Hs04315956_cn

• Gene Symbol: C2
• Assay Reference Genome Location: Chr.6:31924723 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	LOC101929163 PRRT1 DXO STK19 HSPA1B LOC100507547 PPT2-EGFL8 HSPA1A HLA-DQB1 MIR1236 HLA-DQA1 PPT2 PBX2 SKIV2L GPSM3 ATF6B SLC44A4 HLA-DRB5 SNORD48 MIR6833 MIR6721 EHMT2 HCG23 C2-AS1 HLA-DRB1 NOTCH4 C4A CFB TNXB HLA-DRB6 C4B AGER EGFL8 BTNL2 C6orf48 HLA-DQB1-AS1 RNF5 HLA-DRA NELFE FKBPL AGPAT1 CYP21A1P NEU1 TNXA C2 C6orf10 CYP21A2 ZBTB12 SNORD52
esv2759415	Chr.6:31903735 - 32241336 on Build GRCh38	Gain+Loss	MIR6721 PRRT1 DXO STK19 C2-AS1 LOC100507547 PPT2-EGFL8 NOTCH4 C4A CFB TNXB MIR1236 C4B AGER EGFL8 PPT2 PBX2 RNF5 NELFE SKIV2L FKBPL GPSM3 AGPAT1 CYP21A1P ATF6B TNXA C2 CYP21A2 MIR6833
nsv601960	Chr.6:31870664 - 31939370 on Build GRCh38	Loss	C2-AS1 SLC44A4 C2 ZBTB12 EHMT2
nsv1126749	Chr.6:31457323 - 32594423 on Build GRCh38	Deletion	LOC101929163 LY6G6C SAPCD1-AS1 AIF1 MSH5-SAPCD1 PRRT1 LY6G5B DXO LOC100287329 STK19 HSPA1B CLIC1 LOC100507547 PPT2-EGFL8 SNORD117 C6orf25 LY6G6D APOM HSPA1A MIR1236 SNORD84 C6orf47 BAG6 DDAH2 PPT2 PBX2 PRRC2A SKIV2L GPSM3 DDX39B ATF6B ATP6V1G2 LY6G6E SLC44A4 HLA-DRB5 LSM2 HCP5 SNORD48 LY6G6F MIR4646 MICB MIR6833 MIR6721 ABHD16A LTA EHMT2 VARS HCG23 NCR3 SNORA38 C2-AS1 HLA-DRB1 LTB NOTCH4 C4A CFB TNXB HLA-DRB6 LOC102725068 C4B AGER SAPCD1 LST1 LY6G5C TNF MIR6832 EGFL8 HSPA1L BTNL2 C6orf48 RNF5 HLA-DRA DDX39B-AS1 ATP6V1G2-DDX39B NELFE GPANK1 VWA7 FKBPL AGPAT1 CSNK2B HCG26 NFKBIL1 CYP21A1P NEU1 TNXA MSH5 C2 C6orf10 CYP21A2 ZBTB12 SNORD52 MCCD1
nsv1073969	Chr.6:31456422 - 33480523 on Build GRCh38	Deletion	LOC101929163 KIFC1 SAPCD1-AS1 AIF1 PRRT1 PHF1 LOC100287329 STK19 LOC100507547 PPT2-EGFL8 SNORD117 HSPA1A MIR1236 VPS52 SNORD84 C6orf47 BAG6 B3GALT4 PFDN6 PBX2 PRRC2A GPSM3 HLA-DQB2 RGL2 HSD17B8 ATF6B ATP6V1G2 LY6G6E SLC44A4 LSM2 HCP5 SNORD48 MICB SYNGAP1 BRD2 MIR6721 ABHD16A LTA VARS SNORA38 C2-AS1 LTB NOTCH4 CFB ZBTB9 TNXB HLA-DRB6 AGER SAPCD1 LST1 HCG25 WDR46 HSPA1L BTNL2 C6orf48 HLA-DQB1-AS1 HCG24 HLA-DRA DDX39B-AS1 ATP6V1G2-DDX39B NELFE FKBPL HCG26 NFKBIL1 CYP21A1P DAXX NEU1 RPS18 C6orf10 HLA-DMA ZBTB12 SNORD52 TAPBP LY6G6C HLA-DMB MSH5-SAPCD1 SLC39A7 HLA-DPB1 LOC100294145 LY6G5B DXO PSMB9 HSPA1B RING1 CLIC1 C6orf25 LY6G6D APOM TAP2 HLA-DQB1 HLA-DOB HLA-DQA1 DDAH2 PPT2 HLA-DQA2 MIR6873 SKIV2L DDX39B HLA-DOA HLA-DRB5 PPP1R2P1 PSMB8 MIR5004 LY6G6F MIR4646 RXRB MIR6833 EHMT2 HCG23 NCR3 HLA-DPA1 HLA-DRB1 C4A COL11A2 MIR219A1 LOC102725068 C4B MIR6834 LY6G5C TNF MIR6832 EGFL8 CUTA RNF5 GPANK1 VWA7 ZBTB22 AGPAT1 CSNK2B MIR3135B TNXA TAP1 MSH5 HLA-DPB2 C2 CYP21A2 PSMB8-AS1 MCCD1
