Hs01720123_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19039059 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: Overlaps Intron 9 - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DGCR2	NM_001173533.1			NP_001167004.1
	NM_001173534.1			NP_001167005.1
	NM_001184781.1			NP_001171710.1
	NM_005137.2			NP_005128.1
	NR_033674.1
	AK291670.1
	AK295697.1
	AK296337.1
	AK303130.1
	AK304382.1
	BC032430.1			AAH32430.1
	BC040500.1			AAH40500.1
	CR456433.1			CAG30319.1
	CR936871.1			CAI59783.1
	D79985.1			BAA11480.1
	L46352.1			AAB59561.1
	L77560.1
	X83545.1			CAA58536.1
	X84076.1			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 DGCR9 DGCR14 DGCR10 GSC2 CLTCL1 SLC25A1 DGCR2 DGCR11 TSSK2 LINC01311
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	DGCR5 DGCR9 DGCR10 LOC100996432 DGCR2 LOC102725072 DGCR11 DGCR6 PRODH
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	TMEM191B PI4KAP1 USP18 LOC100996401 DGCR2 LOC102725072 LOC100996415 DGCR6 DGCR5 DGCR9 RIMBP3 DGCR10 FAM230A LOC729461 LOC100996432 GGT3P DGCR11 PRODH LOC642643
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	DGCR5 DGCR9 DGCR10 LOC100996432 DGCR2 DGCR6 PRODH
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	TMEM191B PI4KAP1 USP18 LOC100996401 DGCR2 LOC102725072 LOC100996415 DGCR6 DGCR5 DGCR9 RIMBP3 DGCR10 FAM230A LOC729461 LOC100996432 GGT3P PRODH LOC642643
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	DGCR5 DGCR9 DGCR10 LOC100996432 DGCR2 DGCR11 DGCR6 PRODH
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	TMEM191B PI4KAP1 USP18 LOC100996401 DGCR2 LOC102725072 LOC100996415 DGCR6 DGCR5 DGCR9 RIMBP3 DGCR10 FAM230A LOC729461 LOC100996432 GGT3P PRODH LOC642643
dgv543n27	Chr.22:18890274 - 19046019 on Build GRCh38	Gain	DGCR5 DGCR9 DGCR10 LOC100996432 DGCR2 DGCR6 PRODH
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	TMEM191B PI4KAP1 USP18 LOC100996401 DGCR2 LOC102725072 LOC100996415 DGCR6 TUBA8 DGCR5 DGCR9 PEX26 RIMBP3 DGCR10 FAM230A LOC729461 LOC100996432 GGT3P DGCR11 PRODH LOC642643
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	HIRA PI4KAP1 DGCR14 TBX1 MRPL40 C22orf29 LOC100996401 C22orf39 DGCR2 CDC45 LOC102725072 LOC100996415 DGCR6 DGCR5 FAM230A CLTCL1 LOC729461 SLC25A1 GNB1L LOC100996432 GP1BB PRODH LOC642643 TSSK2 LINC01311 SEPT5 TMEM191B USP18 TXNRD2 UFD1L CLDN5 MIR4761 DGCR9 RIMBP3 DGCR10 COMT GSC2 SEPT5-GP1BB GGT3P DGCR11 LINC00895
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR5 DGCR2 DGCR11
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR5 DGCR9 DGCR10 DGCR2 DGCR11 DGCR6 PRODH

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

apolipoprotein

Gene Ontology Categories:

Process(es)

cell adhesion
organ morphogenesis
cognition

Function(s)

carbohydrate binding