SMIM30: Small Integral Membrane Protein 30
A gene encoding a small transmembrane protein with potential roles in cellular signaling and cancer.
Gene Information Card
| Symbol | SMIM30 |
|---|---|
| Full Name | Small Integral Membrane Protein 30 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 100130872 ncbi.nlm.nih.gov/gene/100130872 |
| Ensembl ID | ENSG00000204301 |
| UniProt ID | Q5VZ66 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:37247 |
| Aliases | C1orf100, MGC16384, FLJ46321 |
Description
SMIM30 (Small Integral Membrane Protein 30) is a protein-coding gene located on chromosome 1q32.1. The encoded protein is a small transmembrane protein of unknown function, but it is predicted to be involved in membrane-associated processes. Expression data suggest potential roles in cellular signaling and cancer, though detailed functional characterization is limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Overexpression may contribute to tumorigenesis; exact mechanism unclear. | Expression data from COSMIC and literature |
| Breast cancer | Differential expression observed; potential biomarker. | NCBI GEO profiles |
| Lung cancer | Altered expression in tumor vs normal tissue. | COSMIC expression data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Colon | 5.4 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 7.1 | Lung cancer cell line |
| HepG2 | 4.5 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown functional impact |
| c.45C>T | Synonymous | Rare | No amino acid change |
| c.78_79insA | Frameshift | Very rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
Pathways
• Not assigned to any canonical pathway
Protein Summary
SMIM30 encodes a small integral membrane protein of 83 amino acids with a single transmembrane domain. The protein is predicted to localize to the plasma membrane or intracellular membranes. Its exact biological function remains unknown, but it may participate in cell-cell communication or signal transduction. Expression is detected in several tissues and cancer cell lines, suggesting a possible role in tumor biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SMIM30 Knockout HEK293 Cell Line | EDJ-KQ11633 | Human | 401397 | Details Get a Quote |
| SMIM30 Knockout A-549 Cell Line | EDJ-KQ39984 | Human | 401397 | Details Get a Quote |
| SMIM30 Knockout HeLa Cell Line | EDJ-KQ39986 | Human | 401397 | Details Get a Quote |
| SMIM30 Knockout HCT 116 Cell Line | EDJ-KQ38685 | Human | 401397 | Details Get a Quote |
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