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Aliases for SPPL2B Gene

Aliases for SPPL2B Gene

  • Signal Peptide Peptidase Like 2B 2 3
  • Intramembrane Protease 4 2 3 4
  • Imp4 3 4 6
  • Presenilin Homologous Protein 4 3 4
  • Presenilin-Like Protein 1 3 4
  • SPP-Like 2B 3 4
  • KIAA1532 4 6
  • IMP-4 3 4
  • PSH4 3 4
  • PSL1 3 4
  • Signal Peptide Peptidase-Like 2B 3
  • EC 3.4.23.- 4
  • SNPPL2B 6
  • SPPL2b 4

External Ids for SPPL2B Gene

Previous GeneCards Identifiers for SPPL2B Gene

  • GC19P002391
  • GC19P002268
  • GC19P002279
  • GC19P002099

Summaries for SPPL2B Gene

Entrez Gene Summary for SPPL2B Gene

  • This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SPPL2B Gene

SPPL2B (Signal Peptide Peptidase Like 2B) is a Protein Coding gene. Among its related pathways are Ribosome biogenesis in eukaryotes. GO annotations related to this gene include protein homodimerization activity and aspartic endopeptidase activity, intramembrane cleaving.

UniProtKB/Swiss-Prot for SPPL2B Gene

  • Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in ITM2B and TNF processing. Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus. May play a role in the regulation of innate and adaptive immunity.

Gene Wiki entry for SPPL2B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPPL2B Gene

Genomics for SPPL2B Gene

Regulatory Elements for SPPL2B Gene

Genomic Location for SPPL2B Gene

Start:
2,328,615 bp from pter
End:
2,355,102 bp from pter
Size:
26,488 bases
Orientation:
Plus strand

Genomic View for SPPL2B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPPL2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPPL2B Gene

Proteins for SPPL2B Gene

  • Protein details for SPPL2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TCT7-SPP2B_HUMAN
    Recommended name:
    Signal peptide peptidase-like 2B
    Protein Accession:
    Q8TCT7
    Secondary Accessions:
    • D6W609
    • O60365
    • Q567S3
    • Q8IUH9
    • Q9BUY6
    • Q9H3M4
    • Q9NPN2
    • Q9P1Z6

    Protein attributes for SPPL2B Gene

    Size:
    592 amino acids
    Molecular mass:
    64644 Da
    Quaternary structure:
    • Monomer. Homodimer. Interacts with ITM2B and TNF.
    SequenceCaution:
    • Sequence=AAC05601.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAG45441.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA96056.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SPPL2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPPL2B Gene

Proteomics data for SPPL2B Gene at MOPED

Post-translational modifications for SPPL2B Gene

No data available for DME Specific Peptides for SPPL2B Gene

Domains for SPPL2B Gene

Protein Domains for SPPL2B Gene

Suggested Antigen Peptide Sequences for SPPL2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TCT7

UniProtKB/Swiss-Prot:

SPP2B_HUMAN :
  • Q8TCT7
Domain:
  • The PAL motif is required for normal active site conformation (By similarity). The catalytic domains embedded in the membrane are in the opposite orientation to that of the presenilin protein family; therefore, it is predicted to cleave type II-oriented substrate peptides like the prototypic protease SPP.
  • Contains 1 PA (protease associated) domain.
Family:
  • Belongs to the peptidase A22B family.
genes like me logo Genes that share domains with SPPL2B: view

No data available for Gene Families for SPPL2B Gene

Function for SPPL2B Gene

Molecular function for SPPL2B Gene

UniProtKB/Swiss-Prot Function: Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in ITM2B and TNF processing. Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF-alpha (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus. May play a role in the regulation of innate and adaptive immunity.

