Hs03582484_cn

• Gene Symbol: C2
• Assay Reference Genome Location: Chr.6:31904974 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-AS1 ZBTB12 C2 EHMT2 SLC44A4
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	HCG26 HLA-DRB1 CUTA CLIC1 KIFC1 LY6G6C HLA-DQB2 NELFE LY6G5C ZBTB12 TNXA MIR3135B SNORD117 DDX39B C2-AS1 VPS52 CSNK2B SAPCD1 NEU1 TAP2 ATP6V1G2-DDX39B C4B ZBTB22 RXRB WDR46 COL11A2 HCG23 B3GALT4 BRD2 LY6G6F VARS VWA7 LOC102725068 LOC100287329 SKIV2L TNXB APOM PHF1 PSMB8-AS1 LY6G6D STK19 NOTCH4 C2 HLA-DPB1 HLA-DMA LY6G5B C4A FKBPL MIR6873 MIR6721 MIR6833 HLA-DRB5 PFDN6 PSMB9 SYNGAP1 C6orf48 MICB HLA-DRB6 EHMT2 SLC44A4 BTNL2 MCCD1 BAG6 PPT2 RGL2 ATF6B PSMB8 LTB MIR6834 AIF1 RNF5 DXO SAPCD1-AS1 MIR5004 SNORD48 AGPAT1 C6orf47 ABHD16A PPP1R2P1 TNF DDX39B-AS1 TAP1 HLA-DOA NCR3 HLA-DOB HSPA1A MIR6832 LSM2 MIR4646 LOC101929163 HLA-DRA CFB SNORD52 PRRT1 MIR1236 SNORD84 ZBTB9 CYP21A2 MSH5-SAPCD1 PRRC2A AGER PPT2-EGFL8 LOC100294145 C6orf10 RING1 SNORA38 HLA-DQA2 HCP5 LST1 HLA-DQA1 TAPBP C6orf25 HSPA1L DDAH2 NFKBIL1 MSH5 HLA-DPA1 HLA-DMB GPSM3 SLC39A7 CYP21A1P RPS18 LY6G6E HLA-DPB2 DAXX LOC100507547 MIR219A1 HLA-DQB1-AS1 PBX2 HSPA1B HCG24 EGFL8 GPANK1 ATP6V1G2 HSD17B8 HLA-DQB1 HCG25 LTA
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	MCCD1 HCG26 BAG6 CLIC1 PPT2 ATF6B LTB LY6G6C AIF1 NELFE LY6G5C ZBTB12 RNF5 TNXA DXO SAPCD1-AS1 HLA-B SNORD117 SNORD48 AGPAT1 DDX39B C6orf47 ABHD16A C2-AS1 MIR6891 CSNK2B SAPCD1 TNF DDX39B-AS1 NCR3 NEU1 HSPA1A MIR6832 LSM2 MIR4646 LOC101929163 ATP6V1G2-DDX39B HLA-DRA C4B CFB SNORD52 PRRT1 MIR1236 SNORD84 CYP21A2 MSH5-SAPCD1 PRRC2A AGER PPT2-EGFL8 HCG23 C6orf10 SNORA38 LY6G6F VARS HCP5 VWA7 LOC102725068 LOC100287329 SKIV2L LST1 C6orf25 TNXB APOM HSPA1L DDAH2 LY6G6D STK19 NOTCH4 NFKBIL1 C2 MSH5 LY6G5B C4A FKBPL MIR6721 MIR6833 GPSM3 CYP21A1P LY6G6E MICA LOC100507547 PBX2 HSPA1B C6orf48 EGFL8 GPANK1 MICB ATP6V1G2 EHMT2 SLC44A4 BTNL2 LTA
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	HLA-DRB1 PPT2 ATF6B NELFE ZBTB12 RNF5 TNXA DXO SNORD48 AGPAT1 C2-AS1 NEU1 HSPA1A LOC101929163 HLA-DRA C4B CFB SNORD52 PRRT1 MIR1236 CYP21A2 AGER PPT2-EGFL8 HCG23 C6orf10 SKIV2L HLA-DQA1 TNXB STK19 NOTCH4 C2 C4A FKBPL MIR6721 MIR6833 GPSM3 HLA-DRB5 CYP21A1P LOC100507547 HLA-DQB1-AS1 PBX2 HSPA1B C6orf48 EGFL8 HLA-DRB6 HLA-DQB1 EHMT2 SLC44A4 BTNL2
esv2759415	Chr.6:31903735 - 32241336 on Build GRCh38	Gain+Loss	PPT2 ATF6B NELFE RNF5 TNXA DXO SKIV2L AGPAT1 TNXB C2-AS1 STK19 NOTCH4 C2 C4A FKBPL MIR6721 MIR6833 GPSM3 CYP21A1P LOC100507547 PBX2 C4B CFB EGFL8 PRRT1 MIR1236 CYP21A2 AGER PPT2-EGFL8
esv2731824	Chr.6:31903427 - 31911207 on Build GRCh38	Deletion	C2
