Hs03599683_cn

• Gene Symbol: C2
• Assay Reference Genome Location: Chr.6:31902714 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
nsv10822	Chr.6:31898992 - 31903913 on Build GRCh38	Gain	ZBTB12 C2
dgv10463n54	Chr.6:31817661 - 32683279 on Build GRCh38	Loss	MIR1236 AGER STK19 TNXA HSPA1B HSPA1A DXO SKIV2L HLA-DRB5 CFB HLA-DQB1 ATF6B C2-AS1 NOTCH4 HLA-DRB1 RNF5 PRRT1 EHMT2 HLA-DRA PBX2 C2 MIR6721 AGPAT1 SLC44A4 ZBTB12 HCG23 BTNL2 MIR6833 C6orf48 TNXB SNORD52 GPSM3 LOC100507547 LOC101929163 HLA-DQB1-AS1 PPT2 PPT2-EGFL8 HLA-DQA1 NEU1 CYP21A1P EGFL8 NELFE HLA-DRB6 FKBPL C6orf10 C4A SNORD48 C4B CYP21A2
nsv601960	Chr.6:31870664 - 31939370 on Build GRCh38	Loss	EHMT2 ZBTB12 C2 C2-AS1 SLC44A4
nsv1126749	Chr.6:31457323 - 32594423 on Build GRCh38	Deletion	MIR1236 ATP6V1G2 AGER LOC102725068 STK19 TNXA LTA HSPA1B VARS HSPA1L LST1 MSH5 HSPA1A LY6G6D LOC100287329 C6orf47 LY6G6E CLIC1 DXO SKIV2L HLA-DRB5 CFB AIF1 ATF6B ABHD16A C2-AS1 NOTCH4 HCP5 HLA-DRB1 RNF5 PRRT1 APOM EHMT2 HLA-DRA PBX2 C2 SNORD117 MIR6721 AGPAT1 HCG26 SLC44A4 SAPCD1 LY6G5B MICB ZBTB12 MIR6832 MCCD1 LSM2 NCR3 HCG23 BTNL2 MIR6833 C6orf48 TNXB NFKBIL1 CSNK2B SNORD52 GPSM3 LOC100507547 C6orf25 MIR4646 LOC101929163 PPT2 PPT2-EGFL8 PRRC2A LY6G5C NEU1 ATP6V1G2-DDX39B CYP21A1P EGFL8 NELFE HLA-DRB6 SNORD84 FKBPL MSH5-SAPCD1 GPANK1 C6orf10 SAPCD1-AS1 DDX39B C4A SNORA38 SNORD48 C4B CYP21A2 DDX39B-AS1 TNF DDAH2 VWA7 BAG6 LTB LY6G6C LY6G6F
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	RXRB MIR1236 BRD2 RGL2 COL11A2 TAPBP LTA HSPA1B LST1 RPS18 HSPA1A RING1 C6orf47 SYNGAP1 PSMB8 LY6G6E DAXX SKIV2L CFB PHF1 HLA-DQB1 LOC100294145 ABHD16A MIR6834 TAP2 HLA-DPB1 PRRT1 APOM HLA-DRA PBX2 PFDN6 HLA-DMA AGPAT1 SLC44A4 SAPCD1 ZBTB12 MIR6832 HLA-DOA LSM2 NCR3 HLA-DMB HCG23 SNORD52 SLC39A7 LOC100507547 C6orf25 HLA-DQB1-AS1 PPT2 PPT2-EGFL8 WDR46 PRRC2A NEU1 HLA-DPB2 ATP6V1G2-DDX39B CYP21A1P NELFE HLA-DRB6 HCG24 FKBPL MSH5-SAPCD1 GPANK1 C6orf10 HSD17B8 MIR219A1 C4B DDX39B-AS1 TNF B3GALT4 VPS52 LTB ATP6V1G2 AGER LOC102725068 STK19 TNXA VARS HLA-DQA2 HSPA1L MSH5 LY6G6D LOC100287329 TAP1 HLA-DPA1 KIFC1 CLIC1 DXO HLA-DRB5 AIF1 MIR3135B ATF6B C2-AS1 PSMB9 NOTCH4 HCP5 HLA-DRB1 RNF5 EHMT2 C2 SNORD117 MIR6721 HCG25 HCG26 PPP1R2P1 LY6G5B MICB HLA-DQB2 MCCD1 MIR5004 BTNL2 HLA-DOB MIR6833 C6orf48 TNXB NFKBIL1 CSNK2B GPSM3 ZBTB9 MIR4646 LOC101929163 HLA-DQA1 LY6G5C EGFL8 CUTA SNORD84 SAPCD1-AS1 DDX39B C4A ZBTB22 SNORA38 SNORD48 CYP21A2 DDAH2 VWA7 BAG6 MIR6873 PSMB8-AS1 LY6G6C LY6G6F
