Entity Details

Primary name CFC1
Entity type gene
Source Source Link

Details

PrimaryID55997
RefseqGeneNG_008148
SymbolCFC1
Namecripto, FRL-1, cryptic family 1
Chromosome2
Location2q21.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCFC1_HUMAN

GO terms

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GOName
GO:0001568 blood vessel development
GO:0005102 signaling receptor binding
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0007368 determination of left/right symmetry
GO:0007369 gastrulation
GO:0007507 heart development
GO:0009952 anterior/posterior pattern specification
GO:0009986 cell surface
GO:0031225 anchored component of membrane
GO:0038092 nodal signaling pathway
GO:0038100 nodal binding
GO:0048856 anatomical structure development
GO:0070697 activin receptor binding

Diseases

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Disease IDSourceNameDescription
605376 OMIMHeterotaxy, visceral, 2, autosomal (HTX2)A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
CFC1UBR4BioGRID26186194 details