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Aliases for SPPL2B Gene

Aliases for SPPL2B Gene

  • Signal Peptide Peptidase Like 2B 2 3 5
  • Intramembrane Protease 4 2 3 4
  • Presenilin Homologous Protein 4 3 4
  • Presenilin-Like Protein 1 3 4
  • SPP-Like 2B 3 4
  • IMP-4 3 4
  • Imp4 3 4
  • PSH4 3 4
  • PSL1 3 4
  • Signal Peptide Peptidase-Like 2B 3
  • EC 3.4.23.- 4
  • KIAA1532 4
  • 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 TNF signaling (REACTOME) and Signaling by GPCR. GO annotations related to this gene include protein homodimerization activity and aspartic endopeptidase activity, intramembrane cleaving. An important paralog of this gene is SPPL2C.

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 (PubMed:16829952, PubMed:16829951, PubMed:17965014, PubMed:19114711, PubMed:22194595). 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 (PubMed:16829952, PubMed:16829951). May play a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus processed leader peptide gp18 of the envelope glycoprotein gp130 dependently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852).

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

Enhancers for SPPL2B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F002345 1 ENCODE 29.7 +17.4 17369 0.8 HDGF PKNOX1 ARNT CREB3L1 SIN3A YBX1 ZNF121 KLF13 MCM3 NCOA1 SPPL2B LSM7 GC19P002347 PIR56954
GH19F002326 1.5 FANTOM5 ENCODE 19.6 +2.3 2255 8.2 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 LSM7 SPPL2B REXO1 MKNK2 GNG7 CSNK1G2 PIR56954
GH19F002598 1.7 FANTOM5 Ensembl ENCODE 10.8 +270.7 270724 1.5 HDGF ATF1 PKNOX1 ZFP64 ARID4B SIN3A GLI4 FEZF1 DMAP1 ZNF2 RNU6-993P SLC39A3 C19orf35 LSM7 SPPL2B GADD45B DOT1L RN7SL121P ENSG00000267412
GH19F002393 1.5 FANTOM5 Ensembl ENCODE 7.5 +66.5 66487 3.0 MLX ARID4B DMAP1 ZNF48 YY1 SLC30A9 SP5 NFYC TBX21 PPARG TIMM13 TMPRSS9 SPPL2B DOT1L CSNK1G2 PIR50739 PIR39105
GH19F002601 1 Ensembl ENCODE 10.7 +274.2 274156 2.9 CTCF PKNOX1 TEAD4 SIN3A ZIC2 RAD21 YY1 ZNF121 ZNF157 ZNF366 RNU6-993P LSM7 SPPL2B ENSG00000267412 RN7SL121P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPPL2B on UCSC Golden Path with GeneCards custom track

Promoters for SPPL2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000139414 186 2401 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for SPPL2B Gene

Chromosome:
19
Start:
2,328,614 bp from pter
End:
2,355,102 bp from pter
Size:
26,489 bases
Orientation:
Plus strand

Genomic View for SPPL2B Gene

Genes around SPPL2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPPL2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:15998642, PubMed:16873890). Homodimer (PubMed:15998642, PubMed:16873890). Interacts with ITM2B (PubMed:17965014). Interacts with TNF (PubMed:16829951). Interacts with the simian foamy virus envelope glycoprotein gp130 and its processed leader peptide gp18LP; preferentially interacts with the leader peptide gp18LP (PubMed:23132852).
    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}; Sequence=CAB96951.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=CAB96951.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for SPPL2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPPL2B Gene

Post-translational modifications for SPPL2B Gene

No data available for DME Specific Peptides for SPPL2B Gene

Domains & Families 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 :
  • The PAL motif is required for normal active site conformation. 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.
  • Belongs to the peptidase A22B family.
Domain:
  • The PAL motif is required for normal active site conformation. 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 (PubMed:16829952, PubMed:16829951, PubMed:17965014, PubMed:19114711, PubMed:22194595). 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 (PubMed:16829952, PubMed:16829951). May play a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus processed leader peptide gp18 of the envelope glycoprotein gp130 dependently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852).

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 IEA --
GO:0005515 protein binding IPI 2313285
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0042500 NOT aspartic endopeptidase activity, intramembrane cleaving IEA,IMP 16873890
genes like me logo Genes that share ontologies with SPPL2B: view
genes like me logo Genes that share phenotypes with SPPL2B: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPPL2B Gene

Localization for SPPL2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPPL2B Gene

Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein; Lumenal side. Note=targeted through the entire secretory pathway to endosomes/lysosomes (PubMed:15998642). {ECO:0000269 PubMed:15998642}.