Enzyme Numbers (IUBMB) for SPPL2B Gene

Gene Ontology (GO) - Molecular Function for SPPL2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004190 aspartic-type endopeptidase activity --
GO:0005515 protein binding IPI 17965014
GO:0042500 NOT aspartic endopeptidase activity, intramembrane cleaving IMP 16873890
GO:0042803 protein homodimerization activity IDA 15385547
genes like me logo Genes that share ontologies with SPPL2B: view

Phenotypes for SPPL2B Gene

GenomeRNAi human phenotypes for SPPL2B:
genes like me logo Genes that share phenotypes with SPPL2B: view

miRNA for SPPL2B Gene

miRTarBase miRNAs that target SPPL2B

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for SPPL2B Gene

Localization for SPPL2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPPL2B Gene

Golgi apparatus membrane; Multi-pass membrane protein. Note=targeted through the entire secretory pathway to endosomes/lysosomes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPPL2B Gene COMPARTMENTS Subcellular localization image for SPPL2B gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
golgi apparatus 5
lysosome 5
plasma membrane 5
vacuole 5

Gene Ontology (GO) - Cellular Components for SPPL2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 15998642
GO:0005886 plasma membrane IDA 16829952
GO:0010008 endosome membrane IDA 15998642
GO:0016021 integral component of membrane --
GO:0030660 Golgi-associated vesicle membrane IDA 17965014
genes like me logo Genes that share ontologies with SPPL2B: view

Pathways for SPPL2B Gene

genes like me logo Genes that share pathways with SPPL2B: view

Pathways by source for SPPL2B Gene

1 KEGG pathway for SPPL2B Gene

Interacting Proteins for SPPL2B Gene

Selected Interacting proteins: Q8TCT7-SPP2B_HUMAN for SPPL2B Gene via I2D

Symbol External ID(s) Details
PACSIN1

Gene Ontology (GO) - Biological Process for SPPL2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006509 membrane protein ectodomain proteolysis IDA 16829951
GO:0031293 membrane protein intracellular domain proteolysis IMP 16829952
GO:0050776 regulation of immune response IMP 16829952
genes like me logo Genes that share ontologies with SPPL2B: view

Transcripts for SPPL2B Gene

Unigene Clusters for SPPL2B Gene

Signal peptide peptidase like 2B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPPL2B Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a ·
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - -
SP5:
SP6: -
SP7: - - -
SP8: -
SP9:
SP10: -

ExUns: 17b · 17c ^ 18a · 18b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for SPPL2B Gene

GeneLoc Exon Structure for
SPPL2B
ECgene alternative splicing isoforms for
SPPL2B

Expression for SPPL2B Gene

mRNA expression in normal human tissues for SPPL2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SPPL2B Gene

SOURCE GeneReport for Unigene cluster for SPPL2B Gene Hs.744026

mRNA Expression by UniProt/SwissProt for SPPL2B Gene

Q8TCT7-SPP2B_HUMAN
Tissue specificity: Expressed predominantly in adrenal cortex and mammary gland.
genes like me logo Genes that share expressions with SPPL2B: view

No data available for mRNA differential expression in normal tissues for SPPL2B Gene

Orthologs for SPPL2B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SPPL2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPPL2B 35
  • 94.26 (n)
  • 92.79 (a)
cow
(Bos Taurus)
Mammalia SPPL2B 35
  • 84.46 (n)
  • 85.37 (a)
dog
(Canis familiaris)
Mammalia SPPL2B 35
  • 84.81 (n)
  • 84.81 (a)
mouse
(Mus musculus)
Mammalia Sppl2b 35
  • 80.22 (n)
  • 79.68 (a)
Sppl2b 16
rat
(Rattus norvegicus)
Mammalia Sppl2b 35
  • 79.58 (n)
  • 78.74 (a)
chicken
(Gallus gallus)
Aves SPPL2B 35
  • 71.31 (n)
  • 79.74 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC69113 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sppl2b 35
  • 67.41 (n)
  • 74.44 (a)
Str.16021 35
zebrafish
(Danio rerio)
Actinopterygii sppl2 35
  • 70.5 (n)
  • 74.33 (a)
worm
(Caenorhabditis elegans)
Secernentea C36B1.12 37
  • 31 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SPPL3 35
  • 45.87 (n)
  • 37.61 (a)
rice
(Oryza sativa)
Liliopsida Os01g0914700 35
  • 49.46 (n)
  • 37.59 (a)
Species with no ortholog for SPPL2B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPPL2B Gene

