TMEM17: Transmembrane Protein 17
A ciliary protein involved in Hedgehog signaling and associated with Joubert syndrome
Gene Information Card
| Symbol | TMEM17 |
|---|---|
| Full Name | Transmembrane Protein 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p15 |
| NCBI Gene ID | 200728 ncbi.nlm.nih.gov/gene/200728 |
| Ensembl ID | ENSG00000162992 |
| UniProt ID | Q8N6L1 |
| OMIM ID | 614154 |
| HGNC ID | 28399 |
| Aliases | MGC10731, FLJ22662 |
Description
TMEM17 encodes a transmembrane protein localized to cilia and centrosomes. It is essential for ciliogenesis and Hedgehog signaling, acting as a positive regulator of the pathway. Mutations in TMEM17 are associated with Joubert syndrome, a ciliopathy characterized by cerebellar vermis hypoplasia, intellectual disability, and retinal dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | Loss of TMEM17 disrupts ciliary function and Hedgehog signaling, leading to developmental defects | OMIM #614154; PMID: 25920555 |
| Meckel syndrome | Potential involvement due to ciliary dysfunction, though direct evidence is limited | ClinVar; PMID: 25920555 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Kidney | 6.1 | Low |
| Lung | 4.3 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 8.7 | Moderate expression |
| HepG2 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.295C>T (p.Arg99*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.434G>A (p.Arg145Gln) | Missense | Rare | Likely damaging; disrupts ciliary localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent protein, impairing ciliogenesis and Hedgehog signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Cilium | • Centrosome |
| • Cytoplasm | • Protein binding |
| • Hedgehog signaling pathway | • Cell projection |
Pathways
• Hedgehog signaling pathway
• Ciliogenesis
Protein Summary
TMEM17 is a 17 kDa transmembrane protein with a single transmembrane domain. It localizes to the base of cilia and centrosomes, where it interacts with other ciliary proteins to regulate ciliogenesis and Hedgehog signaling. The protein is essential for proper embryonic development and its dysfunction leads to ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM176B Knockout HEK293 Cell Line | EDJ-KQ2352 | Human | 28959 | Details Get a Quote |
| TMEM175 Knockout HEK293 Cell Line | EDJ-KQ3394 | Human | 84286 | Details Get a Quote |
| TMEM178A Knockout HEK293 Cell Line | EDJ-KQ3449 | Human | 130733 | Details Get a Quote |
| TMEM17 Knockout HEK293 Cell Line | EDJ-KQ4586 | Human | 200728 | Details Get a Quote |
| TMEM170A Knockout HEK293 Cell Line | EDJ-KQ8569 | Human | 124491 | Details Get a Quote |
| TMEM171 Knockout HEK293 Cell Line | EDJ-KQ9336 | Human | 134285 | Details Get a Quote |
| TMEM174 Knockout HEK293 Cell Line | EDJ-KQ9337 | Human | 134288 | Details Get a Quote |
| TMEM177 Knockout HEK293 Cell Line | EDJ-KQ9575 | Human | 80775 | Details Get a Quote |
| TMEM178B Knockout HEK293 Cell Line | EDJ-KQ12026 | Human | 100507421 | Details Get a Quote |
| TMEM179B Knockout HEK293 Cell Line | EDJ-KQ12234 | Human | 374395 | Details Get a Quote |
| TMEM170B Knockout HEK293 Cell Line | EDJ-KQ15805 | Human | 100113407 | Details Get a Quote |
| TMEM179 Knockout HEK293 Cell Line | EDJ-KQ15806 | Human | 388021 | Details Get a Quote |
| TMEM176A Knockout HeLa Cell Line | EDJ-KQ17946 | Human | 55365 | Details Get a Quote |
| TMEM175 Knockout A-549 Cell Line | EDJ-KQ25087 | Human | 84286 | Details Get a Quote |
| TMEM175 Knockout HCT 116 Cell Line | EDJ-KQ25088 | Human | 84286 | Details Get a Quote |
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