Hs03610026_cn

• Gene Symbol: C2
• Assay Reference Genome Location: Chr.6:31923254 on build GRCh38
• Cytoband: 6p21.33

Target Gene Details

• Entrez Gene ID: 717
• Gene Name: complement component 2
• Gene Aliases: ARMD14, CO2
• Location: Chr.6:31897785-31945674 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C2	NM_001178063.2			NP_001171534.1
	NM_001282457.1			NP_001269386.1
	AK096258.1
	AK298311.1
	AK298808.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv10463n54	Chr.6:31817661 - 32683279 on Build GRCh38	Loss	HLA-DRA CFB LOC101929163 AGER BTNL2 FKBPL ZBTB12 PPT2-EGFL8 PPT2 TNXA ATF6B SNORD48 C6orf10 HLA-DQA1 MIR1236 GPSM3 HLA-DRB5 C4A LOC100507547 SKIV2L C6orf48 HSPA1A SLC44A4 CYP21A2 C2-AS1 C2 NELFE CYP21A1P EHMT2 STK19 TNXB HSPA1B HLA-DRB6 NEU1 EGFL8 HCG23 PBX2 DXO C4B MIR6833 PRRT1 NOTCH4 RNF5 AGPAT1 MIR6721 HLA-DRB1 HLA-DQB1 HLA-DQB1-AS1 SNORD52
esv2759415	Chr.6:31903735 - 32241336 on Build GRCh38	Gain+Loss	CYP21A2 C2-AS1 C2 CFB NELFE CYP21A1P AGER STK19 FKBPL PPT2-EGFL8 TNXB PPT2 TNXA ATF6B EGFL8 MIR1236 GPSM3 C4A PBX2 DXO C4B MIR6833 LOC100507547 PRRT1 NOTCH4 RNF5 AGPAT1 SKIV2L MIR6721
nsv601960	Chr.6:31870664 - 31939370 on Build GRCh38	Loss	C2-AS1 EHMT2 C2 ZBTB12 SLC44A4
nsv1126749	Chr.6:31457323 - 32594423 on Build GRCh38	Deletion	NCR3 LY6G6F HLA-DRA TNF LY6G5C CFB LOC101929163 PRRC2A AGER ATP6V1G2 BTNL2 C6orf25 FKBPL ZBTB12 PPT2-EGFL8 SNORD84 PPT2 TNXA MSH5 ATF6B APOM SNORD48 C6orf10 MIR1236 C6orf47 GPSM3 HLA-DRB5 C4A SAPCD1 LST1 DDAH2 LTA LY6G6C AIF1 LOC100507547 SKIV2L C6orf48 HSPA1A SLC44A4 ABHD16A CYP21A2 C2-AS1 C2 LOC100287329 NFKBIL1 MICB HCG26 SAPCD1-AS1 MSH5-SAPCD1 DDX39B CSNK2B HCP5 NELFE CYP21A1P MIR4646 EHMT2 STK19 LSM2 TNXB HSPA1B MIR6832 HLA-DRB6 GPANK1 HSPA1L CLIC1 LY6G6D NEU1 SNORA38 EGFL8 HCG23 PBX2 DXO C4B MIR6833 LOC102725068 LY6G6E VWA7 LY6G5B PRRT1 DDX39B-AS1 NOTCH4 RNF5 SNORD117 AGPAT1 MIR6721 LTB HLA-DRB1 VARS ATP6V1G2-DDX39B SNORD52 BAG6 MCCD1
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	NCR3 ZBTB9 TNF LY6G5C HLA-DMA TAP1 RPS18 CFB LOC101929163 PSMB9 PRRC2A CUTA C6orf25 PPT2-EGFL8 SNORD84 TNXA MSH5 APOM C6orf10 HLA-DQA1 MIR1236 GPSM3 HLA-DRB5 PFDN6 C4A HLA-DPA1 DDAH2 LTA RGL2 HLA-DMB AIF1 LOC100507547 SKIV2L HSPA1A ABHD16A CYP21A2 ZBTB22 C2-AS1 HCG24 NFKBIL1 MICB HCG26 MSH5-SAPCD1 RING1 CSNK2B NELFE TAPBP MIR219A1 SLC39A7 HLA-DRB6 HSPA1L NEU1 PSMB8-AS1 HCG23 PHF1 PBX2 TAP2 MIR6834 PRRT1 SNORD117 MIR6721 LTB HLA-DRB1 VARS BAG6 B3GALT4 LY6G6F KIFC1 HLA-DRA LOC100294145 HCG25 AGER ATP6V1G2 BTNL2 FKBPL ZBTB12 PPT2 ATF6B SNORD48 WDR46 RXRB PSMB8 C6orf47 SAPCD1 LST1 HLA-DOB LY6G6C MIR6873 VPS52 C6orf48 SLC44A4 C2 LOC100287329 HLA-DPB1 SAPCD1-AS1 DDX39B HCP5 CYP21A1P MIR4646 HLA-DQB2 MIR5004 EHMT2 STK19 MIR3135B BRD2 HLA-DQA2 LSM2 TNXB PPP1R2P1 HSPA1B COL11A2 MIR6832 HLA-DPB2 GPANK1 CLIC1 LY6G6D DAXX SNORA38 EGFL8 SYNGAP1 HLA-DOA DXO C4B MIR6833 LOC102725068 LY6G6E VWA7 LY6G5B DDX39B-AS1 NOTCH4 RNF5 AGPAT1 HLA-DQB1 HLA-DQB1-AS1 ATP6V1G2-DDX39B SNORD52 HSD17B8 MCCD1
