TM7SF3 Gene
Transmembrane 7 Superfamily Member 3
Gene Information Card
| Symbol | TM7SF3 |
|---|---|
| Full Name | Transmembrane 7 Superfamily Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 51768 ncbi.nlm.nih.gov/gene/51768 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q9Y2Z6 |
| OMIM ID | 617309 |
| HGNC ID | 11861 |
| Aliases | MGC10731, FLJ10842 |
Description
TM7SF3 encodes a transmembrane protein belonging to the 7-transmembrane superfamily. The protein is predicted to localize to cellular membranes and may be involved in cell signaling or transport processes. Expression data suggest broad tissue distribution with highest levels in the brain and testis. Limited functional studies are available, and the gene is not currently associated with specific Mendelian disorders in OMIM.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence in OMIM or ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.5 | Moderate expression |
| HeLa | 6.0 | Low expression |
| K562 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Trp) | missense | <0.01% (gnomAD) | Unknown functional effect |
| c.456G>A (p.Thr152=) | synonymous | 0.02% (gnomAD) | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
Protein Summary
TM7SF3 is a 7-transmembrane domain protein of unknown function. It is predicted to be an integral membrane protein with no known enzymatic activity. Structural predictions suggest similarity to G-protein coupled receptors, but no ligand or signaling pathway has been identified. The protein is conserved in vertebrates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TM7SF3 Knockout HEK293 Cell Line | EDJ-KQ11219 | Human | 51768 | Details Get a Quote |
| TM7SF3 Knockout HeLa Cell Line | EDJ-KQ37963 | Human | 51768 | Details Get a Quote |
| TM7SF3 Knockout A-549 Cell Line | EDJ-KQ39287 | Human | 51768 | Details Get a Quote |
| TM7SF3 Knockout HCT 116 Cell Line | EDJ-KQ39288 | Human | 51768 | Details Get a Quote |
