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GeneE
10 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.
CFC1
cryptic, EGF-CFC family member 1
Chromosome 2 Β· 2q21.1
NCBI Gene: 55997Ensembl: ENSG00000136698.10HGNC: HGNC:18292UniProt: A0A087WWV2
25PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nodal signaling pathwaynodal bindingblood vessel developmentdetermination of left/right symmetryHeterotaxiaconotruncal heart malformationsgenetic disorderheterotaxy, visceral, 12, autosomal
✦AI Summary

CFC1 (cryptic, EGF-CRC family member 1) functions as a NODAL coreceptor essential for establishing proper left-right axis determination during embryonic development. The protein plays a critical role in NODAL signaling pathways that control mesoderm and neural patterning during gastrulation. CFC1 mutations have been identified as causes of ventricular septal defects (VSDs), one of the most common congenital heart diseases 1. The gene is particularly associated with heterotaxy syndromes, where patients exhibit abnormal left-right body asymmetry affecting multiple organ systems. While CFC1 itself is not directly part of the RAS-MAPK pathway, it functions alongside other signaling molecules that contribute to cardiac development 1. Mutations in CFC1 represent part of the broader genetic heterogeneity observed in congenital heart defects, particularly those involving transcription factors and signaling molecules critical for cardiac morphogenesis. The clinical significance of CFC1 mutations extends beyond isolated cardiac malformations, as they can cause complex syndromic presentations involving multiple organ systems. However, the provided abstracts contain limited specific mechanistic details about CFC1's molecular function, focusing primarily on RASopathies rather than CFC1-specific pathways.

Sources cited
1
CFC1 mutations are associated with ventricular septal defects and are among genes encoding signaling molecules frequently found in VSD cases
PMID: 38884729
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
HeterotaxiaOpen Targets
0.72Strong
conotruncal heart malformationsOpen Targets
0.38Weak
genetic disorderOpen Targets
0.18Weak
heterotaxy, visceral, 12, autosomalOpen Targets
0.08Suggestive
right atrial isomerismOpen Targets
0.08Suggestive
visceral heterotaxyOpen Targets
0.08Suggestive
Ivemark syndromeOpen Targets
0.08Suggestive
Nijmegen breakage syndromeOpen Targets
0.08Suggestive
ciliary dyskinesia, primary, 52Open Targets
0.07Suggestive
congenital heart diseaseOpen 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
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
Heterotaxy, visceral, 2, autosomalUniProt
Pathogenic Variants3
NM_032545.4(CFC1):c.195dup (p.Glu66fs)Likely pathogenic
Heterotaxy, visceral, 2, autosomal
β˜…β˜†β˜†β˜†2025β†’ Residue 66
NM_032545.4(CFC1):c.361_362+18dupPathogenic
Heterotaxy, visceral, 2, autosomal
β˜†β˜†β˜†β˜†2002
NM_032545.4(CFC1):c.334C>T (p.Arg112Cys)Pathogenic
Heterotaxy, visceral, 2, autosomal
β˜†β˜†β˜†β˜†2000β†’ Residue 112
View on ClinVar β†—
Related Genes
CRIPTO3Shared pathway100%CFC1BShared pathway100%ACVR1BProtein interaction93%ACVR2BProtein interaction93%GDF1Protein interaction93%NODALProtein interaction93%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
80%
Ovary
0%
Liver
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CFC1CRIPTO3CFC1BACVR1BACVR2BGDF1NODAL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P0CG37
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.59Moderately Constrained
pLIβ“˜
0.86Intermediate
Observed/Expected LoF0.00 [0.00–0.59]
RankingsWhere CFC1 stands among ~20K protein-coding genes
  • #12,956of 20,598
    Most Researched25
  • #4,137of 5,498
    Most Pathogenic Variants3
  • #3,954of 17,882
    Most Constrained (LOEUF)0.59 Β· top quartile
Genes detectedCFC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The RASopathies: from pathogenetics to therapeutics.
PMID: 35178568
Dis Model Mech Β· 2022
1.00
2
Clinical overview on RASopathies.
PMID: 36428239
Am J Med Genet C Semin Med Genet Β· 2022
0.90
3
Human Genetics of Ventricular Septal Defect.
PMID: 38884729
Adv Exp Med Biol Β· 2024
0.80
4
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
PMID: 38136934
Genes (Basel) Β· 2023
0.70
5
[Noonan syndrome: genetic and clinical update and treatment options].
PMID: 32493603
An Pediatr (Engl Ed) Β· 2020
0.60