Hs03587028_cn

• Gene Symbol: C2
• Assay Reference Genome Location: Chr.6:31905976 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
nsv601960	Chr.6:31870664 - 31939370 on Build GRCh38	Loss	C2 EHMT2 SLC44A4 ZBTB12 C2-AS1
nsv823505	Chr.6:31903462 - 31907392 on Build GRCh38	Loss	C2
nsv601965	Chr.6:31903977 - 31907478 on Build GRCh38	Loss	C2
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	AGPAT1 MIR6721 HSPA1L LY6G6F RPS18 APOM NEU1 HCG25 PFDN6 DDX39B C2-AS1 SYNGAP1 HLA-DOB LY6G6E ATF6B GPANK1 C6orf47 EGFL8 LOC100507547 LOC100294145 WDR46 PPT2 VWA7 PSMB8-AS1 PSMB8 LY6G5C LTA HLA-DRB6 SKIV2L HLA-DPB2 DDX39B-AS1 DAXX ATP6V1G2 HCG23 PRRT1 STK19 C4A MIR5004 NCR3 PPT2-EGFL8 CUTA PSMB9 HLA-DPA1 HLA-DRB5 SNORD48 BAG6 NOTCH4 CYP21A1P MSH5 MIR6832 SNORD52 HSD17B8 MSH5-SAPCD1 HLA-DOA LST1 HSPA1A LOC102725068 HLA-DQA1 AIF1 LY6G6C BRD2 SAPCD1-AS1 MIR6833 VPS52 PHF1 COL11A2 LOC100287329 ZBTB22 HCG26 MIR219A1 ZBTB9 C6orf48 MIR4646 FKBPL MIR1236 SNORD84 LSM2 CFB SNORA38 BTNL2 PRRC2A RGL2 B3GALT4 SNORD117 DDAH2 NELFE C6orf10 EHMT2 TNXB MICB CLIC1 HLA-DQB1-AS1 C6orf25 VARS TAPBP AGER HLA-DRA PBX2 MIR6834 MCCD1 LTB HLA-DQB2 C2 CSNK2B LY6G6D ABHD16A NFKBIL1 C4B HCG24 SAPCD1 TNXA HLA-DPB1 TNF MIR3135B HSPA1B HLA-DMA LOC101929163 HLA-DQB1 SLC44A4 SLC39A7 RNF5 HLA-DRB1 HCP5 MIR6873 GPSM3 PPP1R2P1 RXRB TAP2 RING1 ZBTB12 ATP6V1G2-DDX39B TAP1 LY6G5B CYP21A2 HLA-DQA2 HLA-DMB DXO KIFC1
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	AGPAT1 MIR6721 HSPA1L FKBPL HLA-B MIR1236 LY6G6F SNORD84 LSM2 CFB SNORA38 APOM NEU1 DDX39B C2-AS1 BTNL2 PRRC2A SNORD117 DDAH2 NELFE LY6G6E C6orf10 MIR6891 EHMT2 ATF6B GPANK1 C6orf47 TNXB MICB CLIC1 EGFL8 C6orf25 VARS LOC100507547 AGER HLA-DRA MICA PPT2 PBX2 MCCD1 VWA7 LTB C2 CSNK2B LY6G5C LTA LY6G6D SKIV2L DDX39B-AS1 ABHD16A ATP6V1G2 NFKBIL1 HCG23 PRRT1 C4B STK19 C4A NCR3 PPT2-EGFL8 SAPCD1 TNXA TNF HSPA1B SNORD48 BAG6 NOTCH4 CYP21A1P LOC101929163 MSH5 MIR6832 SNORD52 SLC44A4 RNF5 MSH5-SAPCD1 HCP5 LST1 GPSM3 HSPA1A LOC102725068 AIF1 ZBTB12 ATP6V1G2-DDX39B LY6G6C SAPCD1-AS1 MIR6833 LY6G5B CYP21A2 LOC100287329 HCG26 C6orf48 DXO MIR4646
esv3567540	Chr.6:31903367 - 31911043 on Build GRCh38	Deletion	C2
esv3608572	Chr.6:31903347 - 31910697 on Build GRCh38	Loss	C2
dgv10463n54	Chr.6:31817661 - 32683279 on Build GRCh38	Loss	AGPAT1 MIR6721 FKBPL MIR1236 CFB NEU1 C2-AS1 BTNL2 NELFE C6orf10 EHMT2 ATF6B TNXB HLA-DQB1-AS1 EGFL8 LOC100507547 AGER HLA-DRA PPT2 PBX2 C2 HLA-DRB6 SKIV2L HCG23 PRRT1 C4B STK19 C4A PPT2-EGFL8 TNXA HLA-DRB5 HSPA1B SNORD48 NOTCH4 CYP21A1P LOC101929163 SNORD52 HLA-DQB1 SLC44A4 RNF5 HLA-DRB1 GPSM3 HSPA1A HLA-DQA1 ZBTB12 MIR6833 CYP21A2 C6orf48 DXO
esv2759415	Chr.6:31903735 - 32241336 on Build GRCh38	Gain+Loss	PRRT1 AGPAT1 C4B MIR6721 FKBPL MIR1236 STK19 C4A CFB PPT2-EGFL8 TNXA C2-AS1 NELFE NOTCH4 CYP21A1P ATF6B RNF5 TNXB GPSM3 EGFL8 LOC100507547 AGER PPT2 PBX2 MIR6833 CYP21A2 C2 SKIV2L DXO
