TMEM95
Transmembrane Protein 95
Gene Information Card
| Symbol | TMEM95 |
|---|---|
| Full Name | transmembrane protein 95 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 645722 ncbi.nlm.nih.gov/gene/645722 |
| Ensembl ID | ENSG00000187735 |
| UniProt ID | Q6ZUT3 |
| OMIM ID | 619191 |
| HGNC ID | 37223 |
| Aliases | MGC35130 |
Description
TMEM95 (transmembrane protein 95) is a protein-coding gene located on chromosome 17p13.1. The encoded protein is a transmembrane protein with unknown function. Expression data suggest it may be involved in spermatogenesis, as it is predominantly expressed in testis. Limited functional studies are available.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Potential role in spermatogenesis; loss-of-function variants associated with reduced fertility | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 2.1 | Low |
| Prostate | 1.8 | Low |
| Thyroid | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.5 | Low expression |
| K562 | 0.3 | Low expression |
| HeLa | 0.4 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown effect |
| c.100C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense variants may lead to loss of function; associated with male infertility.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data:
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • plasma membrane (GO:0005886) |
Protein Summary
TMEM95 is a 214-amino acid transmembrane protein with a single transmembrane domain. Its exact function is unknown, but it is predicted to localize to the plasma membrane. Expression is enriched in testis, suggesting a role in male reproductive biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM95 Knockout HEK293 Cell Line | EDJ-KQ15785 | Human | 339168 | Details Get a Quote |
| TMEM95 Knockout HeLa Cell Line | EDJ-KQ59632 | Human | 339168 | Details Get a Quote |
| TMEM95 Knockout A-549 Cell Line | EDJ-KQ68099 | Human | 339168 | Details Get a Quote |
| TMEM95 Knockout HCT 116 Cell Line | EDJ-KQ76473 | Human | 339168 | Details Get a Quote |
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