Hs00592751_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19037475 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	3168	NP_001167004.1
	NM_001173534.1	9	3159	NP_001167005.1
	NM_001184781.1	10	3282	NP_001171710.1
	NM_005137.2	10	3291	NP_005128.1
	NR_033674.1	9	3176
	BC040500.1	10	3286	AAH40500.1
	CR936871.1	11	3626	CAI59783.1
	D79985.1	10	3228	BAA11480.1
	L77560.1	10	3192
	X83545.1	10	3192	CAA58536.1
	X84076.1	10	3189	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 LINC01311 DGCR2 DGCR11 TSSK2 DGCR14 GSC2 CLTCL1 DGCR10 DGCR9 SLC25A1
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	DGCR5 DGCR2 LOC102725072 DGCR6 DGCR11 DGCR10 DGCR9 PRODH LOC100996432
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	RIMBP3 DGCR2 LOC729461 LOC100996415 FAM230A LOC642643 PRODH LOC100996432 DGCR5 GGT3P TMEM191B USP18 LOC102725072 DGCR6 DGCR11 PI4KAP1 DGCR10 DGCR9 LOC100996401
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	DGCR5 DGCR2 DGCR6 DGCR10 DGCR9 PRODH LOC100996432
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	RIMBP3 DGCR2 LOC729461 LOC100996415 FAM230A LOC642643 PRODH LOC100996432 DGCR5 GGT3P TMEM191B USP18 LOC102725072 DGCR6 PI4KAP1 DGCR10 DGCR9 LOC100996401
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	DGCR5 DGCR2 DGCR6 DGCR11 DGCR10 DGCR9 PRODH LOC100996432
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	RIMBP3 DGCR2 LOC729461 LOC100996415 FAM230A LOC642643 PRODH LOC100996432 DGCR5 GGT3P TMEM191B USP18 LOC102725072 DGCR6 PI4KAP1 DGCR10 DGCR9 LOC100996401
dgv543n27	Chr.22:18890274 - 19046019 on Build GRCh38	Gain	DGCR5 DGCR2 DGCR6 DGCR10 DGCR9 PRODH LOC100996432
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	RIMBP3 DGCR2 LOC729461 LOC100996415 FAM230A LOC642643 PRODH LOC100996432 TUBA8 DGCR5 GGT3P TMEM191B USP18 LOC102725072 DGCR6 DGCR11 PI4KAP1 DGCR10 PEX26 DGCR9 LOC100996401
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LOC729461 C22orf29 DGCR14 GSC2 HIRA LOC100996415 CDC45 CLTCL1 LOC642643 MRPL40 CLDN5 SLC25A1 LOC100996432 DGCR5 LINC01311 LINC00895 TXNRD2 SEPT5 LOC102725072 DGCR6 DGCR11 GP1BB PI4KAP1 TBX1 DGCR10 DGCR9 LOC100996401 SEPT5-GP1BB C22orf39 RIMBP3 DGCR2 COMT FAM230A UFD1L PRODH GGT3P TMEM191B MIR4761 USP18 TSSK2 GNB1L
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR5 DGCR2 DGCR11
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR5 DGCR2 DGCR6 DGCR11 DGCR10 DGCR9 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