EMC8 Gene - Endoplasmic Reticulum Membrane Protein Complex Subunit 8
Essential component of the EMC complex involved in protein folding and quality control at the ER membrane.
Gene Information Card
| Symbol | EMC8 |
|---|---|
| Full Name | Endoplasmic Reticulum Membrane Protein Complex Subunit 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.1 |
| NCBI Gene ID | 10328 ncbi.nlm.nih.gov/gene/10328 |
| Ensembl ID | ENSG00000103174 |
| UniProt ID | Q9UQ35 |
| OMIM ID | 614556 |
| HGNC ID | 28952 |
| Aliases | C16orf2, EMC8, HSPC042, MGC13170 |
Description
EMC8 encodes a subunit of the endoplasmic reticulum membrane protein complex (EMC), a multi-protein complex that facilitates the insertion of newly synthesized transmembrane proteins into the ER membrane and assists in protein folding and quality control. The EMC complex is conserved across eukaryotes and is critical for cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability (candidate) | Loss-of-function variants in EMC8 may impair ER protein insertion, leading to neuronal dysfunction. | ClinVar: pathogenic variants reported in individuals with neurodevelopmental phenotypes. |
| Cancer (general) | Altered EMC8 expression may affect ER stress response and tumor progression. | COSMIC: somatic mutations observed in various cancers, including colorectal and lung. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.8 | High expression in embryonic kidney cells |
| HeLa | 11.2 | Moderate expression in cervical cancer cells |
| HepG2 | 7.5 | Low expression in liver cancer cells |
| K562 | 9.1 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | 0.001% | Substitution in conserved domain, uncertain significance |
| c.487_489del (p.Lys163del) | Deletion | Rare | In-frame deletion, may disrupt protein interaction |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start codon loss, truncations) are associated with reduced EMC complex activity and ER protein insertion defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EMC8.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for EMC8.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • ER membrane protein complex (GO:0072546) |
| • ribosome binding (GO:0043021) | • protein targeting to ER (GO:0006620) |
| • response to ER stress (GO:0034976) |
Pathways
• Endoplasmic reticulum membrane protein complex (EMC) pathway
• Unfolded protein response (UPR) - related
Protein Summary
EMC8 is a 25 kDa protein with 222 amino acids, containing a single transmembrane domain. It is an integral component of the EMC complex, which interacts with ribosomes to facilitate co-translational insertion of tail-anchored and multi-pass transmembrane proteins into the ER membrane. EMC8 is ubiquitously expressed and essential for ER homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMC8 Knockout HEK293 Cell Line | EDJ-KQ50958 | Human | 10328 | Details Get a Quote |
| EMC8 Knockout HeLa Cell Line | EDJ-KQ55380 | Human | 10328 | Details Get a Quote |
| EMC8 Knockout A-549 Cell Line | EDJ-KQ63862 | Human | 10328 | Details Get a Quote |
| EMC8 Knockout HCT 116 Cell Line | EDJ-KQ72319 | Human | 10328 | Details Get a Quote |
