Aliases for SPPL2A Gene
Aliases for SPPL2A Gene
External Ids for SPPL2A Gene
- HGNC: 30227
- Entrez Gene: 84888
- Ensembl: ENSG00000138600
- OMIM: 608238
- UniProtKB: Q8TCT8
Previous GeneCards Identifiers for SPPL2A Gene
- GC15M046557
- GC15M044045
- GC15M048578
- GC15M048715
- GC15M048787
- GC15M050999
- GC15M027830
Summaries for SPPL2A Gene
-
This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]
GeneCards Summary for SPPL2A Gene
SPPL2A (Signal Peptide Peptidase Like 2A) 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-type endopeptidase activity. An important paralog of this gene is SPPL2B.
UniProtKB/Swiss-Prot for SPPL2A Gene
-
Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in FASLG, ITM2B and TNF processing (PubMed:16829952, PubMed:16829951, PubMed:17557115, PubMed:17965014). 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). Also responsible for the intramembrane cleavage of Fas antigen ligand FASLG, which promotes the release of the intracellular FasL domain (FasL ICD) (PubMed:17557115). May play a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus envelope glycoprotein gp130 independently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852).
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPPL2A Gene
Genomics for SPPL2A Gene
Regulatory Elements for SPPL2A Gene
Enhancers for SPPL2A Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around SPPL2A on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for SPPL2A Gene
- Chromosome:
- 15
- Start:
- 50,702,266 bp from pter
- End:
- 50,766,158 bp from pter
- Size:
- 63,893 bases
- Orientation:
- Minus strand
Genomic View for SPPL2A Gene
Genes around SPPL2A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q21.2 by Ensembl
- 15q21.2 by Entrez Gene
- 15q21.2 by HGNC
SPPL2A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SPPL2A Gene
Proteins for SPPL2A Gene
-
Protein details for SPPL2A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TCT8-SPP2A_HUMAN
- Recommended name:
- Signal peptide peptidase-like 2A
- Protein Accession:
- Q8TCT8
- B2RDS0
- Q8TAW1
- Q96SZ8
Protein attributes for SPPL2A Gene
- Size:
- 520 amino acids
- Molecular mass:
- 58143 Da
- Quaternary structure:
-
- Interacts with ITM2B (PubMed:17965014).
- SequenceCaution:
-
- Sequence=BAB55117.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD13133.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for SPPL2A Gene
Post-translational modifications for SPPL2A Gene
- Glycosylated.
- Glycosylation at Asn 58, Asn 66, Asn 74, Asn 116, Asn 126, Asn 149, and Asn 155
- Modification sites at PhosphoSitePlus
Other Protein References for SPPL2A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for SPPL2A
-
Custom Antibody ServicesOriGene Antibodies for SPPL2A
- Novus Biologicals Antibodies for SPPL2A
-
Abcam antibodies for SPPL2A
- Invitrogen Antibodies for SPPL2A
- antibodies-online Antibodies for SPPL2A: See all 20
- Search GeneTex for Antibodies for SPPL2A
-
Santa Cruz Biotechnology (SCBT) Antibodies for SPPL2A
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SPPL2A
- Origene Custom Protein Services for SPPL2A
- Novus Biologicals proteins for SPPL2A
- antibodies-online Proteins for SPPL2A: See all 6
- Search antibodies-online for peptides
- Search GeneTex for Proteins for SPPL2A
-
Abcam proteins for SPPL2A
Assay Products
- antibodies-online Kits for SPPL2A: See all 5
No data available for DME Specific Peptides for SPPL2A Gene
Domains & Families for SPPL2A Gene
Protein Domains for SPPL2A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SPPL2A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8TCT8UniProtKB/Swiss-Prot:
SPP2A_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. The C-terminal tail is necessary for lysosomal transport.
- 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. The C-terminal tail is necessary for lysosomal transport.
- Contains 1 PA (protease associated) domain.
- Family:
-
- Belongs to the peptidase A22B family.
No data available for Gene Families for SPPL2A Gene
Function for SPPL2A Gene
Molecular function for SPPL2A 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 FASLG, ITM2B and TNF processing (PubMed:16829952, PubMed:16829951, PubMed:17557115, PubMed:17965014). 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). Also responsible for the intramembrane cleavage of Fas antigen ligand FASLG, which promotes the release of the intracellular FasL domain (FasL ICD) (PubMed:17557115). May play a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus envelope glycoprotein gp130 independently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852).
