EVA1B
Eva-1 Homolog B, Regulator of Programmed Cell Death and Autophagy
Gene Information Card
| Symbol | EVA1B |
|---|---|
| Full Name | Eva-1 Homolog B |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 55194 ncbi.nlm.nih.gov/gene/55194 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9H8H0 |
| OMIM ID | 617649 |
| HGNC ID | HGNC:28791 |
| Aliases | TMEM166, C12orf45, EVA1B |
Description
EVA1B (Eva-1 Homolog B) is a protein-coding gene located on chromosome 12q13.13. It encodes a transmembrane protein involved in the regulation of autophagy and apoptosis. The protein is localized to the endoplasmic reticulum and lysosomes, and its expression is induced under stress conditions such as nutrient deprivation. EVA1B has been implicated in tumor suppression and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | EVA1B downregulation reduces autophagy and promotes tumor growth | PMID: 27260173 |
| Breast cancer | Loss of EVA1B expression correlates with poor prognosis and increased proliferation | PMID: 28793258 |
| Colorectal cancer | EVA1B overexpression induces apoptosis and inhibits cell migration | PMID: 30356099 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Medium |
| Breast | 3.8 | Low |
| Colon | 4.1 | Low |
| Brain | 1.5 | Not detected |
| Kidney | 6.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 7.3 | Hepatocellular carcinoma cell line |
| MCF7 | 4.5 | Breast cancer cell line |
| HT-29 | 5.1 | Colorectal adenocarcinoma cell line |
| HEK293 | 3.2 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown functional impact |
| c.415G>A (p.Val139Met) | Missense | <0.01% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Reduced expression or loss-of-function mutations in EVA1B impair autophagy and promote cell survival in cancer contexts.
Gain of Function (GOF)
Not well characterized; overexpression studies suggest pro-apoptotic effects.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • apoptotic process |
| • positive regulation of autophagy | • protein homodimerization activity |
| • endoplasmic reticulum membrane | • lysosomal membrane |
Pathways
• Autophagy - animal
• Apoptosis
Protein Summary
The EVA1B protein (UniProt Q9H8H0) is a 163-amino acid transmembrane protein with a single transmembrane domain. It localizes to the endoplasmic reticulum and lysosomes, where it promotes autophagosome formation and lysosomal function. EVA1B interacts with BECN1 and other autophagy regulators, and its expression is often downregulated in cancers, suggesting a tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EVA1B Knockout HEK293 Cell Line | EDJ-KQ51430 | Human | 55194 | Details Get a Quote |
| EVA1B Knockout HeLa Cell Line | EDJ-KQ56550 | Human | 55194 | Details Get a Quote |
| EVA1B Knockout A-549 Cell Line | EDJ-KQ65046 | Human | 55194 | Details Get a Quote |
| EVA1B Knockout HCT 116 Cell Line | EDJ-KQ73491 | Human | 55194 | Details Get a Quote |
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