SPCS2: Signal Peptidase Complex Subunit 2
A key component of the microsomal signal peptidase complex involved in protein processing and translocation.
Gene Information Card
| Symbol | SPCS2 |
|---|---|
| Full Name | Signal Peptidase Complex Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 9789 ncbi.nlm.nih.gov/gene/9789 |
| Ensembl ID | ENSG00000149311 |
| UniProt ID | Q15005 |
| OMIM ID | 611326 |
| HGNC ID | 28700 |
| Aliases | SPC2, SPC25, HSPC033 |
Description
SPCS2 encodes subunit 2 of the microsomal signal peptidase complex, which cleaves signal peptides from nascent proteins as they are translocated into the endoplasmic reticulum. This subunit is essential for complex stability and catalytic activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pancreatic, colorectal) | Altered SPCS2 expression may affect protein processing and secretion, contributing to tumor progression. | COSMIC; NCBI GeneRIF |
| Neurodevelopmental disorders | Rare variants in SPCS2 have been associated with intellectual disability and developmental delay. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 18.5 | High |
| Liver | 12.3 | Medium |
| Kidney | 10.1 | Medium |
| Brain | 6.8 | Low |
| Heart | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK293 | 14.8 | Embryonic kidney cells |
| HepG2 | 13.5 | Hepatocellular carcinoma |
| MCF7 | 9.3 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | 0.001% | Loss of function; associated with neurodevelopmental delay |
| c.482G>A (p.Arg161Gln) | Missense | 0.002% | Uncertain significance |
| c.1A>G (p.Met1Val) | Start loss | <0.001% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants reduce SPCS2 stability or catalytic activity, impairing signal peptide cleavage.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented.
View complete mutation data：
Gene Ontology (GO)
| • signal peptidase complex (GO:0005787) | • signal peptide processing (GO:0006465) |
| • integral component of membrane (GO:0016021) | • peptidase activity (GO:0008233) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Signal peptide cleavage (Reactome: R-HSA-9609736)
Protein Summary
SPCS2 is a 25 kDa transmembrane protein that forms part of the heterotetrameric signal peptidase complex (SPC) in the endoplasmic reticulum membrane. It is required for the endoproteolytic cleavage of signal peptides from secretory and membrane proteins. The protein contains a conserved domain essential for complex assembly and catalytic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPCS2 Knockout HEK293 Cell Line | EDJ-KQ50907 | Human | 9789 | Details Get a Quote |
| SPCS2 Knockout HeLa Cell Line | EDJ-KQ55256 | Human | 9789 | Details Get a Quote |
| SPCS2 Knockout A-549 Cell Line | EDJ-KQ63733 | Human | 9789 | Details Get a Quote |
| SPCS2 Knockout HCT 116 Cell Line | EDJ-KQ72192 | Human | 9789 | Details Get a Quote |
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