EMC4 Gene - ER Membrane Protein Complex Subunit 4
Essential component of the ER membrane protein complex (EMC) involved in protein folding and quality control
Gene Information Card
| Symbol | EMC4 |
|---|---|
| Full Name | ER Membrane Protein Complex Subunit 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 51234 ncbi.nlm.nih.gov/gene/51234 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q5J8M3 |
| OMIM ID | 617565 |
| HGNC ID | 28332 |
| Aliases | TMEM85, MGC26594 |
Description
EMC4 encodes a subunit of the endoplasmic reticulum (ER) membrane protein complex (EMC), a multi-protein complex that facilitates the insertion of tail-anchored and multi-pass transmembrane proteins into the ER membrane. The EMC is also involved in protein folding, quality control, and ER-associated degradation (ERAD). EMC4 is essential for proper cellular homeostasis and has been implicated in neurological disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss of EMC4 function disrupts ER protein insertion, leading to ER stress and neuronal dysfunction | PMID: 31585110 |
| Hereditary spastic paraplegia | Impaired EMC4-mediated membrane protein biogenesis affects axonal transport | PMID: 31585110 |
| Cancer (various) | Altered EMC4 expression may affect cell adhesion and signaling pathways | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 8.9 | Medium |
| Kidney | 11.3 | Medium |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.8 | Medium expression |
| SH-SY5Y | 13.2 | High expression |
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.346C>T (p.Arg116*) | Nonsense | Rare | Premature stop, loss of function |
| c.500_501del (p.Leu167fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported EMC4 mutations are loss-of-function, leading to reduced EMC complex activity and ER stress.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EMC4.
Dominant Negative (DN)
No dominant-negative mutations have been described for EMC4.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • ER membrane protein complex (GO:0072543) |
| • protein insertion into ER membrane (GO:0045047) | • response to ER stress (GO:0034976) |
| • response to unfolded protein (GO:0006986) |
Pathways
• ER membrane protein complex (EMC) pathway
• Unfolded protein response (UPR)
Protein Summary
EMC4 is a 247-amino acid protein with a single transmembrane domain. It is a core component of the ER membrane protein complex (EMC), which consists of 9 subunits (EMC1-9). The EMC is conserved from yeast to humans and is critical for the biogenesis of transmembrane proteins, including receptors, ion channels, and adhesion molecules. EMC4 interacts directly with EMC1 and EMC3 to stabilize the complex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMC4 Knockout HEK293 Cell Line | EDJ-KQ10990 | Human | 51234 | Details Get a Quote |
| EMC4 Knockout A-549 Cell Line | EDJ-KQ38830 | Human | 51234 | Details Get a Quote |
| EMC4 Knockout HCT 116 Cell Line | EDJ-KQ38831 | Human | 51234 | Details Get a Quote |
| EMC4 Knockout HeLa Cell Line | EDJ-KQ38832 | Human | 51234 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
