Hs01272571_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19038708 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	1935	NP_001167004.1
	NM_001173534.1	9	1926	NP_001167005.1
	NM_001184781.1	10	2049	NP_001171710.1
	NM_005137.2	10	2058	NP_005128.1
	NR_033674.1	9	1943
	AK291670.1	10	2016
	AK295697.1
	AK303130.1	10	1968
	AK304382.1	9	1893
	BC032430.1	10	1994	AAH32430.1
	BC040500.1	10	2053	AAH40500.1
	CR456433.1			CAG30319.1
	CR936871.1	11	2393	CAI59783.1
	D79985.1	10	1995	BAA11480.1
	L77560.1	10	1959
	X83545.1	10	1959	CAA58536.1
	X84076.1	10	1956	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	CLTCL1 DGCR11 TSSK2 DGCR14 DGCR5 SLC25A1 GSC2 DGCR9 DGCR2 DGCR10 LINC01311
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	LOC100996432 DGCR11 DGCR5 DGCR6 DGCR9 PRODH DGCR2 LOC102725072 DGCR10
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	TMEM191B DGCR11 RIMBP3 DGCR5 LOC642643 DGCR9 PI4KAP1 PRODH LOC100996415 LOC100996401 DGCR10 LOC100996432 DGCR6 FAM230A DGCR2 LOC102725072 USP18 GGT3P LOC729461
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	TMEM191B RIMBP3 DGCR5 LOC642643 DGCR9 PI4KAP1 PRODH LOC100996415 LOC100996401 DGCR10 LOC100996432 DGCR6 FAM230A DGCR2 LOC102725072 USP18 GGT3P LOC729461
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	LOC100996432 DGCR5 DGCR6 DGCR9 PRODH DGCR2 DGCR10
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	LOC100996432 DGCR11 DGCR5 DGCR6 DGCR9 PRODH DGCR2 DGCR10
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	TMEM191B RIMBP3 DGCR5 LOC642643 DGCR9 PI4KAP1 PRODH LOC100996415 LOC100996401 DGCR10 LOC100996432 DGCR6 FAM230A DGCR2 LOC102725072 USP18 GGT3P LOC729461
dgv543n27	Chr.22:18890274 - 19046019 on Build GRCh38	Gain	LOC100996432 DGCR5 DGCR6 DGCR9 PRODH DGCR2 DGCR10
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	PEX26 TMEM191B DGCR11 RIMBP3 DGCR5 LOC642643 DGCR9 PI4KAP1 PRODH LOC100996415 LOC100996401 DGCR10 TUBA8 LOC100996432 DGCR6 FAM230A DGCR2 LOC102725072 USP18 GGT3P LOC729461
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	GNB1L DGCR11 DGCR14 GSC2 SEPT5-GP1BB LOC642643 DGCR9 PI4KAP1 PRODH LOC100996415 MIR4761 DGCR10 CLTCL1 TSSK2 SEPT5 SLC25A1 C22orf29 HIRA FAM230A COMT USP18 GGT3P LOC729461 TXNRD2 C22orf39 CLDN5 TMEM191B RIMBP3 DGCR5 TBX1 UFD1L LOC100996401 GP1BB CDC45 LOC100996432 DGCR6 MRPL40 DGCR2 LOC102725072 LINC01311 LINC00895
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR11 DGCR5 DGCR2
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR11 DGCR5 DGCR6 DGCR9 PRODH DGCR2 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