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	NCR3 LY6G6F TNF LY6G5C MICA CFB MIR6891 PRRC2A ATP6V1G2 C6orf25 ZBTB12 SNORD84 TNXA MSH5 APOM SNORD48 HLA-B MIR1236 C6orf47 C4A SAPCD1 LST1 DDAH2 LTA LY6G6C AIF1 SKIV2L C6orf48 HSPA1A SLC44A4 ABHD16A CYP21A2 C2-AS1 C2 LOC100287329 NFKBIL1 MICB HCG26 SAPCD1-AS1 MSH5-SAPCD1 DDX39B CSNK2B HCP5 NELFE CYP21A1P MIR4646 EHMT2 STK19 LSM2 TNXB HSPA1B MIR6832 GPANK1 HSPA1L CLIC1 LY6G6D NEU1 SNORA38 DXO C4B LOC102725068 LY6G6E VWA7 LY6G5B DDX39B-AS1 SNORD117 LTB VARS ATP6V1G2-DDX39B SNORD52 BAG6 MCCD1
nsv830628	Chr.6:31919777 - 31979823 on Build GRCh38	Loss	C2-AS1 STK19 C2 MIR1236 SKIV2L CFB NELFE DXO
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	NCR3 ZBTB9 TNF LY6G5C HLA-DMA TAP1 RPS18 CFB LOC101929163 PSMB9 PRRC2A CUTA C6orf25 PPT2-EGFL8 SNORD84 TNXA MSH5 APOM C6orf10 HLA-DQA1 MIR1236 GPSM3 HLA-DRB5 PFDN6 C4A HLA-DPA1 DDAH2 LTA RGL2 HLA-DMB AIF1 LOC100507547 SKIV2L HSPA1A ABHD16A CYP21A2 ZBTB22 C2-AS1 HCG24 NFKBIL1 MICB HCG26 MSH5-SAPCD1 RING1 CSNK2B NELFE TAPBP MIR219A1 SLC39A7 HLA-DRB6 HSPA1L NEU1 PSMB8-AS1 HCG23 PHF1 PBX2 TAP2 MIR6834 PRRT1 SNORD117 MIR6721 LTB HLA-DRB1 VARS BAG6 B3GALT4 LY6G6F KIFC1 HLA-DRA LOC100294145 HCG25 AGER ATP6V1G2 BTNL2 FKBPL ZBTB12 PPT2 ATF6B SNORD48 WDR46 RXRB PSMB8 C6orf47 SAPCD1 LST1 HLA-DOB LY6G6C MIR6873 VPS52 C6orf48 SLC44A4 C2 LOC100287329 HLA-DPB1 SAPCD1-AS1 DDX39B HCP5 CYP21A1P MIR4646 HLA-DQB2 MIR5004 EHMT2 STK19 MIR3135B BRD2 HLA-DQA2 LSM2 TNXB PPP1R2P1 HSPA1B COL11A2 MIR6832 HLA-DPB2 GPANK1 CLIC1 LY6G6D DAXX SNORA38 EGFL8 SYNGAP1 HLA-DOA DXO C4B MIR6833 LOC102725068 LY6G6E VWA7 LY6G5B DDX39B-AS1 NOTCH4 RNF5 AGPAT1 HLA-DQB1 HLA-DQB1-AS1 ATP6V1G2-DDX39B SNORD52 HSD17B8 MCCD1
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	NCR3 LY6G6F HLA-DRA TNF LY6G5C MICA CFB LOC101929163 MIR6891 PRRC2A AGER ATP6V1G2 BTNL2 C6orf25 FKBPL ZBTB12 PPT2-EGFL8 SNORD84 PPT2 TNXA MSH5 ATF6B APOM SNORD48 HLA-B C6orf10 MIR1236 C6orf47 GPSM3 C4A SAPCD1 LST1 DDAH2 LTA LY6G6C AIF1 LOC100507547 SKIV2L C6orf48 HSPA1A SLC44A4 ABHD16A CYP21A2 C2-AS1 C2 LOC100287329 NFKBIL1 MICB HCG26 SAPCD1-AS1 MSH5-SAPCD1 DDX39B CSNK2B HCP5 NELFE CYP21A1P MIR4646 EHMT2 STK19 LSM2 TNXB HSPA1B MIR6832 GPANK1 HSPA1L CLIC1 LY6G6D NEU1 SNORA38 EGFL8 HCG23 PBX2 DXO C4B MIR6833 LOC102725068 LY6G6E VWA7 LY6G5B PRRT1 DDX39B-AS1 NOTCH4 RNF5 SNORD117 AGPAT1 MIR6721 LTB VARS ATP6V1G2-DDX39B SNORD52 BAG6 MCCD1
nsv508399	Chr.6:31861697 - 31934646 on Build GRCh38	Deletion	NEU1 C2-AS1 EHMT2 C2 ZBTB12 SLC44A4

More Information

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

Gene Ontology Categories:

Process(es)

proteolysis
complement activation
complement activation, classical pathway
response to nutrient
regulation of complement activation
innate immune response
positive regulation of apoptotic cell clearance

Function(s)

serine-type endopeptidase activity
metal ion binding