Hs01794866_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19041075 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 9

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	DGCR10 DGCR14 DGCR9 TSSK2 SLC25A1 DGCR11 GSC2 DGCR2 CLTCL1 DGCR5 LINC01311
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	DGCR10 DGCR9 LOC102725072 DGCR11 DGCR2 LOC100996432 DGCR6 DGCR5 PRODH
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	RIMBP3 DGCR9 DGCR11 LOC100996432 DGCR6 PRODH PI4KAP1 DGCR10 FAM230A LOC729461 LOC102725072 DGCR2 LOC100996415 GGT3P LOC100996401 TMEM191B LOC642643 DGCR5 USP18
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	DGCR10 DGCR9 DGCR2 LOC100996432 DGCR6 DGCR5 PRODH
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	DGCR10 DGCR9 DGCR11 DGCR2 LOC100996432 DGCR6 DGCR5 PRODH
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	RIMBP3 DGCR9 LOC100996432 DGCR6 PRODH PI4KAP1 DGCR10 FAM230A LOC729461 LOC102725072 DGCR2 LOC100996415 GGT3P LOC100996401 TMEM191B LOC642643 DGCR5 USP18
dgv543n27	Chr.22:18890274 - 19046019 on Build GRCh38	Gain	DGCR10 DGCR9 DGCR2 LOC100996432 DGCR6 DGCR5 PRODH
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	RIMBP3 DGCR9 DGCR11 LOC100996432 DGCR6 PRODH PI4KAP1 DGCR10 FAM230A LOC729461 LOC102725072 DGCR2 TUBA8 LOC100996415 GGT3P LOC100996401 TMEM191B LOC642643 PEX26 DGCR5 USP18
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	SEPT5-GP1BB GNB1L HIRA C22orf39 GP1BB DGCR11 CDC45 CLTCL1 DGCR6 LINC01311 CLDN5 PI4KAP1 LOC102725072 TSSK2 LOC100996415 UFD1L GGT3P LOC642643 LINC00895 DGCR5 DGCR14 RIMBP3 MRPL40 DGCR9 LOC100996432 PRODH COMT DGCR10 FAM230A C22orf29 LOC729461 TBX1 SLC25A1 TXNRD2 GSC2 DGCR2 SEPT5 LOC100996401 MIR4761 TMEM191B USP18
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR11 DGCR2 DGCR5
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR10 DGCR9 DGCR11 DGCR2 DGCR6 DGCR5 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