Enzyme Numbers (IUBMB) for SPPL2A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0042500 | aspartic endopeptidase activity, intramembrane cleaving | IEA,IDA | 2313285 |
| GO:0042803 | protein homodimerization activity | IDA | 15385547 |
Phenotypes for SPPL2A Gene
- MGI mutant phenotypes for SPPL2A:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for SPPL2A:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SPPL2A
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SPPL2A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SPPL2A gene
- Search ViGene Biosciences for SPPL2A
CRISPR Products
-
OriGene CRISPR knockouts for SPPL2A
- GenScript: Design CRISPR guide RNA sequences for SPPL2A
miRNA for SPPL2A Gene
- miRTarBase miRNAs that target SPPL2A
-
- hsa-mir-5580-3p (MIRT398430)
- hsa-mir-4724-5p (MIRT467243)
- hsa-mir-6807-5p (MIRT467244)
- hsa-mir-921 (MIRT467245)
- hsa-mir-142-3p (MIRT467246)
- hsa-mir-6073 (MIRT467247)
- hsa-mir-650 (MIRT467248)
- hsa-mir-3612 (MIRT467249)
- hsa-mir-873-5p (MIRT467250)
- hsa-mir-2467-3p (MIRT467251)
- hsa-mir-6086 (MIRT467252)
- hsa-mir-377-5p (MIRT467253)
- hsa-mir-1827 (MIRT467254)
- hsa-mir-4649-3p (MIRT467255)
- hsa-mir-665 (MIRT467256)
- hsa-mir-4257 (MIRT467257)
- hsa-mir-3174 (MIRT467258)
- hsa-mir-940 (MIRT467259)
- hsa-mir-6893-5p (MIRT467260)
- hsa-mir-6808-5p (MIRT467261)
- hsa-mir-6511a-5p (MIRT467262)
- hsa-mir-1910-3p (MIRT467263)
- hsa-mir-4695-5p (MIRT467264)
- hsa-mir-4697-3p (MIRT500975)
- hsa-mir-3655 (MIRT500976)
- hsa-mir-5590-3p (MIRT500977)
- hsa-mir-16-1-3p (MIRT500978)
- hsa-mir-142-5p (MIRT500979)
- hsa-mir-1278 (MIRT500980)
- hsa-mir-580-5p (MIRT500981)
- hsa-mir-8054 (MIRT500982)
- hsa-mir-548l (MIRT500983)
- hsa-mir-548k (MIRT500984)
- hsa-mir-548av-5p (MIRT500985)
- hsa-mir-559 (MIRT500986)
- hsa-mir-548y (MIRT500987)
- hsa-mir-548w (MIRT500988)
- hsa-mir-548o-5p (MIRT500989)
- hsa-mir-548j-5p (MIRT500990)
- hsa-mir-548i (MIRT500991)
- hsa-mir-548h-5p (MIRT500992)
- hsa-mir-548d-5p (MIRT500993)
- hsa-mir-548c-5p (MIRT500994)
- hsa-mir-548bb-5p (MIRT500995)
- hsa-mir-548b-5p (MIRT500996)
- hsa-mir-548ay-5p (MIRT500997)
- hsa-mir-548au-5p (MIRT500998)
- hsa-mir-548as-5p (MIRT500999)
- hsa-mir-548ar-5p (MIRT501000)
- hsa-mir-548aq-5p (MIRT501001)
- hsa-mir-548ap-5p (MIRT501002)
- hsa-mir-548am-5p (MIRT501003)
- hsa-mir-548ak (MIRT501004)
- hsa-mir-548ae-5p (MIRT501005)
- hsa-mir-548ad-5p (MIRT501006)
- hsa-mir-548ab (MIRT501007)
- hsa-mir-548a-5p (MIRT501008)
- hsa-mir-223-3p (MIRT501009)
- hsa-mir-96-5p (MIRT501010)
- hsa-mir-183-5p (MIRT501011)
- hsa-mir-1271-5p (MIRT501012)
- hsa-mir-1277-5p (MIRT510707)
- hsa-mir-190a-3p (MIRT510708)
- hsa-mir-5011-5p (MIRT510709)
- hsa-mir-1273e (MIRT520966)
- hsa-mir-4785 (MIRT520967)
- hsa-mir-219b-3p (MIRT520968)
- hsa-mir-5739 (MIRT520969)
- hsa-mir-5091 (MIRT520970)
- hsa-mir-1247-3p (MIRT520971)
- hsa-mir-4433a-3p (MIRT520972)
- hsa-mir-4459 (MIRT520973)
- hsa-mir-4768-3p (MIRT520974)
- hsa-mir-302f (MIRT520975)
- hsa-mir-937-5p (MIRT554009)
- hsa-mir-5702 (MIRT554010)
- hsa-mir-3178 (MIRT632033)
- hsa-mir-24-3p (MIRT632034)
