HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 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.
CCDC141
coiled-coil domain containing 141
Chromosome 2 · 2q31.2
NCBI Gene: 285025Ensembl: ENSG00000163492.16HGNC: HGNC:26821UniProt: B8ZZB3
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingheterophilic cell-cell adhesionregulation of synapse assemblyplasma membraneconduction system disorderartificial cardiac pacemakeratrioventricular blockComplete right bundle branch block
✦AI Summary

CCDC141 is a multifunctional coiled-coil protein with critical roles in embryonic development, cardiac function, and neurological processes. During early development, CCDC141 regulates left-right axis formation by controlling cilia function in the Kupffer's vesicle through HDAC6-mediated α-tubulin acetylation 1. In the heart, CCDC141 functions as a mechanoadaptive factor by interacting with the sarcomeric connectin/titin filament system and nuclear envelope protein nesprin-1 at costameres 2. CCDC141 deletion impairs cardiomyocyte mitochondrial function and increases susceptibility to heart failure under pressure overload, with stress-induced nuclear relocalization suggesting a role in maintaining nuclear integrity 2. Genetically, CCDC141 variants associate with multiple cardiac arrhythmias including accessory atrioventricular pathways, supraventricular tachycardia, and sinus node dysfunction 345. Epistatic interactions between CCDC141, TTN, and IGF1R regulate cardiac hypertrophy 6. Beyond cardiology, CCDC141 mutations associate with laterality defects and restless legs syndrome in migraineurs, implicating roles in dopaminergic neural development 7. These findings position CCDC141 as a therapeutic target for cardiac mechanoadaptation and arrhythmia management.

Sources cited
1
CCDC141 regulates left-right axis development through cilia formation and HDAC6-mediated α-tubulin acetylation control
PMID: 39047937
2
CCDC141 is a mechanoadaptive protein binding titin and nesprin-1, critical for cardiomyocyte adaptation to mechanical stress and prevention of heart failure
PMID: 41298937
3
CCDC141 variants associate with accessory atrioventricular pathways and supraventricular tachycardia risk
PMID: 39230897
4
CCDC141 locus associates with atrioventricular accessory pathways and reciprocating tachycardia in genome-wide meta-analysis
PMID: 38804128
5
CCDC141 is a shared genetic locus for sinus node dysfunction and distal conduction disease
PMID: 39747593
6
CCDC141 participates in epistatic interactions with TTN and IGF1R regulating cardiac hypertrophy
PMID: 40473955
7
CCDC141 variants associate with restless legs syndrome in migraineurs; knockdown reduces dopaminergic amacrine cells in zebrafish
PMID: 35350973
8
CCDC141/TTN locus associates with atherogenic index of plasma in lipid metabolism
PMID: 37372394
Disease Associationsⓘ20
conduction system disorderOpen Targets
0.46Moderate
artificial cardiac pacemakerOpen Targets
0.46Moderate
atrioventricular blockOpen Targets
0.45Moderate
Complete right bundle branch blockOpen Targets
0.45Moderate
hypertrophic cardiomyopathyOpen Targets
0.45Moderate
TachycardiaOpen Targets
0.44Moderate
atrial fibrillationOpen Targets
0.41Moderate
heart conduction diseaseOpen Targets
0.40Moderate
bundle branch blockOpen Targets
0.40Moderate
Paroxysmal supraventricular tachycardiaOpen Targets
0.38Weak
Kallmann syndromeOpen Targets
0.37Weak
Abruptio PlacentaeOpen Targets
0.32Weak
tooth diseaseOpen Targets
0.29Weak
alcohol drinkingOpen Targets
0.29Weak
smoking cessationOpen Targets
0.28Weak
schizophreniaOpen Targets
0.26Weak
phototoxic dermatitisOpen Targets
0.24Weak
bronchial diseaseOpen Targets
0.19Weak
congenital hypogonadotropic hypogonadismOpen Targets
0.19Weak
hypogonadotropic hypogonadismOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DISC1Protein interaction90%TTNProtein interaction80%LSAMPShared pathway50%IGLON5Shared pathway50%OPCMLShared pathway40%NTMShared pathway40%
Tissue Expression6 tissues
Heart
100%
Lung
2%
Bone Marrow
1%
Brain
1%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
CCDC141DISC1TTNLSAMPIGLON5OPCMLNTM
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZP82
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.79–1.05]
RankingsWhere CCDC141 stands among ~20K protein-coding genes
  • #13,381of 20,598
    Most Researched23
  • #10,539of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedCCDC141
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ccdc141 is required for left-right axis development by regulating cilia formation in the Kupffer's vesicle of zebrafish.
PMID: 39047937
J Genet Genomics · 2024
1.00
2
The impact of common and rare genetic variants on bradyarrhythmia development.
PMID: 39747593
Nat Genet · 2025
0.90
3
Epistasis regulates genetic control of cardiac hypertrophy.
PMID: 40473955
Nat Cardiovasc Res · 2025
0.80
4
PMID: 20301509
0.70
5
Genome-Wide Association Study of Accessory Atrioventricular Pathways.
PMID: 39230897
JAMA Cardiol · 2024
0.60