nsv1126749	Chr.6:31457323 - 32594423 on Build GRCh38	Deletion	MCCD1 HCG26 BAG6 HLA-DRB1 CLIC1 PPT2 ATF6B LTB LY6G6C AIF1 NELFE LY6G5C ZBTB12 RNF5 TNXA DXO SAPCD1-AS1 SNORD117 SNORD48 AGPAT1 DDX39B C6orf47 ABHD16A C2-AS1 CSNK2B SAPCD1 TNF DDX39B-AS1 NCR3 NEU1 HSPA1A MIR6832 LSM2 MIR4646 LOC101929163 ATP6V1G2-DDX39B HLA-DRA C4B CFB SNORD52 PRRT1 MIR1236 SNORD84 CYP21A2 MSH5-SAPCD1 PRRC2A AGER PPT2-EGFL8 HCG23 C6orf10 SNORA38 LY6G6F VARS HCP5 VWA7 LOC102725068 LOC100287329 SKIV2L LST1 C6orf25 TNXB APOM HSPA1L DDAH2 LY6G6D STK19 NOTCH4 NFKBIL1 C2 MSH5 LY6G5B C4A FKBPL MIR6721 MIR6833 GPSM3 HLA-DRB5 CYP21A1P LY6G6E LOC100507547 PBX2 HSPA1B C6orf48 EGFL8 GPANK1 MICB ATP6V1G2 HLA-DRB6 EHMT2 SLC44A4 BTNL2 LTA
nsv10823	Chr.6:31903219 - 31912449 on Build GRCh38	Loss	C2
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	HCG26 HLA-DRB1 CUTA CLIC1 KIFC1 LY6G6C HLA-DQB2 NELFE LY6G5C ZBTB12 TNXA MIR3135B SNORD117 DDX39B C2-AS1 VPS52 CSNK2B SAPCD1 NEU1 TAP2 ATP6V1G2-DDX39B C4B ZBTB22 RXRB WDR46 COL11A2 HCG23 B3GALT4 BRD2 LY6G6F VARS VWA7 LOC102725068 LOC100287329 SKIV2L TNXB APOM PHF1 PSMB8-AS1 LY6G6D STK19 NOTCH4 C2 HLA-DPB1 HLA-DMA LY6G5B C4A FKBPL MIR6873 MIR6721 MIR6833 HLA-DRB5 PFDN6 PSMB9 SYNGAP1 C6orf48 MICB HLA-DRB6 EHMT2 SLC44A4 BTNL2 MCCD1 BAG6 PPT2 RGL2 ATF6B PSMB8 LTB MIR6834 AIF1 RNF5 DXO SAPCD1-AS1 MIR5004 SNORD48 AGPAT1 C6orf47 ABHD16A PPP1R2P1 TNF DDX39B-AS1 TAP1 HLA-DOA NCR3 HLA-DOB HSPA1A MIR6832 LSM2 MIR4646 LOC101929163 HLA-DRA CFB SNORD52 PRRT1 MIR1236 SNORD84 ZBTB9 CYP21A2 MSH5-SAPCD1 PRRC2A AGER PPT2-EGFL8 LOC100294145 C6orf10 RING1 SNORA38 HLA-DQA2 HCP5 LST1 HLA-DQA1 TAPBP C6orf25 HSPA1L DDAH2 NFKBIL1 MSH5 HLA-DPA1 HLA-DMB GPSM3 SLC39A7 CYP21A1P RPS18 LY6G6E HLA-DPB2 DAXX LOC100507547 MIR219A1 HLA-DQB1-AS1 PBX2 HSPA1B HCG24 EGFL8 GPANK1 ATP6V1G2 HSD17B8 HLA-DQB1 HCG25 LTA
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	MCCD1 HCG26 BAG6 CLIC1 LTB LY6G6C AIF1 NELFE LY6G5C ZBTB12 TNXA DXO SAPCD1-AS1 HLA-B SNORD117 SNORD48 DDX39B C6orf47 ABHD16A C2-AS1 MIR6891 CSNK2B SAPCD1 TNF DDX39B-AS1 NCR3 NEU1 HSPA1A MIR6832 LSM2 MIR4646 ATP6V1G2-DDX39B C4B CFB SNORD52 MIR1236 SNORD84 CYP21A2 MSH5-SAPCD1 PRRC2A SNORA38 LY6G6F VARS HCP5 VWA7 LOC102725068 LOC100287329 SKIV2L LST1 C6orf25 TNXB APOM HSPA1L DDAH2 LY6G6D STK19 NFKBIL1 C2 MSH5 LY6G5B C4A CYP21A1P LY6G6E MICA HSPA1B C6orf48 GPANK1 MICB ATP6V1G2 EHMT2 SLC44A4 LTA
esv3890823	Chr.6:31903708 - 31910718 on Build GRCh38	Loss	C2
nsv508399	Chr.6:31861697 - 31934646 on Build GRCh38	Deletion	NEU1 C2-AS1 ZBTB12 C2 EHMT2 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