- hsa-mir-4743-5p (MIRT632035)
- hsa-mir-6499-5p (MIRT632036)
- hsa-mir-7977 (MIRT673832)
- hsa-mir-4284 (MIRT673833)
- hsa-mir-548f-3p (MIRT673834)
- hsa-mir-548e-3p (MIRT673835)
- hsa-mir-548az-3p (MIRT673836)
- hsa-mir-548ar-3p (MIRT673837)
- hsa-mir-548a-3p (MIRT673838)
- hsa-mir-3674 (MIRT698907)
- hsa-mir-642b-3p (MIRT698908)
- hsa-mir-642a-3p (MIRT698909)
- hsa-mir-138-2-3p (MIRT698910)
- hsa-mir-4528 (MIRT698911)
- hsa-mir-425-5p (MIRT698912)
- hsa-mir-551b-5p (MIRT698913)
- hsa-mir-5007-3p (MIRT707562)
- hsa-mir-5000-5p (MIRT707563)
miRNA Products
- Search ViGene Biosciences for SPPL2A
Clone Products
- Sino Biological Human cDNA Clone for SPPL2A
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SPPL2A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPPL2A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for SPPL2A
-
ViGene Biosciences adenoviral particle packaged cDNA for SPPL2A gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SPPL2A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SPPL2A gene
Flow Cytometry Products
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPPL2A Gene
Localization for SPPL2A Gene
Subcellular locations from UniProtKB/Swiss-Prot for SPPL2A Gene
- Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein; Lumenal side. Note=Colocalizes with palmitoylated and myristoylated proteins at the plasma membrane.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| endosome | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005764 | lysosome | IEA | -- |
| GO:0005765 | lysosomal membrane | IEA,IDA | 17897319 |
| GO:0005768 | endosome | IEA | -- |
| GO:0005770 | late endosome | IDA | 16829952 |
| GO:0005886 | plasma membrane | IDA | -- |
Pathways & Interactions for SPPL2A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | TNF signaling (REACTOME) |
.86
|
|
| 2 | Signaling by GPCR | ||
Pathways by source for SPPL2A Gene
4 Reactome pathways for SPPL2A Gene
Interacting Proteins for SPPL2A Gene
Selected Interacting proteins:
Q8TCT8-SPP2A_HUMAN
ENSP00000261854
for SPPL2A Gene via
IID
UniProtKB
STRING
MINT
| 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 |
No data available for SIGNOR curated interactions for SPPL2A Gene
Transcripts for SPPL2A Gene
mRNA/cDNA for SPPL2A Gene
- (4) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (73) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SPPL2A Gene
CRISPR Products
-
OriGene CRISPR knockouts for SPPL2A
- GenScript: Design CRISPR guide RNA sequences for SPPL2A
miRNA Products
- Search ViGene Biosciences for SPPL2A
Clone Products
- Sino Biological Human cDNA Clone for SPPL2A
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SPPL2A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SPPL2A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||
| SP4: |
Expression for SPPL2A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Intestine (Gastrointestinal Tract)
-
Colon (Gastrointestinal Tract)
-
Gall Bladder (Hepatobiliary System)
-
Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for SPPL2A Gene
This gene is overexpressed in Muscle - Skeletal (x4.8).
