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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TTC27
tetratricopeptide repeat domain 27
Chromosome 2 Β· 2p22.3
NCBI Gene: 55622Ensembl: ENSG00000018699.14HGNC: HGNC:25986UniProt: B4DRC7
65PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingskin diseaseovarian dysfunctionbone remodeling diseaseandrogenetic alopecia
✦AI Summary

TTC27 is a tetratricopeptide repeat (TPR) domain-containing protein that functions in cell fate determination and stem cell regulation. In C. elegans, the TTC27 homolog TRD-1 is essential for proper cell fate choice in both the germline and developing epidermis, acting downstream of tra-2 but upstream of fem-3 in sex determination pathways 1. The protein exhibits roles in regulating the mitosis-to-meiosis transition and maintaining appropriate seam cell identity, with loss-of-function resulting in inappropriate cellular differentiation 1. Comparative transcriptomic analysis across planarians, mice, and humans identified TTC27 among conserved stem cell regulators critical for tissue homeostasis, regeneration, and stem cell maintenance 2. In human neurobiology, TTC27 has been associated with white matter hyperintensities (WMH) through genome-wide association studies, with SNP variants showing significant associations in multiple populations 3. These findings suggest TTC27 plays conserved roles in developmental cell fate determination and stem cell biology, with potential relevance to neurological phenotypes in Alzheimer's disease-related brain changes. However, the precise molecular mechanisms by which TTC27 executes these functions remain to be fully elucidated.

Sources cited
1
TTC27 homolog TRD-1 is essential for cell fate determination in germline and epidermis, acts in sex determination pathway, and affects mitosis-meiosis transition
PMID: 25493563
2
TTC27 identified as conserved stem cell regulator affecting tissue homeostasis, regeneration, and stem cell maintenance across multiple species
PMID: 22696458
3
TTC27 SNP variants show significant association with white matter hyperintensities in Alzheimer's disease-related neuroimaging phenotypes
PMID: 22745009
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
skin diseaseOpen Targets
0.33Weak
ovarian dysfunctionOpen Targets
0.32Weak
bone remodeling diseaseOpen Targets
0.32Weak
androgenetic alopeciaOpen Targets
0.28Weak
seborrheic keratosisOpen Targets
0.25Weak
Abnormal male internal genitalia morphologyOpen Targets
0.25Weak
hypogonadismOpen Targets
0.17Weak
risk-taking behaviourOpen Targets
0.14Weak
neuromuscular diseaseOpen Targets
0.12Weak
intelligenceOpen Targets
0.10Suggestive
smoking initiationOpen Targets
0.09Suggestive
mathematical abilityOpen Targets
0.09Suggestive
liver diseaseOpen Targets
0.07Suggestive
Abnormality of skin pigmentationOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
osteoarthritis, kneeOpen Targets
0.04Suggestive
diverticular diseaseOpen Targets
0.04Suggestive
osteoarthritis, hipOpen Targets
0.04Suggestive
attention deficit hyperactivity disorderOpen Targets
0.04Suggestive
bacterial diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
HEATR1Protein interaction100%TBL3Protein interaction100%WDR36Protein interaction100%PWP2Protein interaction100%WDR3Protein interaction100%NAT10Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Ovary
98%
Bone Marrow
90%
Lung
69%
Liver
61%
Brain
51%
Gene Interaction Network
Click a node to explore
TTC27HEATR1TBL3WDR36PWP2WDR3NAT10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6P3X3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.51–0.77]
RankingsWhere TTC27 stands among ~20K protein-coding genes
  • #7,216of 20,598
    Most Researched65
  • #6,271of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedTTC27
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Multiple loci influencing hippocampal degeneration identified by genome scan.
PMID: 22745009
Ann Neurol Β· 2012
1.00
2
The C. elegans TPR Containing Protein, TRD-1, Regulates Cell Fate Choice in the Developing Germ Line and Epidermis.
PMID: 25493563
PLoS One Β· 2014
0.67
3
A comparative transcriptomic analysis reveals conserved features of stem cell pluripotency in planarians and mammals.
PMID: 22696458
Stem Cells Β· 2012
0.33