Hs07004700_cn

• Gene Symbol: SPPL3
• Assay Reference Genome Location: Chr.12:120788526 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 121665
• Gene Name: signal peptide peptidase like 3
• Gene Aliases: IMP2, MDHV1887, PRO4332, PSH1, PSL4
• Location: Chr.12:120762510-120904352 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPPL3	NM_139015.4			NP_620584.2
	XM_011537925.2			XP_011536227.1
	AB252457.1
	AJ345030.1			CAC87791.1
	AJ420898.1			CAD13135.1
	AK074916.1			BAC11290.1
	AK223590.1			BAD97310.1
	AK291161.1
	AY169313.1			AAO12538.1
	BC073910.1			AAH73910.1
	BC101625.1			AAI01626.1
	BC101627.1			AAI01628.1
	BU932077.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521928	Chr.12:120603925 - 121356945 on Build GRCh38	Gain	P2RX4 ACADS HNF1A-AS1 P2RX7 CAMKK2 OASL HNF1A ANAPC5 MLEC MIR4700 UNC119B SPPL3 CABP1 C12orf43 XLOC_009911
nsv560438	Chr.12:120756762 - 120914403 on Build GRCh38	Gain	SPPL3 XLOC_009911

More Information

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

Panther Classification:

Molecular Function -

aspartic protease

Gene Ontology Categories:

Process(es)

signal peptide processing
membrane protein ectodomain proteolysis
positive regulation of cytosolic calcium ion concentration
positive regulation of protein binding
membrane protein proteolysis
positive regulation of protein dephosphorylation
T cell receptor signaling pathway
positive regulation of NFAT protein import into nucleus
positive regulation of calcineurin-NFAT signaling cascade

Function(s)

protein binding
aspartic endopeptidase activity, intramembrane cleaving
protein homodimerization activity