Gene Ontology (GO) - Cellular Components for SPPL2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005654 nucleoplasm IDA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA,IDA 15998642
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with SPPL2B: view

No data available for Subcellular locations from COMPARTMENTS for SPPL2B Gene

Pathways & Interactions for SPPL2B Gene

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

Pathways by source for SPPL2B Gene

Interacting Proteins for SPPL2B Gene

Gene Ontology (GO) - Biological Process for SPPL2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006465 signal peptide processing IBA --
GO:0006508 proteolysis IEA --
GO:0006509 membrane protein ectodomain proteolysis IDA 16829951
GO:0031293 membrane protein intracellular domain proteolysis IEA,IMP 16829952
GO:0033619 membrane protein proteolysis IDA 2313285
genes like me logo Genes that share ontologies with SPPL2B: view

No data available for SIGNOR curated interactions for SPPL2B Gene

Transcripts for SPPL2B Gene

Unigene Clusters for SPPL2B Gene

Signal peptide peptidase like 2B:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for SPPL2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPPL2B Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SPPL2B Gene



Protein tissue co-expression partners for SPPL2B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPPL2B Gene:

SPPL2B

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 expression patterns with SPPL2B: view

Primer Products

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 34
  • 94.26 (n)
dog
(Canis familiaris)
Mammalia SPPL2B 34
  • 84.81 (n)
cow
(Bos Taurus)
Mammalia SPPL2B 34
  • 84.46 (n)
mouse
(Mus musculus)
Mammalia Sppl2b 34 16
  • 80.22 (n)
rat
(Rattus norvegicus)
Mammalia Sppl2b 34
  • 79.58 (n)
chicken
(Gallus gallus)
Aves SPPL2B 34
  • 71.31 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia sppl2b 34
  • 67.41 (n)
Str.16021 34
African clawed frog
(Xenopus laevis)
Amphibia MGC69113 34
zebrafish
(Danio rerio)
Actinopterygii sppl2 34
  • 70.5 (n)
worm
(Caenorhabditis elegans)
Secernentea C36B1.12 36
  • 31 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SPPL3 34
  • 45.87 (n)
rice
(Oryza sativa)
Liliopsida Os01g0914700 34
  • 49.46 (n)
Species where no ortholog for SPPL2B was found in the sources mined by GeneCards:
  • 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

Paralogs for SPPL2B Gene

(2) SIMAP similar genes for SPPL2B Gene using alignment to 1 proteins:

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

Variants for SPPL2B Gene

Sequence variations from dbSNP and Humsavar for SPPL2B Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1008920 -- 2,337,827(+) CTGTT(C/T)TTCCT intron-variant, upstream-variant-2KB
rs1008921 -- 2,337,838(+) GAGCT(G/T)CTGGC intron-variant, upstream-variant-2KB
rs1008922 -- 2,340,391(-) ACCCT(C/T)CCCCC intron-variant
rs10402284 -- 2,353,150(+) CTGAA(C/T)CCGAG nc-transcript-variant, downstream-variant-500B, reference, missense, utr-variant-3-prime
rs10402757 -- 2,353,374(+) CGGTC(C/T)GTGCC nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv956608 CNV deletion 24416366
nsv953944 CNV deletion 24416366
nsv833707 CNV loss 17160897
nsv1160562 CNV deletion 26073780
nsv1118801 CNV deletion 24896259
nsv1072303 CNV deletion 25765185
esv987545 CNV deletion 20482838
esv3643422 CNV gain 21293372
esv3555857 CNV deletion 23714750
esv2717890 CNV deletion 23290073
esv2717889 CNV deletion 23290073
esv2717888 CNV deletion 23290073
esv2717887 CNV deletion 23290073
esv2717886 CNV deletion 23290073
esv2717885 CNV deletion 23290073
esv2717883 CNV deletion 23290073
esv2674747 CNV deletion 23128226
esv2534504 CNV deletion 19546169
esv2385804 CNV deletion 18987734
esv22825 CNV loss 19812545
esv1603035 CNV insertion 17803354
esv1566250 CNV deletion 17803354
esv1114382 CNV insertion 17803354
esv1110117 CNV deletion 17803354
dgv6218n54 CNV loss 21841781
dgv1974e59 CNV duplication 20981092
dgv1973e59 CNV duplication 20981092
dgv1972e59 CNV duplication 20981092

Relevant External Links for SPPL2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPPL2B

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

Disorders for SPPL2B Gene

Relevant External Links for SPPL2B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPPL2B

No disorders were found for SPPL2B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPPL2B Gene

Publications for SPPL2B Gene

  1. Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b. (PMID: 17965014) Martin L. … Haass C. (J. Biol. Chem. 2008) 3 4 22 64
  2. 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 22 64
  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 64
  4. The alpha-helical content of the transmembrane domain of the British dementia protein-2 (Bri2) determines its processing by signal peptide peptidase-like 2b (SPPL2b). (PMID: 22194595) Fluhrer R. … Haass C. (J. Biol. Chem. 2012) 3 4 64
  5. Substrate requirements for SPPL2b-dependent regulated intramembrane proteolysis. (PMID: 19114711) Martin L. … Haass C. (J. Biol. Chem. 2009) 3 4 64

Products for SPPL2B Gene

Sources for SPPL2B Gene

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