SPPL2A
Signal Peptide Peptidase Like 2A
Gene Information Card
| Symbol | SPPL2A |
|---|---|
| Full Name | Signal Peptide Peptidase Like 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.2 |
| NCBI Gene ID | 84888 ncbi.nlm.nih.gov/gene/84888 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q8TCT8 |
| OMIM ID | 608238 |
| HGNC ID | 28780 |
| Aliases | IMP3, PSL1, SPPL2a |
Description
SPPL2A encodes a member of the GXGD-type aspartyl protease family, localized to the Golgi apparatus. It functions as an intramembrane protease that cleaves type II transmembrane proteins, including tumor necrosis factor alpha (TNFα) and the invariant chain of MHC class II (CD74). SPPL2A is involved in immune regulation, protein turnover, and cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Potential role in amyloid precursor protein (APP) processing; altered SPPL2A expression may affect Aβ production. | Limited; expression changes observed in brain tissue (NCBI Gene, UniProt) |
| Immunodeficiency (MHC class II deficiency) | Impaired CD74 cleavage leads to defective antigen presentation. | Inferred from functional studies (UniProt) |
| Cancer (breast, colorectal) | Dysregulated SPPL2A expression may influence tumor microenvironment via TNFα processing. | Expression data from COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 7.8 | Medium |
| Testis | 12.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.1 | Embryonic kidney; moderate expression |
| HeLa | 7.4 | Cervical carcinoma; moderate expression |
| K562 | 5.6 | Leukemia; low expression |
| MCF7 | 8.9 | Breast cancer; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; rare population variant (ClinVar) |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% | Unknown; rare population variant (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • aspartic-type endopeptidase activity | • intramembrane proteolysis |
| • Golgi membrane | • proteolysis |
| • immune response |
Pathways
• Intramembrane proteolysis
• MHC class II antigen presentation
• TNFα signaling
Protein Summary
SPPL2A is a 520-amino acid aspartyl protease with multiple transmembrane domains. It localizes to the Golgi and cleaves substrates like CD74 and TNFα, regulating immune responses and protein homeostasis. The protein is ubiquitously expressed with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPPL2A Knockout HEK293 Cell Line | EDJ-KQ10236 | Human | 84888 | Details Get a Quote |
| SPPL2A Knockout A-549 Cell Line | EDJ-KQ37417 | Human | 84888 | Details Get a Quote |
| SPPL2A Knockout HCT 116 Cell Line | EDJ-KQ37418 | Human | 84888 | Details Get a Quote |
| SPPL2A Knockout HeLa Cell Line | EDJ-KQ37419 | Human | 84888 | Details Get a Quote |
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