EMC9
ER Membrane Protein Complex Subunit 9
Gene Information Card
| Symbol | EMC9 |
|---|---|
| Full Name | ER membrane protein complex subunit 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 100129361 ncbi.nlm.nih.gov/gene/100129361 |
| Ensembl ID | ENSG00000100842 |
| UniProt ID | Q9Y3B2 |
| OMIM ID | 615920 |
| HGNC ID | 28973 |
| Aliases | C14orf122, HSPC111, MGC13170 |
Description
EMC9 encodes a subunit of the endoplasmic reticulum (ER) membrane protein complex (EMC), which is involved in the insertion of tail-anchored membrane proteins into the ER membrane. The EMC is essential for proper protein biogenesis and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations in EMC9 impair ER membrane protein insertion, leading to cellular stress and developmental defects. | ClinVar, OMIM |
| Congenital disorder of glycosylation (type II) | EMC9 deficiency disrupts ER function, affecting glycosylation pathways. | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 10.5 | Medium |
| Heart | 8.3 | Low |
| Testis | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | Embryonic kidney cells |
| HeLa | 14.2 | Cervical cancer cells |
| HepG2 | 11.0 | Liver cancer cells |
| SH-SY5Y | 16.7 | Neuroblastoma 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.Arg109*) | nonsense | Rare | Premature stop, loss of function |
| c.518_519del (p.Glu173Glyfs*12) | frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in EMC9 are loss-of-function, leading to reduced or absent protein.
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:0072540) |
| • protein insertion into ER membrane (GO:0045047) | • intracellular protein transport (GO:0006886) |
Pathways
• ER membrane protein complex (EMC) pathway
• Tail-anchored protein insertion pathway
Protein Summary
EMC9 is a 25 kDa protein with 221 amino acids, containing a single transmembrane domain. It is a component of the ER membrane protein complex, which facilitates the insertion of tail-anchored proteins into the ER membrane. The protein is ubiquitously expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMC9 Knockout HEK293 Cell Line | EDJ-KQ10881 | Human | 51016 | Details Get a Quote |
| EMC9 Knockout A-549 Cell Line | EDJ-KQ38571 | Human | 51016 | Details Get a Quote |
| EMC9 Knockout HCT 116 Cell Line | EDJ-KQ38572 | Human | 51016 | Details Get a Quote |
| EMC9 Knockout HeLa Cell Line | EDJ-KQ38573 | Human | 51016 | Details Get a Quote |