ENSEMBL:
Gene Tree for SPPL2B (if available)
TreeFam:
Gene Tree for SPPL2B (if available)

Paralogs for SPPL2B Gene

Selected SIMAP similar genes for SPPL2B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SPPL2B: view

No data available for Paralogs for SPPL2B Gene

Variants for SPPL2B Gene

Sequence variations from dbSNP and Humsavar for SPPL2B Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs3210 -- 2,341,676(-) TGGCT(C/G)CAATA intron-variant
rs11671 -- 2,354,789(-) AAGCT(C/G)TGTTT utr-variant-3-prime
rs758094 -- 2,337,921(+) CACAC(C/T)CTCTG intron-variant
rs917338 -- 2,336,841(+) tgtgt(A/G)tgtgt intron-variant
rs917339 -- 2,336,935(+) tgtgc(C/T)gtgtg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPPL2B Gene

Variant ID Type Subtype PubMed ID
dgv3614n71 CNV Loss 21882294
dgv3622n71 CNV Loss 21882294
nsv910623 CNV Loss 21882294
dgv3630n71 CNV Loss 21882294
dgv3631n71 CNV Loss 21882294
nsv833707 CNV Loss 17160897
nsv910643 CNV Loss 21882294
dgv3635n71 CNV Loss 21882294
nsv910650 CNV Gain 21882294
nsv910651 CNV Loss 21882294
nsv910652 CNV Loss 21882294
esv2717883 CNV Deletion 23290073
esv2717885 CNV Deletion 23290073
esv2717886 CNV Deletion 23290073
esv2717887 CNV Deletion 23290073
esv22825 CNV Loss 19812545
esv2717888 CNV Deletion 23290073
esv987545 CNV Deletion 20482838
esv2385804 CNV Deletion 18987734
esv1110117 CNV Deletion 17803354
esv1566250 CNV Deletion 17803354
esv2717889 CNV Deletion 23290073
esv2674747 CNV Deletion 23128226
esv2717890 CNV Deletion 23290073
esv1603035 CNV Insertion 17803354
esv1114382 CNV Insertion 17803354
esv2534504 CNV Deletion 19546169

Relevant External Links for SPPL2B Gene

HapMap Linkage Disequilibrium report
SPPL2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPPL2B Gene

Disorders for SPPL2B Gene

No disorders were found for SPPL2B Gene.

No data available for UniProtKB/Swiss-Prot for SPPL2B Gene

Publications for SPPL2B Gene

  1. Intramembrane proteolytic cleavage by human signal peptide peptidase like 3 and malaria signal peptide peptidase. (PMID: 16873890) Nyborg A.C. … Golde T.E. (FASEB J. 2006) 3 4 23
  2. Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b. (PMID: 17965014) Martin L. … Haass C. (J. Biol. Chem. 2008) 3 4 23
  3. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  4. Novel class of polytopic proteins with domains associated with putative protease activity. (PMID: 12139484) Grigorenko A.P. … Rogaev E.I. (Biokhimiia 2002) 3 4
  5. Intramembrane proteolysis of GXGD-type aspartyl proteases is slowed by a familial Alzheimer disease-like mutation. (PMID: 18768471) Fluhrer R. … Haass C. (J. Biol. Chem. 2008) 3 23

Products for SPPL2B Gene

  • antibodies-online peptides for SPPL2B
  • antibodies-online antibodies for SPPL2B
  • antibodies-online kits for SPPL2B

Sources for SPPL2B Gene

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