Hs02164125_cn

• Gene Symbol: CRACR2B
• Assay Reference Genome Location: Chr.11:827629 on build GRCh38
• Cytoband: 11p15.5

Target Gene Details

• Entrez Gene ID: 283229
• Gene Name: calcium release activated channel regulator 2B
• Gene Aliases: EFCAB4A
• Location: Chr.11:825558-831991 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CRACR2B	XM_017017582.1			XP_016873071.1
	XM_017017583.1			XP_016873072.1
	XM_017017584.1			XP_016873073.1
	XM_017017585.1			XP_016873074.1
	XM_017017586.1			XP_016873075.1
	XM_017017587.1			XP_016873076.1
	XM_017017588.1			XP_016873077.1
	XM_017017590.1			XP_016873079.1
	XM_017017591.1			XP_016873080.1
	XM_017017592.1			XP_016873081.1
	XM_017017593.1			XP_016873082.1
	XM_017017594.1			XP_016873083.1
	XM_017017595.1			XP_016873084.1
	XM_017017599.1	1	157	XP_016873088.1
	AK304093.1
	BC073821.1			AAH73821.1
	DB161031.1	1	45

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv1013n100	Chr.11:772982 - 933569 on Build GRCh38	Gain	CD151 SNORA52 PNPLA2 TSPAN4 AP2A2 RPLP2 CRACR2B PDDC1 PIDD1 LOC171391 CEND1 POLR2L SLC25A22 PANO1 CHID1
esv2759794	Chr.11:409846 - 1336162 on Build GRCh38	Loss	RASSF7 SNORA52 MIR6744 LRRC56 PHRF1 ANO9 CDHR5 RPLP2 CRACR2B MUC5AC LOC101927503 PIDD1 TOLLIP-AS1 PTDSS2 CEND1 SLC25A22 LOC143666 CHID1 DRD4 MIR210HG MUC5B CD151 SIGIRR LOC101059906 PNPLA2 IRF7 TSPAN4 TMEM80 AP2A2 TALDO1 DEAF1 MUC2 RNH1 PDDC1 LOC171391 MUC6 MIR210 LMNTD2 POLR2L SCT TOLLIP HRAS PANO1 EPS8L2
dgv182e199	Chr.11:349830 - 943372 on Build GRCh38	Deletion	RASSF7 SNORA52 LRRC56 PHRF1 ANO9 CDHR5 RPLP2 CRACR2B PIDD1 PTDSS2 CEND1 SLC25A22 LOC143666 CHID1 DRD4 MIR210HG CD151 SIGIRR LOC101059906 B4GALNT4 PNPLA2 IRF7 TSPAN4 PKP3 TMEM80 AP2A2 TALDO1 DEAF1 RNH1 PDDC1 LOC171391 MIR210 LMNTD2 POLR2L SCT HRAS PANO1 EPS8L2
nsv482154	Chr.11:827585 - 831991 on Build GRCh38	Gain	CRACR2B
nsv8759	Chr.11:775539 - 835248 on Build GRCh38	Gain	PIDD1 CD151 LOC171391 SNORA52 CEND1 PNPLA2 SLC25A22 PANO1 RPLP2 CRACR2B PDDC1
nsv1159791	Chr.11:461793 - 909492 on Build GRCh38	Deletion	RASSF7 SNORA52 LRRC56 PHRF1 CDHR5 RPLP2 CRACR2B PIDD1 PTDSS2 CEND1 SLC25A22 LOC143666 CHID1 DRD4 MIR210HG CD151 LOC101059906 PNPLA2 IRF7 TSPAN4 TMEM80 TALDO1 DEAF1 RNH1 PDDC1 LOC171391 MIR210 LMNTD2 POLR2L SCT HRAS PANO1 EPS8L2
nsv552871	Chr.11:766479 - 870446 on Build GRCh38	Loss	CD151 SNORA52 PNPLA2 TSPAN4 RPLP2 CRACR2B PDDC1 PIDD1 LOC171391 CEND1 POLR2L SLC25A22 PANO1 CHID1
nsv469923	Chr.11:378188 - 1302334 on Build GRCh38	Loss	RASSF7 SNORA52 MIR6744 LRRC56 PHRF1 ANO9 CDHR5 RPLP2 CRACR2B MUC5AC LOC101927503 PIDD1 PTDSS2 CEND1 SLC25A22 LOC143666 CHID1 DRD4 MIR210HG MUC5B CD151 SIGIRR LOC101059906 B4GALNT4 PNPLA2 IRF7 TSPAN4 PKP3 TMEM80 AP2A2 TALDO1 DEAF1 MUC2 RNH1 PDDC1 LOC171391 MUC6 MIR210 LMNTD2 POLR2L SCT TOLLIP HRAS PANO1 EPS8L2
dgv1526n54	Chr.11:812533 - 843713 on Build GRCh38	Gain	CD151 PNPLA2 POLR2L TSPAN4 RPLP2 CRACR2B
nsv552874	Chr.11:823590 - 843713 on Build GRCh38	Gain	CD151 PNPLA2 POLR2L TSPAN4 CRACR2B
nsv832044	Chr.11:809019 - 938308 on Build GRCh38	Loss	PIDD1 CD151 SNORA52 PNPLA2 POLR2L TSPAN4 CHID1 AP2A2 RPLP2 CRACR2B
nsv1040044	Chr.11:776335 - 900929 on Build GRCh38	Gain+Loss	CD151 SNORA52 PNPLA2 TSPAN4 RPLP2 CRACR2B PDDC1 PIDD1 LOC171391 CEND1 POLR2L SLC25A22 PANO1 CHID1
nsv1048774	Chr.11:816471 - 900929 on Build GRCh38	Gain	CD151 PNPLA2 POLR2L TSPAN4 CHID1 CRACR2B
nsv951272	Chr.11:751201 - 911500 on Build GRCh38	Deletion	CD151 SNORA52 PNPLA2 TSPAN4 TALDO1 RPLP2 CRACR2B PDDC1 PIDD1 LOC171391 CEND1 POLR2L SLC25A22 PANO1 CHID1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

store-operated calcium entry
cellular protein localization
regulation of store-operated calcium entry

Function(s)

calcium ion binding
protein binding