SPPL2B
Signal Peptide Peptidase Like 2B
Gene Information Card
| Symbol | SPPL2B |
|---|---|
| Full Name | Signal Peptide Peptidase Like 2B |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 56928 ncbi.nlm.nih.gov/gene/56928 |
| Ensembl ID | ENSG00000105204 |
| UniProt ID | Q8TCT8 |
| OMIM ID | 608238 |
| HGNC ID | 26999 |
| Aliases | IMP4, PSL1, SPPL2b |
Description
SPPL2B encodes a member of the signal peptide peptidase (SPP) family of intramembrane aspartyl proteases. The protein localizes to the endoplasmic reticulum and Golgi and is involved in regulated intramembrane proteolysis (RIP) of type II transmembrane proteins, including the processing of tumor necrosis factor alpha (TNFα) and the cleavage of remnant signal peptides after their release from the translocon.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | N/A | No curated evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.9 | Medium |
| Lung | 6.2 | Medium |
| Liver | 4.1 | Low |
| Kidney | 7.5 | Medium |
| Testis | 10.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | High expression |
| HeLa | 9.8 | Medium expression |
| K562 | 6.1 | Medium 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% (gnomAD) | Unknown functional effect |
| c.1234G>A (p.Gly412Arg) | missense | <0.01% (gnomAD) | Unknown functional effect |
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 dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • aspartic-type endopeptidase activity | • intramembrane proteolysis |
| • membrane | • endoplasmic reticulum |
| • Golgi apparatus | • signal peptide processing |
Pathways
• Regulated intramembrane proteolysis (RIP)
• TNF alpha signaling
Protein Summary
SPPL2B is a 520-amino acid intramembrane aspartyl protease with multiple transmembrane domains. It cleaves type II transmembrane substrates within the lipid bilayer, contributing to the release of intracellular domains that may regulate gene expression or signaling. The protein is widely expressed and has been implicated in immune regulation through processing of TNFα.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPPL2B Knockout HEK293 Cell Line | EDJ-KQ15491 | Human | 56928 | Details Get a Quote |
| SPPL2B Knockout A-549 Cell Line | EDJ-KQ46283 | Human | 56928 | Details Get a Quote |
| SPPL2B Knockout HCT 116 Cell Line | EDJ-KQ46284 | Human | 56928 | Details Get a Quote |
| SPPL2B Knockout HeLa Cell Line | EDJ-KQ46285 | Human | 56928 | Details Get a Quote |
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