Aliases for SPCS2 Gene

Aliases for SPCS2 Gene

  • Signal Peptidase Complex Subunit 2 2 3 4 5
  • Microsomal Signal Peptidase 25 KDa Subunit 3 4
  • Signal Peptidase 25kDa Subunit 2 3
  • SPase 25 KDa Subunit 3 4
  • KIAA0102 2 4
  • Signal Peptidase Complex Subunit 2 Homolog (S. Cerevisiae) 2
  • Signal Peptidase Complex Subunit 2 Homolog 3
  • EC 3.4.-.- 4
  • SPCS2 5
  • SPC25 4

External Ids for SPCS2 Gene

Previous GeneCards Identifiers for SPCS2 Gene

  • GC11P074339
  • GC11P074660
  • GC11P070957
  • GC11P074955
  • GC11P074978
  • GC11P075502
  • GC11P075555
  • GC11P075599
  • GC11P075716
  • GC11P075000
  • GC11P075119
  • GC11P075176
  • GC11P075228
  • GC11P075292
  • GC11P075345
  • GC11P075396
  • GC11P075450
  • GC11P075834
  • GC11P075954

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 Late-Onset Retinal Degeneration and Neuronal Ceroid Lipofuscinosis. Among its related pathways are Incretin synthesis, secretion, and inactivation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include peptidase activity.

UniProtKB/Swiss-Prot Summary 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.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPCS2 Gene

Genomics for SPCS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPCS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPCS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPCS2

Top Transcription factor binding sites by QIAGEN in the SPCS2 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Nkx2-5

Genomic Locations for SPCS2 Gene

Latest Assembly
chr11:74,949,247-74,979,033
(GRCh38/hg38)
Size:
29,787 bases
Orientation:
Plus strand

Previous Assembly
chr11:74,660,311-74,690,078
(GRCh37/hg19 by Entrez Gene)
Size:
29,768 bases
Orientation:
Plus strand

chr11:74,660,292-74,690,076
(GRCh37/hg19 by Ensembl)
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

InterPro:
Blocks:
  • Microsomal signal peptidase 25 kDa subunit

Suggested Antigen Peptide Sequences for SPCS2 Gene

GenScript: Design optimal peptide antigens:
  • Microsomal signal peptidase 25 kDa subunit (SPCS2_HUMAN)

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 21873635
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPCS2

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
plasma membrane 3
endoplasmic reticulum 2
extracellular 1
nucleus 1
cytosol 1
golgi apparatus 1
mitochondrion 0

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:0005783 endoplasmic reticulum IEA --
GO:0005787 signal peptidase complex IEA,IBA 21873635
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of 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 21873635
GO:0006508 proteolysis IEA --
GO:0045047 protein targeting to ER IBA 21873635
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

mRNA/cDNA for SPCS2 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPCS2

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

No ASD Table

Relevant External Links for SPCS2 Gene

GeneLoc Exon Structure for
SPCS2

Expression for SPCS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SPCS2 Gene



Protein tissue co-expression partners for SPCS2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPCS2

SOURCE GeneReport for Unigene cluster for SPCS2 Gene:

Hs.282700

Evidence on tissue expression from TISSUES for SPCS2 Gene

  • Liver(4.6)
  • Pancreas(4.5)
  • Lung(4.5)
  • Skin(4.4)
  • Bone marrow(4.2)
  • Nervous system(3.7)
  • Stomach(2.8)
  • Kidney(2.7)
  • Heart(2.6)
  • Muscle(2.5)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with SPCS2: view

Primer products for research

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 29 30
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SPCS2 29 30
  • 92.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SPCS2 29 30
  • 91.49 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Spcs2 29 16 30
  • 90.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Spcs2 29
  • 89.82 (n)
Oppossum
(Monodelphis domestica)
Mammalia SPCS2 30
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SPCS2 30
  • 77 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SPCS2 29 30
  • 79.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SPCS2 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.10344 29
Zebrafish
(Danio rerio)
Actinopterygii spcs2 29 30
  • 70.05 (n)
OneToOne
wufa12g08 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9720 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011842 29
  • 54.88 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Spase25 29 30
  • 51.35 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea hpo-21 29 30
  • 48.15 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4833 30
  • 51 (a)
OneToOne
Species where no ortholog for SPCS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SPCS2: view image
Alliance of Genome Resources:
Additional Orthologs for SPCS2

Paralogs for SPCS2 Gene

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

  • SPCS2_HUMAN
  • E9PI68_HUMAN
  • E9PL01_HUMAN
  • E9PRB9_HUMAN
  • H0YE04_HUMAN

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPCS2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SPCS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPCS2
Leiden Open Variation Database (LOVD)
SPCS2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPCS2 Gene

Disorders for SPCS2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SPCS2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
late-onset retinal degeneration
  • lord
neuronal ceroid lipofuscinosis
  • hereditary ceroid lipofuscinosis
- 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
  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
  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
  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
  5. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3

Products for SPCS2 Gene

Sources for SPCS2 Gene