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SPPL2B (signal peptide peptidase like 2B)

Identity

Alias_symbol (synonym)IMP4
PSL1
KIAA1532
Other aliasIMP-4
PSH4
HGNC (Hugo) SPPL2B
LocusID (NCBI) 56928
Atlas_Id 46149
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 2328629 and ends at 2355100 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
JCHAIN (4q13.3) / SPPL2B (19p13.3)SPPL2B (19p13.3) / ELL2 (5q15)SPPL2B (19p13.3) / POLR2E (19p13.3)
SPPL2B (19p13.3) / SPPL2B (19p13.3)SPPL2B (19p13.3) / SUGP1 (19p13.11)

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)SPPL2B   30627
Cards
Entrez_Gene (NCBI)SPPL2B  56928  signal peptide peptidase like 2B
AliasesIMP-4; IMP4; PSH4; PSL1
GeneCards (Weizmann)SPPL2B
Ensembl hg19 (Hinxton)ENSG00000005206 [Gene_View]  chr19:2328629-2355100 [Contig_View]  SPPL2B [Vega]
Ensembl hg38 (Hinxton)ENSG00000005206 [Gene_View]  chr19:2328629-2355100 [Contig_View]  SPPL2B [Vega]
ICGC DataPortalENSG00000005206
TCGA cBioPortalSPPL2B
AceView (NCBI)SPPL2B
Genatlas (Paris)SPPL2B
WikiGenes56928
SOURCE (Princeton)SPPL2B
Genetics Home Reference (NIH)SPPL2B
Genomic and cartography
GoldenPath hg19 (UCSC)SPPL2B  -     chr19:2328629-2355100 +  19p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPPL2B  -     19p13.3   [Description]    (hg38-Dec_2013)
EnsemblSPPL2B - 19p13.3 [CytoView hg19]  SPPL2B - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBISPPL2B [Mapview hg19]  SPPL2B [Mapview hg38]
OMIM608239   
Gene and transcription
Genbank (Entrez)AB040965 AJ345027 AJ420897 AK226130 AK308973
RefSeq transcript (Entrez)NM_001077238 NM_152988
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_032984 NT_011295 NW_004929412
Consensus coding sequences : CCDS (NCBI)SPPL2B
Cluster EST : UnigeneHs.744026 [ NCBI ]
CGAP (NCI)Hs.744026
Alternative Splicing GalleryENSG00000005206
Gene ExpressionSPPL2B [ NCBI-GEO ]   SPPL2B [ EBI - ARRAY_EXPRESS ]   SPPL2B [ SEEK ]   SPPL2B [ MEM ]
Gene Expression Viewer (FireBrowse)SPPL2B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56928
GTEX Portal (Tissue expression)SPPL2B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TCT7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TCT7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TCT7
Splice isoforms : SwissVarQ8TCT7
Catalytic activity : Enzyme3.4.23.- [ Enzyme-Expasy ]   3.4.23.-3.4.23.- [ IntEnz-EBI ]   3.4.23.- [ BRENDA ]   3.4.23.- [ KEGG ]   
PhosPhoSitePlusQ8TCT7
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)SPPL2B
DMDM Disease mutations56928
Blocks (Seattle)SPPL2B
SuperfamilyQ8TCT7
Human Protein AtlasENSG00000005206
Peptide AtlasQ8TCT7
HPRD09743
IPIIPI00386494   IPI00304345   IPI00220530   IPI00398574   
Protein Interaction databases
DIP (DOE-UCLA)Q8TCT7
IntAct (EBI)Q8TCT7
FunCoupENSG00000005206
BioGRIDSPPL2B
STRING (EMBL)SPPL2B
ZODIACSPPL2B
Ontologies - Pathways
QuickGOQ8TCT7
Ontology : AmiGOprotein binding  nucleoplasm  lysosomal membrane  centrosome  plasma membrane  signal peptide processing  membrane protein ectodomain proteolysis  endosome membrane  actin cytoskeleton  membrane  Golgi-associated vesicle membrane  membrane protein intracellular domain proteolysis  membrane protein intracellular domain proteolysis  membrane protein proteolysis  aspartic endopeptidase activity, intramembrane cleaving  aspartic endopeptidase activity, intramembrane cleaving  aspartic endopeptidase activity, intramembrane cleaving  protein homodimerization activity  regulation of immune response  integral component of cytoplasmic side of endoplasmic reticulum membrane  integral component of lumenal side of endoplasmic reticulum membrane  
Ontology : EGO-EBIprotein binding  nucleoplasm  lysosomal membrane  centrosome  plasma membrane  signal peptide processing  membrane protein ectodomain proteolysis  endosome membrane  actin cytoskeleton  membrane  Golgi-associated vesicle membrane  membrane protein intracellular domain proteolysis  membrane protein intracellular domain proteolysis  membrane protein proteolysis  aspartic endopeptidase activity, intramembrane cleaving  aspartic endopeptidase activity, intramembrane cleaving  aspartic endopeptidase activity, intramembrane cleaving  protein homodimerization activity  regulation of immune response  integral component of cytoplasmic side of endoplasmic reticulum membrane  integral component of lumenal side of endoplasmic reticulum membrane  
NDEx NetworkSPPL2B
Atlas of Cancer Signalling NetworkSPPL2B
Wikipedia pathwaysSPPL2B
Orthology - Evolution
OrthoDB56928
GeneTree (enSembl)ENSG00000005206
Phylogenetic Trees/Animal Genes : TreeFamSPPL2B
HOVERGENQ8TCT7
HOGENOMQ8TCT7
Homologs : HomoloGeneSPPL2B
Homology/Alignments : Family Browser (UCSC)SPPL2B
Gene fusions - Rearrangements
Fusion : MitelmanSPPL2B/POLR2E [19p13.3/19p13.3]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPPL2B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPPL2B
dbVarSPPL2B
ClinVarSPPL2B
1000_GenomesSPPL2B 
Exome Variant ServerSPPL2B
ExAC (Exome Aggregation Consortium)SPPL2B (select the gene name)
Genetic variants : HAPMAP56928
Genomic Variants (DGV)SPPL2B [DGVbeta]
DECIPHER (Syndromes)19:2328629-2355100  ENSG00000005206
CONAN: Copy Number AnalysisSPPL2B 
Mutations
ICGC Data PortalSPPL2B 
TCGA Data PortalSPPL2B 
Broad Tumor PortalSPPL2B
OASIS PortalSPPL2B [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDSPPL2B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SPPL2B
DgiDB (Drug Gene Interaction Database)SPPL2B
DoCM (Curated mutations)SPPL2B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPPL2B (select a term)
intoGenSPPL2B
Cancer3DSPPL2B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608239   
Orphanet
MedgenSPPL2B
Genetic Testing Registry SPPL2B
NextProtQ8TCT7 [Medical]
TSGene56928
GENETestsSPPL2B
Huge Navigator SPPL2B [HugePedia]
snp3D : Map Gene to Disease56928
BioCentury BCIQSPPL2B
ClinGenSPPL2B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56928
Clinical trialSPPL2B
Miscellaneous
canSAR (ICR)SPPL2B (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPPL2B
EVEXSPPL2B
GoPubMedSPPL2B
iHOPSPPL2B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:20:42 CEST 2017

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