HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TTC23
tetratricopeptide repeat domain 23
Chromosome 15 · 15q26.3
NCBI Gene: 64927Ensembl: ENSG00000103852.14HGNC: HGNC:25730UniProt: Q5W5X9
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of smoothened signaling pathwayciliumAbruptio Placentaevertebral column disorderAbnormality of the skeletal systemplacental retention
✦AI Summary

TTC23 is a tetratricopeptide repeat domain protein that functions in ciliary Hedgehog signaling and cilium biology. TTC23 positively regulates smoothened signaling pathway and participates in protein binding within ciliary structures 1. As a ciliary protein, TTC23 variants are implicated in ciliopathies, a heterogeneous class of disorders affecting primary cilium function; functional assays on patient-derived fibroblasts support TTC23's role in ciliary pathology 1. Beyond ciliary function, TTC23 has been identified in cancer genomics contexts, including as part of a novel IGF1R/TTC23 fusion transcript in bladder cancer 2 and in alternative splicing changes during hypoxic stress in prostate cancer cells 3. Recent evidence indicates TTC23 functions downstream of BATF2 transcription factor in macrophages infected with Mycobacterium tuberculosis, where it regulates immune cell proliferation and antibacterial capacity through the Wnt/β-catenin pathway; elevated TTC23 expression correlates with pulmonary tuberculosis 4. Additionally, TTC23 methylation patterns associate with opioid medication use 5 and tinnitus 6, suggesting epigenetic regulation. The protein represents a multifunctional molecule with primary significance in ciliary Hedgehog signaling while showing emerging importance in immune response and disease-associated epigenetic modifications.

Sources cited
1
TTC23 is a candidate gene for ciliopathies supported by functional assays in patient-derived fibroblasts
PMID: 32055034
2
TTC23 is part of a novel IGF1R/TTC23 fusion transcript identified in bladder cancer samples
PMID: 26898937
3
TTC23 exon inclusion rate changes significantly (>25%) under hypoxic conditions in prostate cancer cells
PMID: 29606096
4
BATF2 regulates TTC23 through Wnt/β-catenin pathway to control macrophage function during Mycobacterium tuberculosis infection; TTC23 expression is elevated in pulmonary tuberculosis patients
PMID: 39672395
5
TTC23 shows differential DNA methylation associated with opioid medication use in population-based cohorts
PMID: 36700736
6
TTC23 is within a hypermethylated differentially methylated region associated with tinnitus in young adults
PMID: 39147981
Disease Associationsⓘ20
Abruptio PlacentaeOpen Targets
0.35Weak
vertebral column disorderOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.28Weak
placental retentionOpen Targets
0.26Weak
inherited hemoglobinopathyOpen Targets
0.24Weak
acute cystitisOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
pulmonary arterial hypertensionOpen Targets
0.00Suggestive
urinary bladder carcinomaOpen Targets
0.00Suggestive
pulmonary tuberculosisOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
colon adenocarcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
colorectal cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SCUBE2Shared pathway100%IQCEProtein interaction70%PDCLShared pathway50%ARMC9Shared pathway50%TXNDC15Shared pathway50%HHATShared pathway50%
Tissue Expression6 tissues
Ovary
100%
Liver
75%
Heart
73%
Lung
49%
Brain
24%
Bone Marrow
9%
Gene Interaction Network
Click a node to explore
TTC23SCUBE2IQCEPDCLARMC9TXNDC15HHAT
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5W5X9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.27LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.83–1.27]
RankingsWhere TTC23 stands among ~20K protein-coding genes
  • #13,558of 20,598
    Most Researched23
  • #13,407of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedTTC23
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
The morbid genome of ciliopathies: an update.
PMID: 32055034
Genet Med · 2020
1.00
2
Opioid medication use and blood DNA methylation: epigenome-wide association meta-analysis.
PMID: 36700736
Epigenomics · 2022
0.86
3
Novel fusion transcripts in bladder cancer identified by RNA-seq.
PMID: 26898937
Cancer Lett · 2016
0.71
4
Multi-CpG linear regression models to accurately predict paclitaxel and docetaxel activity in cancer cell lines.
PMID: 36990534
Adv Cancer Res · 2023
0.57
5
DNA Methylation Patterns Associated with Tinnitus in Young Adults-A Pilot Study.
PMID: 39147981
J Assoc Res Otolaryngol · 2024
0.43