SPPL2C
Signal Peptide Peptidase Like 2C
Gene Information Card
| Symbol | SPPL2C |
|---|---|
| Full Name | Signal Peptide Peptidase Like 2C |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000108423 |
| UniProt ID | Q8TCT8 |
| OMIM ID | 608205 |
| HGNC ID | 11223 |
| Aliases | IMP4, PSL4, SPP-like 2C |
Description
SPPL2C (Signal Peptide Peptidase Like 2C) is a protein-coding gene that encodes an intramembrane aspartyl protease belonging to the presenilin-like family. The protein is involved in regulated intramembrane proteolysis (RIP) of type II transmembrane proteins, including the cleavage of tumor necrosis factor alpha (TNFα) and other substrates. SPPL2C is expressed in various tissues and has been implicated in immune signaling and neurodegenerative processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | SPPL2C variants may influence amyloid precursor protein (APP) processing and Aβ peptide generation, though direct mechanism not fully established. | ClinVar, NCBI Gene |
| Cancer (colorectal, breast) | Altered expression or mutations may affect TNFα signaling and cell proliferation. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | <0.01% | Unknown functional impact |
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not established for SPPL2C; no confirmed loss-of-function variants reported.
Gain of Function (GOF)
Not established; no confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not established; no evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • aspartic-type endopeptidase activity | • intramembrane proteolysis |
| • membrane | • integral component of membrane |
| • proteolysis |
Pathways
• Regulated intramembrane proteolysis (RIP)
• TNF alpha signaling
Protein Summary
SPPL2C is a 377-amino acid intramembrane aspartyl protease with multiple transmembrane domains. It localizes to the endoplasmic reticulum and Golgi apparatus, where it cleaves type II transmembrane proteins such as TNFα, contributing to immune regulation. The protein shares homology with presenilins and other signal peptide peptidases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPPL2C Knockout HEK293 Cell Line | EDJ-KQ15492 | Human | 162540 | Details Get a Quote |
| SPPL2C Knockout HeLa Cell Line | EDJ-KQ58842 | Human | 162540 | Details Get a Quote |
| SPPL2C Knockout A-549 Cell Line | EDJ-KQ67330 | Human | 162540 | Details Get a Quote |
| SPPL2C Knockout HCT 116 Cell Line | EDJ-KQ75725 | Human | 162540 | Details Get a Quote |
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