CFC1

Chr 2q21.1

cryptic, EGF-CFC family member 1

Aliases:: CRYPTIC
MANE:: ENST00000259216.6

OMIM: 605194 ↗NCBI: 55997 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CFC1 · P0CG37

v62025-08-01

Predicted Aligned Error matrix for CFC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.1/ 100

Low

223 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)17%
Low(50–70)22%
Very low(< 50)37%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial non syndromic congenital heart disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Laterality disorders and isomerism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare multisystem ciliopathy disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Heterotaxia
0.70
persistent truncus arteriosus
0.39
double outlet right ventricle
0.39
conotruncal heart malformations
0.39
hereditary disease
0.18
heterotaxy, visceral, 12, autosomal
0.08
right atrial isomerism
0.08
visceral heterotaxy
0.08
Ivemark syndrome
0.08
neuroblastoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cryptic protein

NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation