SMIM20
Small Integral Membrane Protein 20
Gene Information Card
| Symbol | SMIM20 |
|---|---|
| Full Name | Small Integral Membrane Protein 20 |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q32.1 |
| NCBI Gene ID | 100130449 ncbi.nlm.nih.gov/gene/100130449 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q5T8X6 |
| OMIM ID | 620362 |
| HGNC ID | 44287 |
| Aliases | MGC16384, FLJ39616 |
Description
SMIM20 (Small Integral Membrane Protein 20) is a protein-coding gene located on chromosome 4q32.1. The encoded protein is a small integral membrane protein of unknown function. It is predicted to be localized to cellular membranes. Expression data indicate broad tissue distribution with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | No evidence in ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 4.8 | Low |
| Heart | 3.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 3.0 | Low expression |
| HeLa | 2.5 | Low expression |
| K562 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane |
Protein Summary
SMIM20 encodes a small integral membrane protein of 82 amino acids. The protein contains a single transmembrane domain and is predicted to localize to the plasma membrane or intracellular membranes. Its biological function remains uncharacterized, and no specific molecular function or biological process has been experimentally validated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMIM20 Knockout HEK293 Cell Line | EDJ-KQ15381 | Human | 389203 | Details Get a Quote |
| SMIM20 Knockout A-549 Cell Line | EDJ-KQ46125 | Human | 389203 | Details Get a Quote |
| SMIM20 Knockout HCT 116 Cell Line | EDJ-KQ46126 | Human | 389203 | Details Get a Quote |
| SMIM20 Knockout HeLa Cell Line | EDJ-KQ46127 | Human | 389203 | Details Get a Quote |