This gene is overexpressed in Nasal epithelium (42.6), Serum (8.8), and Monocytes (7.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPPL2A Gene
NURSA nuclear receptor signaling pathways regulating expression of SPPL2A Gene:
SPPL2ASOURCE GeneReport for Unigene cluster for SPPL2A Gene:
Hs.401537mRNA Expression by UniProt/SwissProt for SPPL2A Gene:
Q8TCT8-SPP2A_HUMAN
Tissue specificity:
Ubiquitous.
Primer Products
-
OriGene qPCR primer pairs and template standards for SPPL2A
-
OriGene qPCR primer pairs for SPPL2A
No data available for Protein tissue co-expression partners for SPPL2A Gene
Orthologs for SPPL2A Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SPPL2A 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | SPPL2A 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | SPPL2A 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Sppl2a 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Sppl2a 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SPPL2A 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SPPL2A 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SPPL2A 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SPPL2A 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sppl2a 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:123258 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | imp-1 34 35 |
|
||
| C36B1.12 36 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 35 |
|
OneToMany | |
| rice (Oryza sativa) |
Liliopsida | Os11g0433200 34 |
|
- Species where no ortholog for SPPL2A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- 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)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for SPPL2A Gene
(2) SIMAP similar genes for SPPL2A Gene using alignment to 3 proteins:
Pseudogenes.org Pseudogenes for SPPL2A Gene
Variants for SPPL2A Gene
| SNP ID | Clin | Chr 15 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs10152230 | -- | 50,741,360(+) | AAAAT(A/T)AAAAA | intron-variant | |
| rs10152232 | -- | 50,741,439(+) | CCTGA(A/T)ACTCC | intron-variant | |
| rs10152686 | -- | 50,761,136(+) | TCCCA(A/C)GTAGC | intron-variant | |
| rs10162884 | -- | 50,742,950(+) | atagg(C/G)cagct | intron-variant | |
| rs10163189 | -- | 50,744,458(+) | CAAAT(A/G)TATTT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv569402 | CNV | loss | 21841781 |
| nsv569398 | CNV | loss | 21841781 |
| nsv471242 | CNV | gain | 18288195 |
| nsv457137 | CNV | loss | 19166990 |
| nsv1051400 | CNV | gain | 25217958 |
| nsv1047443 | CNV | gain | 25217958 |
| nsv1044320 | CNV | loss | 25217958 |
| nsv1043273 | CNV | loss | 25217958 |
| esv3636449 | CNV | loss | 21293372 |
| esv2659888 | CNV | deletion | 23128226 |
| esv2609237 | CNV | deletion | 19546169 |
| dgv4526n54 | CNV | gain | 21841781 |
| dgv4525n54 | CNV | gain | 21841781 |
| dgv317n27 | CNV | gain | 19166990 |
| dgv2594n100 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.01;
60.26% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for SPPL2A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SPPL2A
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPPL2A Gene
Disorders for SPPL2A Gene
Relevant External Links for SPPL2A
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- SPPL2A
No disorders were found for SPPL2A Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPPL2A Gene
Publications for SPPL2A Gene
- 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
- The Fas ligand intracellular domain is released by ADAM10 and SPPL2a cleavage in T-cells. (PMID: 17557115) Kirkin V. … Zornig M. (Cell Death Differ. 2007) 3 4 22 64
- Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins. (PMID: 15385547) Friedmann E. … Martoglio B. (J. Biol. Chem. 2004) 3 4 22 64
- Identification of signal peptide peptidase, a presenilin-type aspartic protease. (PMID: 12077416) Weihofen A. … Martoglio B. (Science 2002) 2 3 4 64
- Novel class of polytopic proteins with domains associated with putative protease activity. (PMID: 12139484) Grigorenko A.P. … Rogaev E.I. (Biokhimiia 2002) 2 3 4 64
Products for SPPL2A Gene
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- Custom Antibody ServicesOriGene Antibodies for SPPL2A
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- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SPPL2A
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- GenScript: Next-day shipping cDNA clones in your preferred vector
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- GenScript: Design CRISPR guide RNA sequences for SPPL2A
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- CloneReady with Over 120,000 Genes
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- antibodies-online Antibodies for SPPL2A: See all 20
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- ViGene Biosciences adenoviral particle packaged cDNA for SPPL2A gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for SPPL2A
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- Horizon Cell Lines for SPPL2A
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- VectorBuilder custom plasmid, inducible vectors for SPPL2A
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for SPPL2A Gene
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