Hs04008120_cn

• Gene Symbol: C2CD4C
• Assay Reference Genome Location: Chr.19:408730 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C2CD4C	NM_001136263.1			NP_001129735.1
	XM_011527694.1			XP_011525996.1
	AB075837.1

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

More Information

• Set Membership: Intragenic, Intronic, Non-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