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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cryptic, EGF-CFC family member 1
Summary
- Gene Symbol
-
- CFC1
- Aliases
-
- CRYPTIC
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Cell membrane
- Disease variant
- Disulfide bond
- EGF-like domain
- GPI-anchor
- Gastrulation
- Heterotaxy
- Reference proteome
- Secreted
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| P0CG37 |
|
| A0A087WX98 |
|
| A0A087WWV2 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| blood vessel development |
| GO Term | Evidence Code | PMID |
|---|---|---|
| cellular_component | ||
| plasma membrane | ||
| side of membrane | ||
| extracellular region | ||
| cell surface |
| GO Term | Evidence Code | PMID |
|---|---|---|
| activin receptor binding | ||
| nodal binding | ||
| molecular_function |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Teratocarcinoma-derived growth factor
- Functional Category
-
- J: Translation, ribosomal structure and biogenesis
- K: Transcription
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| activin receptor binding |
| anterior/posterior pattern specification |
| blood vessel development |
| determination of left/right symmetry |
| nodal binding |
| nodal signaling pathway |
| InterPro |
|---|
| Cryptic/Cripto, CFC domain |
| EGF-like domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050545 | visceral heterotaxy | |
| DOID:0060770 | dextro-looped transposition of the great arteries | |
| DOID:0060856 | right atrial isomerism | |
| DOID:6406 | double outlet right ventricle |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000252 | Microcephaly |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001651 | Dextrocardia |
| HP:0001669 | Transposition of the great arteries |
| HP:0001696 | Situs inversus totalis |
| HP:0001719 | Double outlet right ventricle |
| HP:0001746 | Asplenia |
| HP:0001748 | Polysplenia |
| HP:0002566 | Intestinal malrotation |
| Disease ID | Disease Name |
|---|---|
| OMIM:605376 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 129031728 | 9600_0:000d63 |
