TMEM190: Transmembrane Protein 190
A small transmembrane protein with potential roles in ciliary function and spermatogenesis
Gene Information Card
| Symbol | TMEM190 |
|---|---|
| Full Name | Transmembrane Protein 190 |
| Gene Type | Protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 147808 ncbi.nlm.nih.gov/gene/147808 |
| Ensembl ID | ENSG00000183091 |
| UniProt ID | Q6ZP80 |
| OMIM ID | 617447 |
| HGNC ID | 28429 |
| Aliases | C19orf36, FLJ39616 |
Description
TMEM190 (Transmembrane Protein 190) is a protein-coding gene located on chromosome 19q13.42. The encoded protein contains a single transmembrane domain and is predicted to localize to cilia or flagella. TMEM190 is highly expressed in testis and is implicated in spermatogenesis and ciliary function. Limited functional studies suggest a role in male fertility and possibly in ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Potential role in sperm flagellar assembly; loss of TMEM190 may impair sperm motility | Inferred from expression and homology; no direct clinical evidence in OMIM or ClinVar |
| Ciliopathy (general) | TMEM190 localizes to cilia; disruption may affect ciliary signaling | Predicted based on protein localization and interaction data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 3.2 | Low |
| Brain (cerebellum) | 2.1 | Low |
| Kidney | 1.8 | Low |
| Lung | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.5 | Low expression |
| HeLa | 0.3 | Low expression |
| K562 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane (GO:0016021) | • cilium (GO:0005929) |
| • spermatid development (GO:0007286) |
Pathways
• No specific pathways curated in Reactome or KEGG for TMEM190.
Protein Summary
TMEM190 is a small transmembrane protein (approximately 190 amino acids) with a single predicted transmembrane helix. It is localized to cilia and flagella, suggesting a role in microtubule-based structures. The protein is highly conserved in vertebrates and is predominantly expressed in testis, consistent with a function in sperm flagellum formation or motility. No crystal structure is available; functional characterization remains limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM190 Knockout HEK293 Cell Line | EDJ-KQ10660 | Human | 147744 | Details Get a Quote |
| TMEM190 Knockout HeLa Cell Line | EDJ-KQ58586 | Human | 147744 | Details Get a Quote |
| TMEM190 Knockout A-549 Cell Line | EDJ-KQ67073 | Human | 147744 | Details Get a Quote |
| TMEM190 Knockout HCT 116 Cell Line | EDJ-KQ75477 | Human | 147744 | Details Get a Quote |
