT3P PRODH DGCR9 FAM230A DGCR6 PI4KAP1 DGCR2 PEX26 LOC102725072 LOC729461 TUBA8 RIMBP3 DGCR10
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LOC100996432 SEPT5-GP1BB TSSK2 LOC100996401 LOC642643 GGT3P LINC00895 FAM230A SEPT5 COMT DGCR14 DGCR6 GSC2 MIR4761 PI4KAP1 DGCR2 TBX1 LOC102725072 MRPL40 DGCR10 SLC25A1 DGCR5 DGCR11 TXNRD2 LOC100996415 TMEM191B USP18 PRODH DGCR9 C22orf29 C22orf39 CLTCL1 CDC45 CLDN5 UFD1L LINC01311 GP1BB HIRA LOC729461 RIMBP3 GNB1L
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR5 DGCR11 DGCR2
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR5 DGCR11 DGCR6 DGCR2 PRODH DGCR9 DGCR10

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