Hs04033973_cn

• Gene Symbol: C2CD4C
• Assay Reference Genome Location: Chr.19:407283 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	1284	NP_001129735.1
	XM_011527694.1	2	1242	XP_011525996.1
	AB075837.1	2	1284
	AL834341.1	1	1032	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	C2CD4C CDC34 ODF3L2 MADCAM1 TPGS1 GZMM SHC2
dgv6155n54	Chr.19:404077 - 519032 on Build GRCh38	Loss	C2CD4C ODF3L2 MADCAM1 TPGS1 SHC2
nsv428360	Chr.19:232069 - 702131 on Build GRCh38	Gain	C2CD4C POLRMT ODF3L2 MADCAM1 RNF126 THEG BSG GZMM SHC2 CDC34 PLPP2 MIER2 FSTL3 HCN2 LOC101929060 TPGS1 PRSS57 FGF22
dgv6157n54	Chr.19:404439 - 411003 on Build GRCh38	Loss	C2CD4C
esv2671474	Chr.19:393636 - 481273 on Build GRCh38	Deletion	C2CD4C ODF3L2 SHC2
nsv1065558	Chr.19:305266 - 441626 on Build GRCh38	Gain	C2CD4C MIER2 THEG SHC2
dgv6153n54	Chr.19:404026 - 423625 on Build GRCh38	Loss	C2CD4C SHC2
nsv817810	Chr.19:388413 - 418178 on Build GRCh38	Loss	C2CD4C SHC2
nsv577978	Chr.19:294526 - 782854 on Build GRCh38	Gain	C2CD4C POLRMT ODF3L2 MADCAM1 MISP PALM RNF126 THEG BSG GZMM SHC2 CDC34 LOC101928450 MIER2 FSTL3 HCN2 LOC101929060 TPGS1 PRSS57 FGF22
nsv953938	Chr.19:355801 - 1104501 on Build GRCh38	Deletion	CNN2 THEG MED16 BSG RNU6-2 POLR2E ARID3A PTBP1 GZMM LOC101928450 FSTL3 WDR18 R3HDM4 AZU1 GRIN3B TPGS1 MIR4745 C2CD4C POLRMT ODF3L2 MADCAM1 MISP PALM RNF126 ARHGAP45 ABCA7 MIR3187 TMEM259 RNU6-9 SHC2 LOC105372235 CDC34 PRTN3 GPX4 CFD HCN2 PLPPR3 ELANE KISS1R PRSS57 FGF22
nsv470101	Chr.19:401714 - 1008505 on Build GRCh38	Loss	MED16 BSG ARID3A PTBP1 GZMM LOC101928450 FSTL3 WDR18 R3HDM4 AZU1 GRIN3B TPGS1 MIR4745 C2CD4C POLRMT ODF3L2 MADCAM1 MISP PALM RNF126 MIR3187 RNU6-9 SHC2 LOC105372235 CDC34 PRTN3 CFD HCN2 PLPPR3 ELANE KISS1R PRSS57 FGF22

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