SPPL2C Gene
protein-coding GIFtS: 39
GCID: GC17P043923
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|
signal peptide peptidase like 2C
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Aliases
for SPPL2C gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Signal Peptide Peptidase Like 2C1 2 | | SPP-Like 2C2 3 | | IMP51 2 3 5 | | Signal Peptide Peptidase-Like 2C2 | | Intramembrane Protease 52 3 | | EC 3.4.23.-3 | | IMP-52 3 | | SPPL2c3 |
Export aliases for SPPL2C gene to outside databases |
Summaries
for SPPL2C gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: SPP2C_HUMAN, Q8IUH8Function: Intramembrane-cleaving aspartic protease (I-CLiP) that may be able to cleave type II membrane signal peptidesin the hydrophobic plane of the membrane (By similarity)
|
Genomic Views
for SPPL2C gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15 NT_167251.1
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for SPPL2C
Other transcription factors
Search SABiosciences Chromatin IP Primers for SPPL2C
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPPL2C |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q21.31 Ensembl cytogenetic band: 17q21.31 HGNC cytogenetic band: 17q21.31SPPL2C Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P043923: view genomic region
(about GC identifiers)
Start:
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43,922,256 bp from pter |
End:
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43,924,438 bp from pter |
Size:
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2,183 bases |
Orientation:
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plus strand |
1 alternative location:
| Chr17-,ALT_REF_LOCI_9 44,251,935-44,254,117 |
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Proteins
for SPPL2C gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SPP2C_HUMAN, Q8IUH8 (See
protein sequence)Recommended Name: Signal peptide peptidase-like 2C precursor Size: 684 amino acids; 74503 Da
Subcellular location: Membrane; Multi-pass membrane protein (Probable). Endoplasmic reticulum membrane; Multi-passmembrane protein
Secondary accessions: Q8TC67 Q8WVZ6Explore the universe of human proteins at neXtProt for SPPL2C: NX_Q8IUH8
Post-translational modifications:
Glycosylated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8IUH8
SPPL2C Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_787078.2
ENSEMBL proteins: ENSP00000332488
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
SPPL2C for ontologies About GeneDecksing
SPPL2C Antibody Products:
Assay Products for SPPL2C: |
Protein
Domains /
Families
for SPPL2C gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SPPL2C for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8IUH8ProtoNet protein and cluster: Q8IUH8 UniProtKB/Swiss-Prot: SPP2C_HUMAN, Q8IUH8Domain: The PAL motif is required for normal active site conformation (By similarity). The catalytic domains embeddedin the membrane are in the opposite orientation to that of the presenilin protein family; therefore, it is predictedto cleave type II-oriented substrate peptides like the prototypic protease SPPSimilarity: Belongs to the peptidase A22B familySimilarity: Contains 1 PA (protease associated) domain |
Function
for SPPL2C gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SPP2C_HUMAN, Q8IUH8Function: Intramembrane-cleaving aspartic protease (I-CLiP) that may be able to cleave type II membrane signal peptidesin the hydrophobic plane of the membrane (By similarity)Enzyme Number (IUBMB): EC 3.4.23.-1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPPL2C (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPPL2C
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for SPPL2C | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPPL2C | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPPL2C |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPPL2C |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004190 | aspartic-type endopeptidase activity |
IEA | -- | | GO:0042803 | protein homodimerization activity |
IDA | 15385547 |
SPPL2C for ontologies About GeneDecksing
|
Pathways & Interactions
for SPPL2C gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPPL2C
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
4 Interacting proteins for SPPL2C (ENSP000003324884) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006509 | NOT membrane protein ectodomain proteolysis |
IMP | 17965014 | | GO:0031293 | NOT membrane protein intracellular domain proteolysis |
IMP | 16829952 |
SPPL2C for ontologies About GeneDecksing
|
Drugs & Compounds
for SPPL2C gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for SPPL2C
Search CenterWatch for drugs/clinical trials and news about SPPL2C / SPP2C
|
Transcripts
for SPPL2C gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SPPL2C gene: NM_175882.2 Unigene Cluster for SPPL2C: Signal peptide peptidase like 2C Hs.144491 [show with all ESTs]Unigene Representative Sequence: BC0220411 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000329196(uc010wka.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPPL2C (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPPL2C
