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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Heterotaxy, visceral, 2, autosomal Pathogenic rs104893611, rs863223280 RCV000005496
RCV000005500
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bone Malalignment Associate 11799476
Double Outlet Right Ventricle Associate 11799476
Heart Diseases Associate 11799476
Heterotaxy Syndrome Associate 11799476, 25423076
Transposition of Great Vessels Associate 11799476