esv2731824	Chr.6:31903427 - 31911207 on Build GRCh38	Deletion	C2
nsv1126749	Chr.6:31457323 - 32594423 on Build GRCh38	Deletion	AGPAT1 MIR6721 HSPA1L FKBPL MIR1236 LY6G6F SNORD84 LSM2 CFB SNORA38 APOM NEU1 DDX39B C2-AS1 BTNL2 PRRC2A SNORD117 DDAH2 NELFE LY6G6E C6orf10 EHMT2 ATF6B GPANK1 C6orf47 TNXB MICB CLIC1 EGFL8 C6orf25 VARS LOC100507547 AGER HLA-DRA PPT2 PBX2 MCCD1 VWA7 LTB C2 CSNK2B LY6G5C LTA LY6G6D HLA-DRB6 SKIV2L DDX39B-AS1 ABHD16A ATP6V1G2 NFKBIL1 HCG23 PRRT1 C4B STK19 C4A NCR3 PPT2-EGFL8 SAPCD1 TNXA TNF HLA-DRB5 HSPA1B SNORD48 BAG6 NOTCH4 CYP21A1P LOC101929163 MSH5 MIR6832 SNORD52 SLC44A4 RNF5 HLA-DRB1 MSH5-SAPCD1 HCP5 LST1 GPSM3 HSPA1A LOC102725068 AIF1 ZBTB12 ATP6V1G2-DDX39B LY6G6C SAPCD1-AS1 MIR6833 LY6G5B CYP21A2 LOC100287329 HCG26 C6orf48 DXO MIR4646
nsv10823	Chr.6:31903219 - 31912449 on Build GRCh38	Loss	C2
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	AGPAT1 MIR6721 HSPA1L LY6G6F RPS18 APOM NEU1 HCG25 PFDN6 DDX39B C2-AS1 SYNGAP1 HLA-DOB LY6G6E ATF6B GPANK1 C6orf47 EGFL8 LOC100507547 LOC100294145 WDR46 PPT2 VWA7 PSMB8-AS1 PSMB8 LY6G5C LTA HLA-DRB6 SKIV2L HLA-DPB2 DDX39B-AS1 DAXX ATP6V1G2 HCG23 PRRT1 STK19 C4A MIR5004 NCR3 PPT2-EGFL8 CUTA PSMB9 HLA-DPA1 HLA-DRB5 SNORD48 BAG6 NOTCH4 CYP21A1P MSH5 MIR6832 SNORD52 HSD17B8 MSH5-SAPCD1 HLA-DOA LST1 HSPA1A LOC102725068 HLA-DQA1 AIF1 LY6G6C BRD2 SAPCD1-AS1 MIR6833 VPS52 PHF1 COL11A2 LOC100287329 ZBTB22 HCG26 MIR219A1 ZBTB9 C6orf48 MIR4646 FKBPL MIR1236 SNORD84 LSM2 CFB SNORA38 BTNL2 PRRC2A RGL2 B3GALT4 SNORD117 DDAH2 NELFE C6orf10 EHMT2 TNXB MICB CLIC1 HLA-DQB1-AS1 C6orf25 VARS TAPBP AGER HLA-DRA PBX2 MIR6834 MCCD1 LTB HLA-DQB2 C2 CSNK2B LY6G6D ABHD16A NFKBIL1 C4B HCG24 SAPCD1 TNXA HLA-DPB1 TNF MIR3135B HSPA1B HLA-DMA LOC101929163 HLA-DQB1 SLC44A4 SLC39A7 RNF5 HLA-DRB1 HCP5 MIR6873 GPSM3 PPP1R2P1 RXRB TAP2 RING1 ZBTB12 ATP6V1G2-DDX39B TAP1 LY6G5B CYP21A2 HLA-DQA2 HLA-DMB DXO KIFC1
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	HSPA1L HLA-B MIR1236 LY6G6F SNORD84 LSM2 CFB SNORA38 APOM NEU1 DDX39B C2-AS1 PRRC2A SNORD117 DDAH2 NELFE LY6G6E MIR6891 EHMT2 GPANK1 C6orf47 TNXB MICB CLIC1 C6orf25 VARS MICA MCCD1 VWA7 LTB C2 CSNK2B LY6G5C LTA LY6G6D SKIV2L DDX39B-AS1 ABHD16A ATP6V1G2 NFKBIL1 C4B STK19 C4A NCR3 SAPCD1 TNXA TNF HSPA1B SNORD48 BAG6 CYP21A1P MSH5 MIR6832 SNORD52 SLC44A4 MSH5-SAPCD1 HCP5 LST1 HSPA1A LOC102725068 AIF1 ZBTB12 ATP6V1G2-DDX39B LY6G6C SAPCD1-AS1 LY6G5B CYP21A2 LOC100287329 HCG26 C6orf48 DXO MIR4646
esv3890823	Chr.6:31903708 - 31910718 on Build GRCh38	Loss	C2
nsv508399	Chr.6:31861697 - 31934646 on Build GRCh38	Deletion	C2 EHMT2 NEU1 SLC44A4 ZBTB12 C2-AS1

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