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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TTC17
tetratricopeptide repeat domain 17
Chromosome 11 · 11p12-p11.2
NCBI Gene: 55761Ensembl: ENSG00000052841.16HGNC: HGNC:25596UniProt: A0A994J3X0
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingactin filament polymerizationcilium organizationcytoplasmIschemic strokecoronary artery diseasevenous thromboembolismovarian neoplasm
✦AI Summary

TTC17 (tetratricopeptide repeat domain 17) is a tetratricopeptide repeat-containing protein that plays crucial roles in both ciliogenesis and protein trafficking within the secretory pathway. The protein localizes to the endoplasmic reticulum and functions as an adaptor protein, interacting with various chaperones and cochaperones involved in protein folding, quality control, and maturation processes 1. TTC17 modulates actin polymerization and is essential for primary ciliogenesis, working in conjunction with C2orf62 to regulate these processes 2. Loss of TTC17 function disrupts actin organization, reduces primary cilia formation, and causes defects in Golgi polarization leading to glycosylation abnormalities 23. Clinically, TTC17 variants are associated with biliary atresia, particularly in patients with laterality defects, supporting its role as a ciliopathy gene 4. Additionally, homozygous mutations in TTC17 cause oligoteratoasthenozoospermia, a male infertility condition characterized by poor sperm quality, quantity, and motility, with affected sperm showing axoneme abnormalities and disrupted F-actin distribution 5. The protein's upregulation during ER stress and its interaction with secretory pathway components highlight its importance in maintaining cellular homeostasis 1.

Sources cited
1
TTC17 is an ER-localized adaptor protein that interacts with chaperones and is upregulated by ER stress
PMID: 37949225
2
TTC17 works with C2orf62 to regulate actin polymerization and primary ciliogenesis
PMID: 24475127
3
TTC17 knockdown alters Golgi polarization and causes glycosylation defects
PMID: 31488582
4
TTC17 variants are associated with biliary atresia, particularly with laterality defects
PMID: 41405813
5
Homozygous TTC17 mutations cause oligoteratoasthenozoospermia with sperm axoneme abnormalities
PMID: 32503832
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.33Weak
Ischemic strokeOpen Targets
0.33Weak
venous thromboembolismOpen Targets
0.33Weak
ovarian neoplasmOpen Targets
0.28Weak
response to xenobiotic stimulusOpen Targets
0.26Weak
hypertrophic cardiomyopathyOpen Targets
0.20Weak
esophageal squamous cell carcinomaOpen Targets
0.09Suggestive
mathematical abilityOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
smoking initiationOpen Targets
0.07Suggestive
preeclampsiaOpen Targets
0.07Suggestive
Loss of consciousnessOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
Abnormality of refractionOpen Targets
0.05Suggestive
deficiency anemiaOpen Targets
0.05Suggestive
osteoporosisOpen Targets
0.05Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
age related macular degeneration 2Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CATIPShared pathway71%TSGA10IPShared pathway50%FAM161BShared pathway50%CFAP126Shared pathway33%FAM161AShared pathway33%ARMC2Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
86%
Liver
78%
Lung
70%
Heart
44%
Brain
24%
Gene Interaction Network
Click a node to explore
TTC17CATIPTSGA10IPFAM161BCFAP126FAM161AARMC2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q49A97
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.48Moderately Constrained
pLIⓘ
0.97Intolerant
Observed/Expected LoF0.38 [0.30–0.48]
RankingsWhere TTC17 stands among ~20K protein-coding genes
  • #9,153of 20,598
    Most Researched48
  • #2,815of 17,882
    Most Constrained (LOEUF)0.48 · top quartile
Genes detectedTTC17
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
C2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and human.
PMID: 24475127
PLoS One · 2014
1.00
2
New factors for protein transport identified by a genome-wide CRISPRi screen in mammalian cells.
PMID: 31488582
J Cell Biol · 2019
0.90
3
Another ciliopathy? Uncovering the ciliary basis of biliary atresia.
PMID: 41405813
Hepatol Int · 2025
0.80
4
TTC17 is an endoplasmic reticulum resident TPR-containing adaptor protein.
PMID: 37949225
J Biol Chem · 2023
0.70
5
Circ-TTC17 Promotes Proliferation and Migration of Esophageal Squamous Cell Carcinoma.
PMID: 30519852
Dig Dis Sci · 2019
0.60