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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

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 Viral mRNA Translation and Peptide hormone metabolism. 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

Regulatory Elements for SPCS2 Gene

Enhancers for SPCS2 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
GH11H075022 1.2 Ensembl ENCODE 11.2 +74.1 74128 2 HDAC1 ATF1 RB1 TBL1XR1 BRCA1 ZNF2 ZBTB40 RAD21 RFX5 ZNF143 SPCS2 XRRA1 OR2AT4 SLCO2B1 ENSG00000254429 NEU3 PIR50270 PIR37723
GH11H074988 1 ENCODE 11.6 +39.9 39889 1 HDGF ARID4B SIN3A DMAP1 YY1 ATF7 SP3 SP5 MXD4 GTF2B XRRA1 POLD3 SPCS2 RPS3 RNF169 ENSG00000206913 PIRC52 NEU3
GH11H075049 0.6 ENCODE 10.3 +100.9 100910 1 ZNF687 IKZF1 NBN ZNF143 ELF1 DPF2 IKZF2 XRRA1 SLCO2B1 SPCS2 PIR37723 OR2AT2P
GH11H075327 2.1 FANTOM5 Ensembl ENCODE dbSUPER 2.4 +391.2 391240 26 MLX DMAP1 YY1 ZNF143 SP3 NFYC GLIS1 RCOR2 NBN NR2C1 POLD3 GDPD5 ARRB1 SNORD15B KLHL35 XRRA1 RNF169 NEU3 RPS3 ENSG00000254974
GH11H075174 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.8 +225.8 225805 1 HDAC1 L3MBTL2 BHLHE40 MAX USF2 MNT REST ZNF354B CTBP1 POLR2A P4HA3 ENSG00000206913 POLD3 NEU3 XRRA1 SPCS2 ARRB1 RNF169 ENSG00000255395 ZDHHC20P3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPCS2 on UCSC Golden Path with GeneCards custom track

Promoters for SPCS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000042061 153 2401 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B

Genomic Location for SPCS2 Gene

Chromosome:
11
Start:
74,949,247 bp from pter
End:
74,979,031 bp from pter
Size:
29,785 bases
Orientation:
Plus strand

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 Lys191 and Lys195
  • Modification sites at PhosphoSitePlus

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 IEA,IBA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPCS2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 IBA,IEA --
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SPCS2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Primer Products

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 Sequence Context AA Info Type
rs1000011833 -- 74,949,044(+) GCCTG(C/G)CGCTA upstream-variant-2KB, utr-variant-5-prime
rs1000303914 -- 74,954,241(+) CTCAT(A/G)TGATA intron-variant
rs1000352338 -- 74,970,877(+) CATAC(A/G)TACAG intron-variant
rs1000467105 -- 74,973,416(+) CTTCC(A/T)TTCTT intron-variant
rs1000589867 -- 74,966,369(+) CTGAG(C/G)ATGAG intron-variant

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

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

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)

Relevant External Links 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
  • neuronal ceroid-lipofuscinoses
- elite association - COSMIC cancer census association via MalaCards
Search SPCS2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPCS2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  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 60
  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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for SPCS2 Gene

Sources for SPCS2 Gene

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