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SPPL2A (signal peptide peptidase like 2A)

Identity

Alias (NCBI)IMP3
PSL2
HGNC (Hugo) SPPL2A
HGNC Alias symbIMP3
PSL2
HGNC Alias nameintramembrane protease 3
 presenilin-like protein 2
LocusID (NCBI) 84888
Atlas_Id 56771
Location 15q21.2  [Link to chromosome band 15q21]
Location_base_pair Starts at 50702268 and ends at 50765706 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)SPPL2A   30227
Cards
Entrez_Gene (NCBI)SPPL2A    signal peptide peptidase like 2A
AliasesIMP3; PSL2
GeneCards (Weizmann)SPPL2A
Ensembl hg19 (Hinxton)ENSG00000138600 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138600 [Gene_View]  ENSG00000138600 [Sequence]  chr15:50702268-50765706 [Contig_View]  SPPL2A [Vega]
ICGC DataPortalENSG00000138600
TCGA cBioPortalSPPL2A
AceView (NCBI)SPPL2A
Genatlas (Paris)SPPL2A
SOURCE (Princeton)SPPL2A
Genetics Home Reference (NIH)SPPL2A
Genomic and cartography
GoldenPath hg38 (UCSC)SPPL2A  -     chr15:50702268-50765706 -  15q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPPL2A  -     15q21.2   [Description]    (hg19-Feb_2009)
GoldenPathSPPL2A - 15q21.2 [CytoView hg19]  SPPL2A - 15q21.2 [CytoView hg38]
ImmunoBaseENSG00000138600
Genome Data Viewer NCBISPPL2A [Mapview hg19]  
OMIM608238   
Gene and transcription
Genbank (Entrez)AA988423 AJ345028 AJ420896 AK027446 AK075454
RefSeq transcript (Entrez)NM_032802
Consensus coding sequences : CCDS (NCBI)SPPL2A
Gene ExpressionSPPL2A [ NCBI-GEO ]   SPPL2A [ EBI - ARRAY_EXPRESS ]   SPPL2A [ SEEK ]   SPPL2A [ MEM ]
Gene Expression Viewer (FireBrowse)SPPL2A [ Firebrowse - Broad ]
GenevisibleExpression of SPPL2A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84888
GTEX Portal (Tissue expression)SPPL2A
Human Protein AtlasENSG00000138600-SPPL2A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TCT8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TCT8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TCT8
Catalytic activity : Enzyme3.4.23.- [ Enzyme-Expasy ]   3.4.23.-3.4.23.- [ IntEnz-EBI ]   3.4.23.- [ BRENDA ]   3.4.23.- [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ8TCT8
Domains : Interpro (EBI)PA_domain    Peptidase_A22B_SPP    Preselin/SPP   
Domain families : Pfam (Sanger)PA (PF02225)    Peptidase_A22B (PF04258)   
Domain families : Pfam (NCBI)pfam02225    pfam04258   
Domain families : Smart (EMBL)PSN (SM00730)  
Conserved Domain (NCBI)SPPL2A
SuperfamilyQ8TCT8
AlphaFold pdb e-kbQ8TCT8   
Human Protein Atlas [tissue]ENSG00000138600-SPPL2A [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q8TCT8
IntAct (EBI)Q8TCT8
BioGRIDSPPL2A
STRING (EMBL)SPPL2A
ZODIACSPPL2A
Ontologies - Pathways
QuickGOQ8TCT8
Ontology : AmiGOprotein binding  lysosomal membrane  lysosomal membrane  late endosome  plasma membrane  plasma membrane  membrane protein ectodomain proteolysis  regulation of tumor necrosis factor-mediated signaling pathway  membrane  Golgi-associated vesicle membrane  Golgi-associated vesicle membrane  membrane protein intracellular domain proteolysis  membrane protein intracellular domain proteolysis  late endosome membrane  membrane protein proteolysis  membrane protein proteolysis  aspartic endopeptidase activity, intramembrane cleaving  aspartic endopeptidase activity, intramembrane cleaving  protein homodimerization activity  intracellular membrane-bounded organelle  regulation of immune response  extracellular exosome  integral component of cytoplasmic side of endoplasmic reticulum membrane  integral component of cytoplasmic side of endoplasmic reticulum membrane  integral component of lumenal side of endoplasmic reticulum membrane  integral component of lumenal side of endoplasmic reticulum membrane  
Ontology : EGO-EBIprotein binding  lysosomal membrane  lysosomal membrane  late endosome  plasma membrane  plasma membrane  membrane protein ectodomain proteolysis  regulation of tumor necrosis factor-mediated signaling pathway  membrane  Golgi-associated vesicle membrane  Golgi-associated vesicle membrane  membrane protein intracellular domain proteolysis  membrane protein intracellular domain proteolysis  late endosome membrane  membrane protein proteolysis  membrane protein proteolysis  aspartic endopeptidase activity, intramembrane cleaving  aspartic endopeptidase activity, intramembrane cleaving  protein homodimerization activity  intracellular membrane-bounded organelle  regulation of immune response  extracellular exosome  integral component of cytoplasmic side of endoplasmic reticulum membrane  integral component of cytoplasmic side of endoplasmic reticulum membrane  integral component of lumenal side of endoplasmic reticulum membrane  integral component of lumenal side of endoplasmic reticulum membrane  
NDEx NetworkSPPL2A
Atlas of Cancer Signalling NetworkSPPL2A
Wikipedia pathwaysSPPL2A
Orthology - Evolution
OrthoDB84888
GeneTree (enSembl)ENSG00000138600
Phylogenetic Trees/Animal Genes : TreeFamSPPL2A
Homologs : HomoloGeneSPPL2A
Homology/Alignments : Family Browser (UCSC)SPPL2A
Gene fusions - Rearrangements
Fusion : QuiverSPPL2A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPPL2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPPL2A
dbVarSPPL2A
ClinVarSPPL2A
MonarchSPPL2A
1000_GenomesSPPL2A 
Exome Variant ServerSPPL2A
GNOMAD BrowserENSG00000138600
Varsome BrowserSPPL2A
ACMGSPPL2A variants
VarityQ8TCT8
Genomic Variants (DGV)SPPL2A [DGVbeta]
DECIPHERSPPL2A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPPL2A 
Mutations
ICGC Data PortalSPPL2A 
TCGA Data PortalSPPL2A 
Broad Tumor PortalSPPL2A
OASIS PortalSPPL2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPPL2A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPPL2A
Mutations and Diseases : HGMDSPPL2A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSPPL2A
DgiDB (Drug Gene Interaction Database)SPPL2A
DoCM (Curated mutations)SPPL2A
CIViC (Clinical Interpretations of Variants in Cancer)SPPL2A
Cancer3DSPPL2A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608238   
Orphanet
DisGeNETSPPL2A
MedgenSPPL2A
Genetic Testing Registry SPPL2A
NextProtQ8TCT8 [Medical]
GENETestsSPPL2A
Target ValidationSPPL2A
Huge Navigator SPPL2A [HugePedia]
ClinGenSPPL2A
Clinical trials, drugs, therapy
MyCancerGenomeSPPL2A
Protein Interactions : CTDSPPL2A
Pharm GKB GenePA166048995
PharosQ8TCT8
Clinical trialSPPL2A
Miscellaneous
canSAR (ICR)SPPL2A
HarmonizomeSPPL2A
DataMed IndexSPPL2A
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSPPL2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:32:58 CEST 2021

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