Hs04021911_cn

• Gene Symbol: C2CD4C
• Assay Reference Genome Location: Chr.19:408016 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 126567
• Gene Name: C2 calcium dependent domain containing 4C
• Gene Aliases: FAM148C, KIAA1957, NLF3
• Location: Chr.19:405435-409170 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C2CD4C	NM_001136263.1	2	551	NP_001129735.1
	XM_011527694.1	2	509	XP_011525996.1
	AB075837.1	2	551
	AL834341.1	1	299	CAD39008.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509712	Chr.19:391096 - 558643 on Build GRCh38	Insertion	ODF3L2 GZMM SHC2 CDC34 C2CD4C TPGS1 MADCAM1
dgv6155n54	Chr.19:404077 - 519032 on Build GRCh38	Loss	ODF3L2 SHC2 C2CD4C TPGS1 MADCAM1
nsv428360	Chr.19:232069 - 702131 on Build GRCh38	Gain	BSG THEG LOC101929060 GZMM RNF126 SHC2 PRSS57 FSTL3 MADCAM1 MIER2 HCN2 ODF3L2 FGF22 POLRMT CDC34 C2CD4C TPGS1 PLPP2
dgv6157n54	Chr.19:404439 - 411003 on Build GRCh38	Loss	C2CD4C
esv2671474	Chr.19:393636 - 481273 on Build GRCh38	Deletion	ODF3L2 SHC2 C2CD4C
nsv1065558	Chr.19:305266 - 441626 on Build GRCh38	Gain	THEG SHC2 C2CD4C MIER2
dgv6153n54	Chr.19:404026 - 423625 on Build GRCh38	Loss	SHC2 C2CD4C
nsv817810	Chr.19:388413 - 418178 on Build GRCh38	Loss	SHC2 C2CD4C
nsv577978	Chr.19:294526 - 782854 on Build GRCh38	Gain	BSG THEG LOC101929060 MISP GZMM RNF126 SHC2 PALM PRSS57 FSTL3 MADCAM1 MIER2 HCN2 ODF3L2 FGF22 LOC101928450 POLRMT CDC34 C2CD4C TPGS1
nsv953938	Chr.19:355801 - 1104501 on Build GRCh38	Deletion	BSG KISS1R THEG MED16 RNU6-2 LOC105372235 ARID3A GZMM ABCA7 PLPPR3 PALM FSTL3 MADCAM1 POLR2E CNN2 R3HDM4 TMEM259 MIR3187 HCN2 CDC34 C2CD4C PRTN3 RNU6-9 MISP GRIN3B RNF126 SHC2 ARHGAP45 PRSS57 ELANE GPX4 WDR18 AZU1 MIR4745 ODF3L2 FGF22 PTBP1 LOC101928450 POLRMT CFD TPGS1
nsv470101	Chr.19:401714 - 1008505 on Build GRCh38	Loss	BSG KISS1R MED16 LOC105372235 ARID3A GZMM PLPPR3 PALM FSTL3 MADCAM1 R3HDM4 MIR3187 HCN2 CDC34 C2CD4C PRTN3 RNU6-9 MISP GRIN3B RNF126 SHC2 PRSS57 ELANE WDR18 AZU1 MIR4745 ODF3L2 FGF22 PTBP1 LOC101928450 POLRMT CFD TPGS1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

vesicle fusion
regulation of calcium ion-dependent exocytosis
calcium ion-regulated exocytosis of neurotransmitter

Function(s)

calcium ion binding
calcium-dependent phospholipid binding
syntaxin binding
clathrin binding