CFC1 (cryptic, EGF-CFC family member 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55997
Gene name Gene Name - the full gene name approved by the HGNC.
Cryptic, EGF-CFC family member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFC1
Synonyms (NCBI Gene) Gene synonyms aliases
CFC1B, CRYPTIC, DTGA2, HTX2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605194 18292 ENSG00000136698
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Heterotaxy, Visceral heterotaxy, visceral, 2, autosomal rs104893611, rs863223280 N/A
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease 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