dgv10403n54	Chr.6:31312324 - 32049763 on Build GRCh38	Loss	LY6G6C SAPCD1-AS1 AIF1 MSH5-SAPCD1 LY6G5B DXO LOC100287329 STK19 HSPA1B CLIC1 SNORD117 C6orf25 LY6G6D APOM HSPA1A MIR1236 SNORD84 C6orf47 BAG6 DDAH2 PRRC2A SKIV2L DDX39B MIR6891 HLA-B ATP6V1G2 LY6G6E SLC44A4 LSM2 HCP5 SNORD48 LY6G6F MIR4646 MICB ABHD16A LTA EHMT2 VARS NCR3 SNORA38 C2-AS1 MICA LTB C4A CFB TNXB LOC102725068 C4B SAPCD1 LST1 LY6G5C TNF MIR6832 HSPA1L C6orf48 DDX39B-AS1 ATP6V1G2-DDX39B NELFE GPANK1 VWA7 CSNK2B HCG26 NFKBIL1 CYP21A1P NEU1 TNXA MSH5 C2 CYP21A2 ZBTB12 SNORD52 MCCD1
nsv830628	Chr.6:31919777 - 31979823 on Build GRCh38	Loss	C2-AS1 CFB C2 MIR1236 NELFE SKIV2L DXO STK19
nsv1112900	Chr.6:31455323 - 33480423 on Build GRCh38	Deletion	LOC101929163 KIFC1 SAPCD1-AS1 AIF1 PRRT1 PHF1 LOC100287329 STK19 LOC100507547 PPT2-EGFL8 SNORD117 HSPA1A MIR1236 VPS52 SNORD84 C6orf47 BAG6 B3GALT4 PFDN6 PBX2 PRRC2A GPSM3 HLA-DQB2 RGL2 HSD17B8 ATF6B ATP6V1G2 LY6G6E SLC44A4 LSM2 HCP5 SNORD48 MICB SYNGAP1 BRD2 MIR6721 ABHD16A LTA VARS SNORA38 C2-AS1 LTB NOTCH4 CFB ZBTB9 TNXB HLA-DRB6 AGER SAPCD1 LST1 HCG25 WDR46 HSPA1L BTNL2 C6orf48 HLA-DQB1-AS1 HCG24 HLA-DRA DDX39B-AS1 ATP6V1G2-DDX39B NELFE FKBPL HCG26 NFKBIL1 CYP21A1P DAXX NEU1 RPS18 C6orf10 HLA-DMA ZBTB12 SNORD52 TAPBP LY6G6C HLA-DMB MSH5-SAPCD1 SLC39A7 HLA-DPB1 LOC100294145 LY6G5B DXO PSMB9 HSPA1B RING1 CLIC1 C6orf25 LY6G6D APOM TAP2 HLA-DQB1 HLA-DOB HLA-DQA1 DDAH2 PPT2 HLA-DQA2 MIR6873 SKIV2L DDX39B HLA-DOA HLA-DRB5 PPP1R2P1 PSMB8 MIR5004 LY6G6F MIR4646 RXRB MIR6833 EHMT2 HCG23 NCR3 HLA-DPA1 HLA-DRB1 C4A COL11A2 MIR219A1 LOC102725068 C4B MIR6834 LY6G5C TNF MIR6832 EGFL8 CUTA RNF5 GPANK1 VWA7 ZBTB22 AGPAT1 CSNK2B MIR3135B TNXA TAP1 MSH5 HLA-DPB2 C2 CYP21A2 PSMB8-AS1 MCCD1
dgv10404n54	Chr.6:31312550 - 32516591 on Build GRCh38	Loss	LOC101929163 LY6G6C SAPCD1-AS1 AIF1 MSH5-SAPCD1 PRRT1 LY6G5B DXO LOC100287329 STK19 HSPA1B CLIC1 LOC100507547 PPT2-EGFL8 SNORD117 C6orf25 LY6G6D APOM HSPA1A MIR1236 SNORD84 C6orf47 BAG6 DDAH2 PPT2 PBX2 PRRC2A SKIV2L GPSM3 DDX39B MIR6891 HLA-B ATF6B ATP6V1G2 LY6G6E SLC44A4 LSM2 HCP5 SNORD48 LY6G6F MIR4646 MICB MIR6833 MIR6721 ABHD16A LTA EHMT2 VARS HCG23 NCR3 SNORA38 C2-AS1 MICA LTB NOTCH4 C4A CFB TNXB LOC102725068 C4B AGER SAPCD1 LST1 LY6G5C TNF MIR6832 EGFL8 HSPA1L BTNL2 C6orf48 RNF5 HLA-DRA DDX39B-AS1 ATP6V1G2-DDX39B NELFE GPANK1 VWA7 FKBPL AGPAT1 CSNK2B HCG26 NFKBIL1 CYP21A1P NEU1 TNXA MSH5 C2 C6orf10 CYP21A2 ZBTB12 SNORD52 MCCD1
nsv508399	Chr.6:31861697 - 31934646 on Build GRCh38	Deletion	C2-AS1 SLC44A4 NEU1 C2 ZBTB12 EHMT2

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