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	MIR1236 ATP6V1G2 LOC102725068 STK19 TNXA LTA HSPA1B VARS HSPA1L LST1 MSH5 HSPA1A LY6G6D MIR6891 LOC100287329 C6orf47 LY6G6E CLIC1 DXO SKIV2L CFB AIF1 ABHD16A C2-AS1 HCP5 APOM EHMT2 C2 SNORD117 HCG26 SLC44A4 SAPCD1 LY6G5B MICB ZBTB12 MIR6832 MCCD1 LSM2 NCR3 C6orf48 TNXB NFKBIL1 CSNK2B SNORD52 C6orf25 MIR4646 PRRC2A LY6G5C NEU1 ATP6V1G2-DDX39B CYP21A1P NELFE HLA-B SNORD84 MSH5-SAPCD1 GPANK1 SAPCD1-AS1 DDX39B C4A SNORA38 SNORD48 C4B CYP21A2 DDX39B-AS1 TNF DDAH2 VWA7 BAG6 MICA LTB LY6G6C LY6G6F
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	RXRB MIR1236 BRD2 RGL2 COL11A2 TAPBP LTA HSPA1B LST1 RPS18 HSPA1A RING1 C6orf47 SYNGAP1 PSMB8 LY6G6E DAXX SKIV2L CFB PHF1 HLA-DQB1 LOC100294145 ABHD16A MIR6834 TAP2 HLA-DPB1 PRRT1 APOM HLA-DRA PBX2 PFDN6 HLA-DMA AGPAT1 SLC44A4 SAPCD1 ZBTB12 MIR6832 HLA-DOA LSM2 NCR3 HLA-DMB HCG23 SNORD52 SLC39A7 LOC100507547 C6orf25 HLA-DQB1-AS1 PPT2 PPT2-EGFL8 WDR46 PRRC2A NEU1 HLA-DPB2 ATP6V1G2-DDX39B CYP21A1P NELFE HLA-DRB6 HCG24 FKBPL MSH5-SAPCD1 GPANK1 C6orf10 HSD17B8 MIR219A1 C4B DDX39B-AS1 TNF B3GALT4 VPS52 LTB ATP6V1G2 AGER LOC102725068 STK19 TNXA VARS HLA-DQA2 HSPA1L MSH5 LY6G6D LOC100287329 TAP1 HLA-DPA1 KIFC1 CLIC1 DXO HLA-DRB5 AIF1 MIR3135B ATF6B C2-AS1 PSMB9 NOTCH4 HCP5 HLA-DRB1 RNF5 EHMT2 C2 SNORD117 MIR6721 HCG25 HCG26 PPP1R2P1 LY6G5B MICB HLA-DQB2 MCCD1 MIR5004 BTNL2 HLA-DOB MIR6833 C6orf48 TNXB NFKBIL1 CSNK2B GPSM3 ZBTB9 MIR4646 LOC101929163 HLA-DQA1 LY6G5C EGFL8 CUTA SNORD84 SAPCD1-AS1 DDX39B C4A ZBTB22 SNORA38 SNORD48 CYP21A2 DDAH2 VWA7 BAG6 MIR6873 PSMB8-AS1 LY6G6C LY6G6F
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	MIR1236 ATP6V1G2 AGER LOC102725068 STK19 TNXA LTA HSPA1B VARS HSPA1L LST1 MSH5 HSPA1A LY6G6D MIR6891 LOC100287329 C6orf47 LY6G6E CLIC1 DXO SKIV2L CFB AIF1 ATF6B ABHD16A C2-AS1 NOTCH4 HCP5 RNF5 PRRT1 APOM EHMT2 HLA-DRA PBX2 C2 SNORD117 MIR6721 AGPAT1 HCG26 SLC44A4 SAPCD1 LY6G5B MICB ZBTB12 MIR6832 MCCD1 LSM2 NCR3 HCG23 BTNL2 MIR6833 C6orf48 TNXB NFKBIL1 CSNK2B SNORD52 GPSM3 LOC100507547 C6orf25 MIR4646 LOC101929163 PPT2 PPT2-EGFL8 PRRC2A LY6G5C NEU1 ATP6V1G2-DDX39B CYP21A1P EGFL8 NELFE HLA-B SNORD84 FKBPL MSH5-SAPCD1 GPANK1 C6orf10 SAPCD1-AS1 DDX39B C4A SNORA38 SNORD48 C4B CYP21A2 DDX39B-AS1 TNF DDAH2 VWA7 BAG6 MICA LTB LY6G6C LY6G6F
nsv508399	Chr.6:31861697 - 31934646 on Build GRCh38	Deletion	EHMT2 ZBTB12 C2 C2-AS1 SLC44A4 NEU1

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