ELAPOR2 (Endosome-Lysosome Associated Apoptosis and Autophagy Regulator Family Member 2)
A regulator of endosomal-lysosomal trafficking and autophagy with potential roles in cancer and neurodegenerative diseases.
Gene Information Card
| Symbol | ELAPOR2 |
|---|---|
| Full Name | Endosome-Lysosome Associated Apoptosis and Autophagy Regulator Family Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 23236 ncbi.nlm.nih.gov/gene/23236 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9P2E3 |
| OMIM ID | 616647 |
| HGNC ID | 29236 |
| Aliases | KIAA1328, C1orf167 |
Description
ELAPOR2 (Endosome-Lysosome Associated Apoptosis and Autophagy Regulator Family Member 2) is a protein-coding gene located on chromosome 1q32.1. It encodes a transmembrane protein involved in endosomal-lysosomal trafficking, autophagy regulation, and apoptosis. The protein is thought to modulate cellular stress responses and has been implicated in cancer progression and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of autophagy and apoptosis pathways; altered ELAPOR2 expression may promote tumorigenesis | Expression studies in tumor samples (COSMIC, TCGA) |
| Neurodegenerative diseases | Impaired lysosomal function and autophagy leading to protein aggregation | Functional studies in cellular models |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.7 | Low |
| Kidney | 15.2 | Medium |
| Testis | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 9.2 | Moderate expression |
| SH-SY5Y | 14.7 | High expression |
| MCF7 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown functional impact |
| c.567_568del (p.Leu190fs) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • apoptotic process |
| • endosome to lysosome transport | • lysosomal membrane |
| • protein binding |
Pathways
• Autophagy - animal
• Lysosome
• Apoptosis
Protein Summary
ELAPOR2 encodes a 1,028-amino acid transmembrane protein localized to endosomes and lysosomes. It contains a conserved domain (DUF) and is involved in regulating autophagy and apoptosis. The protein interacts with components of the endosomal sorting complex required for transport (ESCRT) machinery and modulates lysosomal degradation pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELAPOR2 Knockout HEK293 Cell Line | EDJ-KQ8235 | Human | 222223 | Details Get a Quote |
| ELAPOR2 Knockout HCT 116 Cell Line | EDJ-KQ35408 | Human | 222223 | Details Get a Quote |
| ELAPOR2 Knockout HeLa Cell Line | EDJ-KQ35409 | Human | 222223 | Details Get a Quote |
| ELAPOR2 Knockout A-549 Cell Line | EDJ-KQ67654 | Human | 222223 | Details Get a Quote |
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