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Aliases for SPCS2 Gene

Aliases for SPCS2 Gene

  • Signal Peptidase Complex Subunit 2 2 3 5
  • Signal Peptidase Complex Subunit 2 Homolog (S. Cerevisiae) 2
  • Microsomal Signal Peptidase 25 KDa Subunit 4
  • Signal Peptidase 25kDa Subunit 2
  • SPase 25 KDa Subunit 4
  • EC 3.4.-.- 4
  • KIAA0102 4
  • SPC25 4

External Ids for SPCS2 Gene

Previous GeneCards Identifiers for SPCS2 Gene

  • GC11P074339
  • GC11P074660
  • GC11P070957
  • GC11P074955
  • GC11P074978
  • GC11P075000
  • GC11P075119
  • GC11P075176
  • GC11P075228
  • GC11P075292

Summaries for SPCS2 Gene

GeneCards Summary for SPCS2 Gene

SPCS2 (Signal Peptidase Complex Subunit 2) is a Protein Coding gene. Diseases associated with SPCS2 include Neuronal Ceroid Lipofuscinosis. Among its related pathways are Peptide hormone metabolism and Gene Expression. Gene Ontology (GO) annotations related to this gene include peptidase activity.

UniProtKB/Swiss-Prot for SPCS2 Gene

  • Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.

Additional gene information for SPCS2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPCS2 Gene

Genomics for SPCS2 Gene

GeneHancer (GH) Regulatory Elements for SPCS2 Gene

Promoters and enhancers for SPCS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I074948 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.2 2204 6.6 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 XRRA1 SPCS2 POLD3 ENSG00000206913 RNF169 SNORD15B RN7SL239P GC11M074969 RNU6-216P
GH11I074988 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.6 +39.9 39889 2 HDGF ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B ATF7 SP3 RXRA NEU3 XRRA1 POLD3 SPCS2 RPS3 RNF169 ENSG00000206913 PIRC52
GH11I075022 Enhancer 1 Ensembl ENCODE 11.2 +74.1 74127 2.1 HDAC1 ATF1 RB1 ZNF2 BRCA1 ZNF48 RAD21 ZBTB40 RFX5 ARID2 SPCS2 XRRA1 OR2AT4 SLCO2B1 ENSG00000254429 NEU3 PIR50270 PIR37723 PIRC52
GH11I075327 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.4 +391.2 391239 26.4 CLOCK MLX DMAP1 IRF4 YY1 ZNF143 SP3 NFYC GLIS1 RCOR2 ARRB1 POLD3 GDPD5 SNORD15B KLHL35 XRRA1 RNF169 NEU3 RPS3 ENSG00000254974
GH11I074459 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 2.8 -487.5 -487452 4.1 HDGF PKNOX1 SMAD1 MLX ARID4B YY1 ZNF766 SP5 REST ZNF592 KCNE3 ENSG00000254974 RNF169 SPCS2 C2CD3 ENSG00000254928 ENSG00000254631
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SPCS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPCS2 gene promoter:

Genomic Locations for SPCS2 Gene

Genomic Locations for SPCS2 Gene
chr11:74,949,247-74,979,031
(GRCh38/hg38)
Size:
29,785 bases
Orientation:
Plus strand
chr11:74,660,292-74,690,076
(GRCh37/hg19)

Genomic View for SPCS2 Gene

Genes around SPCS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPCS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPCS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPCS2 Gene

Proteins for SPCS2 Gene

  • Protein details for SPCS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15005-SPCS2_HUMAN
    Recommended name:
    Signal peptidase complex subunit 2
    Protein Accession:
    Q15005
    Secondary Accessions:
    • Q15507
    • Q3KQT0
    • Q641R4
    • Q6FG65
    • Q6IRX0
    • Q6P1P4
    • Q96HU9

    Protein attributes for SPCS2 Gene

    Size:
    226 amino acids
    Molecular mass:
    25003 Da
    Quaternary structure:
    • Component of the microsomal signal peptidase complex which consists of five members: SEC11A, SEC11C, SPCS1, SPCS2 and SPCS3.
    SequenceCaution:
    • Sequence=AAH08063.3; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH70276.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH82231.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA03492.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SPCS2 Gene

Post-translational modifications for SPCS2 Gene

  • Ubiquitination at posLast=191191 and posLast=195195

Other Protein References for SPCS2 Gene

No data available for DME Specific Peptides for SPCS2 Gene

Domains & Families for SPCS2 Gene

Gene Families for SPCS2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SPCS2 Gene

Suggested Antigen Peptide Sequences for SPCS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15005

UniProtKB/Swiss-Prot:

SPCS2_HUMAN :
  • Belongs to the SPCS2 family.
Family:
  • Belongs to the SPCS2 family.
genes like me logo Genes that share domains with SPCS2: view

Function for SPCS2 Gene

Molecular function for SPCS2 Gene

UniProtKB/Swiss-Prot Function:
Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.

