Hs03799427_cn

• Gene Symbol: TPCN2
• Assay Reference Genome Location: Chr.11:69057189 on build GRCh38
• Cytoband: 11q13.3

Target Gene Details

• Entrez Gene ID: 219931
• Gene Name: two pore segment channel 2
• Gene Aliases: SHEP10, TPC2
• Location: Chr.11:69048876-69090604 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TPCN2	NM_139075.3			NP_620714.2
	XM_005273824.3			XP_005273881.1
	XM_005273826.3			XP_005273883.1
	XM_005273830.3			XP_005273887.1
	XM_005273831.3			XP_005273888.1
	XM_005273832.3			XP_005273889.1
	XM_011544802.2			XP_011543104.1
	XM_011544805.1			XP_011543107.1
	XM_011544806.1			XP_011543108.1
	XM_011544807.2			XP_011543109.1
	XM_011544808.2			XP_011543110.1
	XM_017017328.1			XP_016872817.1
	XM_017017329.1			XP_016872818.1
	XM_017017330.1			XP_016872819.1
	XM_017017331.1			XP_016872820.1
	XM_017017332.1			XP_016872821.1
	XM_017017333.1			XP_016872822.1
	XM_017017334.1			XP_016872823.1
	XM_017017335.1			XP_016872824.1
	XM_017017336.1			XP_016872825.1
	AB209253.1			BAD92490.1
	AK023366.1
	AK123089.1
	AK298919.1
	AY029200.1			AAK31802.1
	BC063008.1			AAH63008.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv468620	Chr.11:69037338 - 69088127 on Build GRCh38	Loss	TPCN2 MIR3164
nsv555301	Chr.11:69053408 - 69093190 on Build GRCh38	Loss	TPCN2 MIR3164
nsv469967	Chr.11:69036983 - 69132346 on Build GRCh38	Loss	TPCN2 MIR3164
nsv832196	Chr.11:68995114 - 69165820 on Build GRCh38	Loss	MRGPRF-AS1 TPCN2 LOC338694 MIR3164 MRGPRF
nsv825970	Chr.11:69015999 - 69088972 on Build GRCh38	Gain	MRGPRF-AS1 TPCN2 MIR3164

More Information

Additional Information:

For this assay, SNP(s) [rs73514482] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ion channel, transporter

Gene Ontology Categories:

Process(es)

cellular calcium ion homeostasis
smooth muscle contraction
lysosome organization
regulation of autophagy
calcium-mediated signaling
response to vitamin D
ion transmembrane transport
regulation of ion transmembrane transport
release of sequestered calcium ion into cytosol
membrane depolarization during action potential

Function(s)

voltage-gated calcium channel activity
protein binding
protein kinase binding
identical protein binding
NAADP-sensitive calcium-release channel activity