Hs01221312_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19038369 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	2274	NP_001167004.1
	NM_001173534.1	9	2265	NP_001167005.1
	NM_001184781.1	10	2388	NP_001171710.1
	NM_005137.2	10	2397	NP_005128.1
	NR_033674.1	9	2282
	BC032430.1	10	2333	AAH32430.1
	BC040500.1	10	2392	AAH40500.1
	CR936871.1	11	2732	CAI59783.1
	D79985.1	10	2334	BAA11480.1
	L77560.1	10	2298
	X83545.1	10	2298	CAA58536.1
	X84076.1	10	2295	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	TSSK2 SLC25A1 DGCR2 DGCR9 LINC01311 CLTCL1 GSC2 DGCR10 DGCR5 DGCR11 DGCR14
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	LOC102725072 DGCR2 DGCR9 LOC100996432 DGCR6 DGCR10 PRODH DGCR5 DGCR11
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	LOC100996401 TMEM191B USP18 DGCR9 LOC100996432 DGCR6 DGCR10 LOC102725072 LOC100996415 FAM230A DGCR2 LOC729461 RIMBP3 PRODH PI4KAP1 LOC642643 DGCR5 DGCR11 GGT3P
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	DGCR2 DGCR9 LOC100996432 DGCR6 DGCR10 PRODH DGCR5
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	LOC100996401 TMEM191B USP18 DGCR9 LOC100996432 DGCR6 DGCR10 LOC102725072 LOC100996415 FAM230A DGCR2 LOC729461 RIMBP3 PRODH PI4KAP1 LOC642643 DGCR5 GGT3P
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	DGCR2 DGCR9 LOC100996432 DGCR6 DGCR10 PRODH DGCR5 DGCR11
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	LOC100996401 TMEM191B USP18 DGCR9 LOC100996432 DGCR6 DGCR10 LOC102725072 LOC100996415 FAM230A DGCR2 LOC729461 RIMBP3 PRODH PI4KAP1 LOC642643 DGCR5 GGT3P
dgv543n27	Chr.22:18890274 - 19046019 on Build GRCh38	Gain	DGCR2 DGCR9 LOC100996432 DGCR6 DGCR10 PRODH DGCR5
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	PEX26 LOC100996401 TMEM191B TUBA8 USP18 DGCR9 LOC100996432 DGCR6 DGCR10 LOC102725072 LOC100996415 FAM230A DGCR2 LOC729461 RIMBP3 PRODH PI4KAP1 LOC642643 DGCR5 DGCR11 GGT3P
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	C22orf29 TMEM191B MIR4761 LOC100996432 DGCR6 MRPL40 GSC2 DGCR10 LOC102725072 COMT SEPT5 C22orf39 HIRA GP1BB PRODH PI4KAP1 LOC642643 DGCR5 DGCR14 TSSK2 GNB1L LOC100996401 TBX1 USP18 DGCR9 CDC45 UFD1L SLC25A1 LOC100996415 LINC00895 SEPT5-GP1BB FAM230A DGCR2 CLDN5 LOC729461 LINC01311 RIMBP3 CLTCL1 TXNRD2 DGCR11 GGT3P
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR2 DGCR5 DGCR11
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR2 DGCR9 DGCR6 DGCR10 PRODH DGCR5 DGCR11

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