EMC2 (ER Membrane Protein Complex Subunit 2)
A component of the ER membrane protein complex involved in protein insertion and cellular homeostasis.
Gene Information Card
| Symbol | EMC2 |
|---|---|
| Full Name | ER Membrane Protein Complex Subunit 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 9694 ncbi.nlm.nih.gov/gene/9694 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9Y5B6 |
| OMIM ID | 615367 |
| HGNC ID | 28967 |
| Aliases | KIAA0103, TTC35, UNQ1887/PRO4333 |
Description
EMC2 encodes a subunit of the endoplasmic reticulum (ER) membrane protein complex (EMC), which facilitates the insertion of tail-anchored and multi-pass transmembrane proteins into the ER membrane. The EMC is conserved across eukaryotes and plays a critical role in protein biogenesis, ER stress response, and cellular homeostasis. EMC2 interacts with other EMC subunits to form a stable complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| EMC2-related disorder (hypotonia, developmental delay) | Loss-of-function mutations impair ER protein insertion, leading to ER stress and cellular dysfunction. | ClinVar, OMIM |
| Cancer (various types) | Altered EMC2 expression may affect membrane protein trafficking and signaling pathways. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Liver | 6.5 | Low |
| Heart | 5.2 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HeLa | 8.9 | Cervical cancer cells |
| K562 | 7.4 | Leukemia cells |
| HepG2 | 6.2 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109Trp) | missense | <0.01% | Missense variant of uncertain significance |
| c.487_489del (p.Lys163del) | inframe deletion | <0.01% | In-frame deletion, functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in EMC2 are associated with ER stress and developmental phenotypes.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • EMC complex (GO:0072540) |
| • protein insertion into ER membrane (GO:0045047) | • response to ER stress (GO:0034976) |
Pathways
• ER membrane protein complex (EMC) pathway
• Tail-anchored protein insertion pathway
Protein Summary
EMC2 is a 35 kDa protein with a tetratricopeptide repeat (TPR) domain that mediates protein-protein interactions within the EMC. It localizes to the ER membrane and is essential for the stability and function of the EMC. The protein is ubiquitously expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMC2 Knockout HEK293 Cell Line | EDJ-KQ3174 | Human | 9694 | Details Get a Quote |
| EMC2 Knockout A-549 Cell Line | EDJ-KQ25955 | Human | 9694 | Details Get a Quote |
| EMC2 Knockout HCT 116 Cell Line | EDJ-KQ25956 | Human | 9694 | Details Get a Quote |
| EMC2 Knockout HeLa Cell Line | EDJ-KQ25957 | Human | 9694 | Details Get a Quote |
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