CFC1 (cryptic, EGF-CFC family member 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 55997
Gene name Cryptic, EGF-CFC family member 1
Gene symbol CFC1
Synonyms (NCBI Gene)
CFC1BCRYPTICDTGA2HTX2
Chromosome 2
Chromosome location 2q21.1
Summary This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich doma
SNPs SNP information provided by dbSNP.
3
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs104893611 G>A Pathogenic Intron variant, genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs746231039 G>- Pathogenic Genic downstream transcript variant, coding sequence variant, frameshift variant
rs863223280 ->ACCCCTGTGCCCACCTGCGC Pathogenic Coding sequence variant, downstream transcript variant, intron variant, splice donor variant, genic downstream transcript variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0001568 Process Blood vessel development IBA
GO:0005576 Component Extracellular region IBA
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IEA
GO:0007165 Process Signal transduction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605194 18292 ENSG00000136698
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0CG37
Protein name Cryptic protein (Cryptic family protein 1)
Protein function NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09443 CFC 123 → 157 Cripto_Frl-1_Cryptic (CFC) Domain
Sequence 
MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGE
VTGSAEGWGPEEPLPYSRAFGEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRR
SECGALEHGAWTLRACHLCRCIFGALHCLPLQTPDRCDPKDFLASHAHGPSAGGAPSLLL
LLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL
Sequence length 223
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Heterotaxy, visceral, 2, autosomal Pathogenic rs104893611, rs863223280 RCV000005496
RCV000005500
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY ATRESIA WITH SPLENIC MALFORMATION SYNDROME — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES WITH CARDIAC MALFORMATION — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES WITH COARCTATION — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DOUBLE OUTLET RIGHT VENTRICLE — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (55)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
AROMATASE EXCESS SYNDROME Aromatase Excess Syndrome BEFREE 24064691
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect BEFREE 17072672
★★★★★
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary Atresia BEFREE 18162845
★★★★★
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Biliary Atresia LHGDN 18162845
★★★★★
★☆☆☆☆
Found in Text Mining only
Biliary atresia with splenic malformation syndrome Biliary Atresia With Splenic Malformation Syndrome ORPHANET_DG 18162845
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Biliary atresia with splenic malformation syndrome Biliary Atresia With Splenic Malformation Syndrome Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blast Phase Blast phase chronic myelogenous leukemia BEFREE 26935241
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiac defects Cardiac Defects BEFREE 17072672
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome BEFREE 12073012
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Congenital adrenal hyperplasia BEFREE 6271801
★★★★★
★☆☆☆☆
Found in Text Mining only