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for SPPL2C | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPPL2C | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPPL2C |
Additional cDNA sequence: BC022041.1 BC025401.1 3 DOTS entries: DT.92042901 DT.424946 DT.95152351 23 AceView cDNA sequences: AI207001 NM_175882 AI825668 AI017554 BC022041 AI657114 AI214733 AW196531 BI460639 AI381573 AI653035 CD171865 BG721091 BI830418 BC025401 AI971700 AW182232 BI821684 AA351014 BG723713 BI461717 BI459203 BF510785
GeneLoc Exon Structure
|
Expression
for SPPL2C gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SPPL2C expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAACAAGAA
About this image
See SPPL2C Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPPL2C
SOURCE GeneReport for Unigene cluster: Hs.144491
UniProtKB/Swiss-Prot: SPP2C_HUMAN, Q8IUH8Tissue specificity: Ubiquitous
SABiosciences Custom PCR Arrays for SPPL2C
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPPL2C
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat SPPL2C | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPPL2C | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPPL2C | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPPL2C |
Orthologs
for SPPL2C gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for SPPL2C gene from 6/20 species (see all 20) About this table
ENSEMBL Gene Tree for SPPL2C (if available)
TreeFam Gene Tree for SPPL2C (if available) |
Paralogs
for SPPL2C gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SPPL2C gene
- HM132 SPPL2A2 SPPL32
2 SIMAP similar genes for SPPL2C using alignment to 1 protein entry: SPP2C_HUMAN:SPPL2A SPPL2B
SPPL2C for paralogs About GeneDecksing
|
Genomic Variants
for SPPL2C gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SPPL2C (43922256 - 43924438 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SPPL2C: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPPL2C |
|
Disorders
/ Diseases
for SPPL2C gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SPPL2C for disorders About GeneDecksing
OMIM gene information: 608284
OMIM disorders: --
4  diseases for SPPL2C: About MalaCardssupranuclear palsy progressive supranuclear palsy parkinson's disease malaria
Export disorders for SPPL2C gene to outside databases
|
Publications
for SPPL2C gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SPPL2C gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with SPPL2C) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Novel class of polytopic proteins with domains associated with putative protease activity. (PubMed id 12139484)1, 2, 3 Grigorenko A.P.... Rogaev E.I. (2002)
- SPPL2a and SPPL2b promote intramembrane proteolysis of TNFalpha in activated dendritic cells to trigger IL-12 production. (PubMed id 16829952)1, 2 Friedmann E....Martoglio B. (2006)
- Consensus analysis of signal peptide peptidase and homologous human aspartic proteases reveals opposite topology of catalytic domains compared with presenilins. (PubMed id 15385547)1, 2 Friedmann E.... Martoglio B. (2004)
- Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b. (PubMed id 17965014)1, 9 Martin L....Haass C. (2008)
- Six novel susceptibility Loci for early-onset androgen etic alopecia and their unexpected association with common diseases. (PubMed id 22693459)1 Li R....Richards J.B. (2012)
- Web-based genome-wide association study identifies tw o novel loci and a substantial genetic component for Parkinson's disease. (PubMed id 21738487)1 Do C.B....Eriksson N. (2011)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
- High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. (PubMed id 16415175)1 Park J.W....Beaty T.H. (2006)
- Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. (PubMed id 15293277)1 Pastor P....Goate A.M. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
|
External Searches for SPPL2C gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SPPL2C gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SPPL2C gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SPPL2C gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
About This Section
| Patent Information for SPPL2C gene:
Search GeneIP for patents involving SPPL2C
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SPPL2C gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for SPPL2C | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPPL2C | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SPPL2C | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SPPL2C | | OriGene 3'-UTR Clone for SPPL2C | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPPL2C | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPPL2C | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPPL2C | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPPL2C | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPPL2C | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPPL2C | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPPL2C | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPPL2C |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPPL2C |
|  |  |  | | | | Search ThermoFisher Antibodies for SPPL2C |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPPL2C |
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