Enzyme Numbers (IUBMB) for SPCS2 Gene

Gene Ontology (GO) - Molecular Function for SPCS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 contributes_to peptidase activity IBA,IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with SPCS2: view
genes like me logo Genes that share phenotypes with SPCS2: view

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPCS2 Gene

Localization for SPCS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPCS2 Gene

Microsome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPCS2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SPCS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005787 signal peptidase complex IEA,IBA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with SPCS2: view

Pathways & Interactions for SPCS2 Gene

genes like me logo Genes that share pathways with SPCS2: view

Gene Ontology (GO) - Biological Process for SPCS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006465 signal peptide processing IEA,IBA --
GO:0006508 proteolysis IEA --
GO:0045047 protein targeting to ER IBA --
genes like me logo Genes that share ontologies with SPCS2: view

No data available for SIGNOR curated interactions for SPCS2 Gene

Drugs & Compounds for SPCS2 Gene

No Compound Related Data Available

Transcripts for SPCS2 Gene

Unigene Clusters for SPCS2 Gene

Signal peptidase complex subunit 2 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPCS2 Gene

No ASD Table

Relevant External Links for SPCS2 Gene

GeneLoc Exon Structure for
SPCS2
ECgene alternative splicing isoforms for
SPCS2

Expression for SPCS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPCS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPCS2 Gene

This gene is overexpressed in Nasal epithelium (28.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPCS2 Gene



Protein tissue co-expression partners for SPCS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPCS2 Gene:

SPCS2

SOURCE GeneReport for Unigene cluster for SPCS2 Gene:

Hs.282700

Evidence on tissue expression from TISSUES for SPCS2 Gene

  • Liver(4.6)
  • Lung(4.5)
  • Pancreas(4.5)
  • Skin(4.3)
  • Bone marrow(4.2)
  • Nervous system(3.5)
  • Stomach(2.8)
  • Heart(2.5)
  • Intestine(2.3)
  • Kidney(2.3)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with SPCS2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPCS2 Gene

Orthologs for SPCS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPCS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPCS2 33 34
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia SPCS2 33 34
  • 92.48 (n)
cow
(Bos Taurus)
Mammalia SPCS2 33 34
  • 91.49 (n)
mouse
(Mus musculus)
Mammalia Spcs2 33 16 34
  • 90.86 (n)
rat
(Rattus norvegicus)
Mammalia Spcs2 33
  • 89.82 (n)
oppossum
(Monodelphis domestica)
Mammalia SPCS2 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPCS2 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPCS2 33 34
  • 79.76 (n)
lizard
(Anolis carolinensis)
Reptilia SPCS2 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10344 33
zebrafish
(Danio rerio)
Actinopterygii spcs2 33 34
  • 70.05 (n)
wufa12g08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9720 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011842 33
  • 54.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta Spase25 33 34
  • 51.35 (n)
worm
(Caenorhabditis elegans)
Secernentea hpo-21 33 34
  • 48.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4833 34
  • 51 (a)
OneToOne
Species where no ortholog for SPCS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for SPCS2 Gene

ENSEMBL:
Gene Tree for SPCS2 (if available)
TreeFam:
Gene Tree for SPCS2 (if available)

Paralogs for SPCS2 Gene

(1) SIMAP similar genes for SPCS2 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for SPCS2 Gene

genes like me logo Genes that share paralogs with SPCS2: view

No data available for Paralogs for SPCS2 Gene

Variants for SPCS2 Gene

Sequence variations from dbSNP and Humsavar for SPCS2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000011833 -- 74,949,044(+) C/G upstream_transcript_variant
rs1000303914 -- 74,954,241(+) A/G intron_variant
rs1000352338 -- 74,970,877(+) A/G intron_variant
rs1000467105 -- 74,973,416(+) T/A intron_variant
rs1000589867 -- 74,966,369(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SPCS2 Gene

Variant ID Type Subtype PubMed ID
nsv972047 CNV duplication 23825009
nsv832210 CNV gain+loss 17160897

Variation tolerance for SPCS2 Gene

Residual Variation Intolerance Score: 56.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPCS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPCS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPCS2 Gene

Disorders for SPCS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPCS2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuronal ceroid lipofuscinosis
  • batten disease
- elite association - COSMIC cancer census association via MalaCards
Search SPCS2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPCS2

genes like me logo Genes that share disorders with SPCS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPCS2 Gene

Publications for SPCS2 Gene

  1. Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. (PMID: 24480542) Argente J … Pérez-Jurado LA (EMBO molecular medicine 2014) 2 3 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Membrane topology of the 12- and the 25-kDa subunits of the mammalian signal peptidase complex. (PMID: 8632014) Kalies KU … Hartmann E (The Journal of biological chemistry 1996) 2 3 58
  4. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T … Kotani H (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for SPCS2 Gene

Sources for SPCS2 Gene

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