Hs04027770_cn

• Gene Symbol: C2CD4C
• Assay Reference Genome Location: Chr.19:407624 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	943	NP_001129735.1
	XM_011527694.1	2	901	XP_011525996.1
	AB075837.1	2	943
	AL834341.1	1	691	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	TPGS1 GZMM CDC34 ODF3L2 MADCAM1 SHC2 C2CD4C
dgv6155n54	Chr.19:404077 - 519032 on Build GRCh38	Loss	TPGS1 ODF3L2 MADCAM1 SHC2 C2CD4C
nsv428360	Chr.19:232069 - 702131 on Build GRCh38	Gain	RNF126 MIER2 FSTL3 TPGS1 PRSS57 LOC101929060 ODF3L2 POLRMT BSG HCN2 SHC2 THEG GZMM CDC34 MADCAM1 PLPP2 C2CD4C FGF22
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	MIER2 THEG SHC2 C2CD4C
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	MISP RNF126 MIER2 FSTL3 LOC101928450 TPGS1 PRSS57 LOC101929060 ODF3L2 POLRMT BSG HCN2 SHC2 THEG GZMM CDC34 MADCAM1 C2CD4C FGF22 PALM
nsv953938	Chr.19:355801 - 1104501 on Build GRCh38	Deletion	RNF126 ABCA7 RNU6-2 PRTN3 FSTL3 LOC101928450 GRIN3B ODF3L2 PTBP1 POLR2E GPX4 BSG SHC2 CFD WDR18 THEG R3HDM4 MED16 ELANE AZU1 MIR4745 KISS1R RNU6-9 C2CD4C FGF22 MISP MIR3187 TPGS1 PRSS57 POLRMT HCN2 PLPPR3 ARHGAP45 ARID3A GZMM CDC34 CNN2 TMEM259 LOC105372235 MADCAM1 PALM
nsv470101	Chr.19:401714 - 1008505 on Build GRCh38	Loss	RNF126 PRTN3 FSTL3 LOC101928450 GRIN3B ODF3L2 PTBP1 BSG SHC2 CFD WDR18 R3HDM4 MED16 ELANE AZU1 MIR4745 KISS1R RNU6-9 C2CD4C FGF22 MISP MIR3187 TPGS1 PRSS57 POLRMT HCN2 PLPPR3 ARID3A GZMM CDC34 LOC105372235 MADCAM1 PALM

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