EMC7: Endoplasmic Reticulum Membrane Protein Complex Subunit 7
A key component of the ER membrane protein complex (EMC) involved in protein insertion and quality control.
Gene Information Card
| Symbol | EMC7 |
|---|---|
| Full Name | ER membrane protein complex subunit 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q24.2 |
| NCBI Gene ID | 56851 ncbi.nlm.nih.gov/gene/56851 |
| Ensembl ID | ENSG00000137809 |
| UniProt ID | Q9NPA0 |
| OMIM ID | 615417 |
| HGNC ID | 24619 |
| Aliases | C15orf24, FLJ10637, MGC13170 |
Description
EMC7 encodes a subunit of the endoplasmic reticulum (ER) membrane protein complex (EMC), a multi-protein complex that facilitates the insertion of newly synthesized membrane proteins into the ER membrane. The EMC is also involved in ER-associated degradation (ERAD) and cellular stress responses. EMC7 is ubiquitously expressed and is essential for proper protein biogenesis and homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No direct evidence from ClinVar or OMIM as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 13.2 | Medium |
| Brain | 11.5 | Medium |
| Liver | 15.8 | Medium |
| Heart | 12.0 | Medium |
| Kidney | 14.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 16.2 | High expression |
| K562 | 12.8 | Medium expression |
| HepG2 | 14.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of function; initiation codon change |
| c.287C>T (p.Pro96Leu) | Missense | Rare | Unknown effect; no disease association reported |
Mutation functional classification
Loss of Function (LOF)
Potential loss-of-function mutations (e.g., start codon loss) may impair EMC assembly and ER protein insertion.
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)
| • endoplasmic reticulum (GO:0005783) | • ER membrane protein complex (GO:0072542) |
| • ribosome binding (GO:0043021) | • protein insertion into ER membrane (GO:0045047) |
Pathways
• REAC:R-HSA-5368286 - Mitochondrial protein import
• REAC:R-HSA-983712 - ER membrane protein complex (EMC) mediated insertion
Protein Summary
EMC7 is a 247-amino acid protein with a single transmembrane domain, localized to the endoplasmic reticulum membrane. It is a core component of the EMC, which cooperates with the Sec61 translocon to insert tail-anchored and multi-pass membrane proteins. EMC7 is conserved across eukaryotes and is critical for cellular proteostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMC7 Knockout HEK293 Cell Line | EDJ-KQ13282 | Human | 56851 | Details Get a Quote |
| EMC7 Knockout A-549 Cell Line | EDJ-KQ42703 | Human | 56851 | Details Get a Quote |
| EMC7 Knockout HCT 116 Cell Line | EDJ-KQ42704 | Human | 56851 | Details Get a Quote |
| EMC7 Knockout HeLa Cell Line | EDJ-KQ42705 | Human | 56851 | Details Get a Quote |
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