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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TANC1
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1
Chromosome 2 · 2q24.2
NCBI Gene: 85461Ensembl: ENSG00000115183.16HGNC: HGNC:29364UniProt: B9EK39
71PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of postsynapse organizationglutamatergic synapsepostsynaptic density, intracellular componentneurodegenerative diseaseresponse to radiationbilirubin metabolism diseaseknee fracture
✦AI Summary

TANC1 is a scaffold protein containing tetratricopeptide, ankyrin, and coiled-coil domains that functions primarily in synaptic regulation and myoblast biology. In the nervous system, TANC1 acts as a postsynaptic density component regulating excitatory synapse strength and synaptic spine density 1. In muscle development, TANC1 is essential for myoblast fusion; its ectopic expression blocks myogenic differentiation while suppressing TANC1 restores both fusion and terminal differentiation 2. Disease relevance spans multiple pathologies. In rhabdomyosarcoma, the PAX-FOXO1 fusion oncoprotein upregulates TANC1 to block myoblast fusion and promote neoplastic transformation; reducing TANC1 expression reverses this phenotype 2. TANC1 variants are implicated in neurodevelopmental disorders as a candidate gene 1, with cancer-associated mutations dramatically decreasing protein solubility and stability 1. A TANC1::YY1AP1 fusion has been identified in salivary gland intraductal carcinoma 3. Clinically, TANC1 genetic variants associate with late radiation-induced toxicity in prostate cancer patients 4, likely reflecting its role in muscle regeneration and repair. TANC1 methylation serves as a diagnostic biomarker for anti-tuberculosis drug-induced liver injury 5. TANC1 genetic profiling may inform personalized radiotherapy strategies, particularly in indigenous populations 6.

Sources cited
1
TANC1 is essential for myoblast fusion; PAX-FOXO1 upregulates TANC1 to block differentiation and promote rhabdomyosarcoma
PMID: 22182840
2
TANC1 functions as a synaptic scaffold protein regulating excitatory synapse strength and spine density; identified as candidate gene in neurodevelopmental disorders; cancer mutations decrease protein solubility
PMID: 31040020
3
TANC1::YY1AP1 fusion identified in salivary gland intraductal carcinoma
PMID: 38935197
4
TANC1 locus associated with late radiation-induced toxicity in prostate cancer; role in muscle regeneration
PMID: 24974847
5
Hypermethylated TANC1 CpG sites serve as diagnostic biomarker for anti-tuberculosis drug-induced liver injury
PMID: 34465797
6
TANC1 is an important gene for radiogenomics and personalized medicine in radiotherapy
PMID: 38793065
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.40Moderate
response to radiationOpen Targets
0.30Weak
bilirubin metabolism diseaseOpen Targets
0.28Weak
knee fractureOpen Targets
0.26Weak
femoral neck fractureOpen Targets
0.25Weak
device complicationOpen Targets
0.23Weak
ovarian dysfunctionOpen Targets
0.20Weak
peritonitisOpen Targets
0.19Weak
gastrointestinal diseaseOpen Targets
0.18Weak
Intellectual disabilityOpen Targets
0.11Weak
alcohol drinkingOpen Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
migraine with auraOpen Targets
0.02Suggestive
diabetic ketoacidosisOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
joint diseaseOpen Targets
0.02Suggestive
oropharynx cancerOpen Targets
0.02Suggestive
lymphomaOpen Targets
0.02Suggestive
astrocytomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AGAP3Protein interaction99%INAProtein interaction80%DLG4Protein interaction72%DLG1Protein interaction72%DLGAP1Protein interaction72%LRFN2Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Lung
46%
Ovary
30%
Liver
18%
Brain
10%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
TANC1AGAP3INADLG4DLG1DLGAP1LRFN2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9C0D5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.44–0.65]
RankingsWhere TANC1 stands among ~20K protein-coding genes
  • #6,682of 20,598
    Most Researched71
  • #4,686of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedTANC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Drosophila and mammalian models uncover a role for the myoblast fusion gene TANC1 in rhabdomyosarcoma.
PMID: 22182840
J Clin Invest · 2012
1.00
2
Pure Apocrine Intraductal Carcinoma of Salivary Glands: Reassessment of Molecular Underpinnings and Behavior.
PMID: 38935197
Head Neck Pathol · 2024
0.90
3
Purification and mutagenesis studies of TANC1 ankyrin repeats domain provide clues to understand mis-sense variants from diseases.
PMID: 31040020
Biochem Biophys Res Commun · 2019
0.80
4
Exploring prognostic biomarkers in pathological images of colorectal cancer patients via deep learning.
PMID: 39343999
J Pathol Clin Res · 2024
0.70
5
TANC1 methylation as a novel biomarker for the diagnosis of patients with anti-tuberculosis drug-induced liver injury.
PMID: 34465797
Sci Rep · 2021
0.60