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Aliases for SPPL2C Gene

Aliases for SPPL2C Gene

  • Signal Peptide Peptidase Like 2C 2 3 5
  • Intramembrane Protease 5 2 3 4
  • SPP-Like 2C 3 4
  • IMP-5 3 4
  • Imp5 3 4
  • EC 3.4.23.- 4
  • SPPL2c 4

External Ids for SPPL2C Gene

Previous GeneCards Identifiers for SPPL2C Gene

  • GC17P043923

Summaries for SPPL2C Gene

GeneCards Summary for SPPL2C Gene

SPPL2C (Signal Peptide Peptidase Like 2C) is a Protein Coding gene. GO annotations related to this gene include protein homodimerization activity and aspartic-type endopeptidase activity. An important paralog of this gene is SPPL3.

UniProtKB/Swiss-Prot for SPPL2C Gene

  • Intramembrane-cleaving aspartic protease (I-CLiP) that may be able to cleave type II membrane signal peptides in the hydrophobic plane of the membrane.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPPL2C Gene

Genomics for SPPL2C Gene

Genomic Location for SPPL2C Gene

Chromosome:
17
Start:
45,844,835 bp from pter
End:
45,847,072 bp from pter
Size:
2,238 bases
Orientation:
Plus strand

Genomic View for SPPL2C Gene

Genes around SPPL2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPPL2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPPL2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPPL2C Gene

No data available for Regulatory Elements for SPPL2C Gene

Proteins for SPPL2C Gene

  • Protein details for SPPL2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUH8-SPP2C_HUMAN
    Recommended name:
    Signal peptide peptidase-like 2C
    Protein Accession:
    Q8IUH8
    Secondary Accessions:
    • Q8TC67
    • Q8WVZ6

    Protein attributes for SPPL2C Gene

    Size:
    684 amino acids
    Molecular mass:
    74503 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPPL2C Gene

Proteomics data for SPPL2C Gene at MOPED

Post-translational modifications for SPPL2C Gene

Other Protein References for SPPL2C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SPPL2C Gene

Domains & Families for SPPL2C Gene

Protein Domains for SPPL2C Gene

Suggested Antigen Peptide Sequences for SPPL2C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IUH8

UniProtKB/Swiss-Prot:

SPP2C_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 SPPL2C: view

No data available for Gene Families for SPPL2C Gene

Function for SPPL2C Gene

Molecular function for SPPL2C Gene

UniProtKB/Swiss-Prot Function:
Intramembrane-cleaving aspartic protease (I-CLiP) that may be able to cleave type II membrane signal peptides in the hydrophobic plane of the membrane.

Enzyme Numbers (IUBMB) for SPPL2C Gene

Phenotypes for SPPL2C Gene

GenomeRNAi human phenotypes for SPPL2C:
genes like me logo Genes that share phenotypes with SPPL2C: view

Animal Model Products

CRISPR Products

miRNA for SPPL2C Gene

miRTarBase miRNAs that target SPPL2C

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPPL2C Gene

Localization for SPPL2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPPL2C Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein; Lumenal side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPPL2C Gene COMPARTMENTS Subcellular localization image for SPPL2C gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for SPPL2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IBA --
GO:0030660 Golgi-associated vesicle membrane IBA --
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane IDA 15385547
genes like me logo Genes that share ontologies with SPPL2C: view

Pathways & Interactions for SPPL2C Gene

SuperPathways for SPPL2C Gene

No Data Available

Interacting Proteins for SPPL2C Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000332488%0d%0a9606.ENSP00000408411%0d%0a9606.ENSP00000376176%0d%0a
Selected Interacting proteins: ENSP00000332488 for SPPL2C Gene via STRING

Gene Ontology (GO) - Biological Process for SPPL2C Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SPPL2C Gene

Drugs & Compounds for SPPL2C Gene

No Compound Related Data Available

Transcripts for SPPL2C Gene

mRNA/cDNA for SPPL2C Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SPPL2C Gene

Signal peptide peptidase like 2C:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SPPL2C Gene

No ASD Table

Relevant External Links for SPPL2C Gene

GeneLoc Exon Structure for
SPPL2C
ECgene alternative splicing isoforms for
SPPL2C

Expression for SPPL2C Gene

mRNA expression in normal human tissues for SPPL2C Gene

mRNA differential expression in normal tissues according to GTEx for SPPL2C Gene

This gene is overexpressed in Testis (x44.3).

Protein differential expression in normal tissues from HIPED for SPPL2C Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SPPL2C Gene



SOURCE GeneReport for Unigene cluster for SPPL2C Gene Hs.144491

mRNA Expression by UniProt/SwissProt for SPPL2C Gene

Q8IUH8-SPP2C_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with SPPL2C: view

Protein tissue co-expression partners for SPPL2C Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for SPPL2C Gene

Orthologs for SPPL2C Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SPPL2C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPPL2C 36
  • 99 (a)
OneToOne
SPPL2C 35
  • 98.93 (n)
  • 98.83 (a)
cow
(Bos Taurus)
Mammalia SPPL2C 35
  • 81.33 (n)
  • 75 (a)
SPPL2C 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPPL2C 36
  • 73 (a)
OneToOne
SPPL2C 35
  • 79.48 (n)
  • 72.89 (a)
mouse
(Mus musculus)
Mammalia Sppl2c 16
Sppl2c 36
  • 69 (a)
OneToOne
Sppl2c 35
  • 76.05 (n)
  • 69.78 (a)
oppossum
(Monodelphis domestica)
Mammalia SPPL2C 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPPL2C 36
  • 38 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sppl2c 35
  • 76.88 (n)
  • 72.31 (a)
chicken
(Gallus gallus)
Aves SPPL2B 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 30 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii sppl2 36
  • 47 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea imp-1 36
  • 22 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 16 (a)
OneToMany
Species with no ortholog for SPPL2C:
  • 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 (Oryza sativa)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SPPL2C Gene

ENSEMBL:
Gene Tree for SPPL2C (if available)
TreeFam:
Gene Tree for SPPL2C (if available)

Paralogs for SPPL2C Gene

Paralogs for SPPL2C Gene

(2) SIMAP similar genes for SPPL2C Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SPPL2C: view

Variants for SPPL2C Gene

Sequence variations from dbSNP and Humsavar for SPPL2C Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_038048 -
VAR_038049 -
VAR_038050 -
VAR_038051 -
VAR_038052 -

Variation tolerance for SPPL2C Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.29; 81.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPPL2C Gene

HapMap Linkage Disequilibrium report
SPPL2C
Human Gene Mutation Database (HGMD)
SPPL2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SPPL2C Gene

Disorders for SPPL2C Gene

Relevant External Links for SPPL2C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPPL2C

No disorders were found for SPPL2C Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SPPL2C Gene

Publications for SPPL2C Gene

  1. 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 67
  2. Regulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2b. (PMID: 17965014) Martin L. … Haass C. (J. Biol. Chem. 2008) 3 23
  3. Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. (PMID: 24429156) Noth I. … Garcia J.G. (Lancet Respir Med 2013) 3
  4. Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. (PMID: 22693459) Li R. … Richards J.B. (PLoS Genet. 2012) 3
  5. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. (PMID: 21738487) Do C.B. … Eriksson N. (PLoS Genet. 2011) 3

Products for SPPL2C Gene

Sources for SPPL2C Gene

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