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GeneE
1 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.
CFC1B
cryptic, EGF-CFC family member 1B
Chromosome 2 Β· 2q21.1
NCBI Gene: 653275Ensembl: ENSG00000152093.8HGNC: HGNC:33983UniProt: P0CG36
2PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell surfaceactivin receptor bindingblood vessel developmentnodal bindingHeterotaxiaheterotaxy, visceral, 12, autosomalvisceral heterotaxyright atrial isomerism
✦AI Summary

CFC1B is an EGF-CFC family member involved in developmental signaling pathways. Based on limited published evidence, CFC1B functions in nodal signaling and binds activin receptors, playing roles in anterior/posterior pattern specification, left/right symmetry determination, heart development, and blood vessel formation. The protein localizes to the cell surface and extracellular region. CFC1B promoter methylation status shows significant correlation with mRNA expression levels and has been associated with Tetralogy of Fallot, a congenital heart defect 1, suggesting epigenetic dysregulation may contribute to cardiac developmental abnormalities.

Sources cited
1
CFC1B promoter methylation status significantly correlates with mRNA expression levels in Tetralogy of Fallot cases, suggesting epigenetic involvement in congenital heart defect pathogenesis
PMID: 24479926
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
HeterotaxiaOpen Targets
0.09Suggestive
heterotaxy, visceral, 12, autosomalOpen Targets
0.08Suggestive
visceral heterotaxyOpen Targets
0.08Suggestive
Ivemark syndromeOpen Targets
0.08Suggestive
right atrial isomerismOpen Targets
0.08Suggestive
ciliary dyskinesia, primary, 52Open Targets
0.07Suggestive
Congenitally uncorrected transposition of the great arteriesOpen Targets
0.07Suggestive
congenital heart defects, multiple types, 6Open Targets
0.07Suggestive
ciliary dyskinesia, primary, 53Open Targets
0.07Suggestive
congenital heart diseaseOpen Targets
0.06Suggestive
heterotaxy, visceral, 5, autosomalOpen Targets
0.06Suggestive
tricuspid atresiaOpen Targets
0.06Suggestive
scimitar syndromeOpen Targets
0.06Suggestive
heterotaxy, visceral, 9, autosomal, with male infertilityOpen Targets
0.06Suggestive
congenital heart defects, multiple types, 4Open Targets
0.06Suggestive
congenital heart malformationOpen Targets
0.06Suggestive
persistent truncus arteriosusOpen Targets
0.06Suggestive
Truncus arteriosusOpen Targets
0.06Suggestive
Meacham syndromeOpen Targets
0.06Suggestive
heterotaxy, visceral, 1, X-linkedOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CRIPTO3Shared pathway100%CFC1Shared pathway100%NEK8Shared pathway25%DAW1Shared pathway22%CRIPTOShared pathway20%SMYD4Shared pathway20%
Tissue Expression6 tissues
Ovary
0%
Liver
0%
Heart
0%
Brain
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
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CFC1BCRIPTO3CFC1NEK8DAW1CRIPTOSMYD4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt P0CG36
View on AlphaFold β†—
RankingsWhere CFC1B stands among ~20K protein-coding genes
  • #19,096of 20,598
    Most Researched2
Genes detectedCFC1B
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Association of promoter methylation statuses of congenital heart defect candidate genes with Tetralogy of Fallot.
PMID: 24479926
J Transl Med Β· 2014
1.00