CFC1 (cripto, FRL-1, cryptic family 1)

2014-11-01  

Identity

HGNC
CFC1
LOCATION
2q21.1
LOCUSID
55997
ALIAS
CFC1B,CRYPTIC,DTGA2,HTX2

Other Information

Locus ID:

NCBI: 55997
MIM: 605194
HGNC: 18292
Ensembl: ENSG00000136698

Variants:

dbSNP: 55997
ClinVar: 55997
TCGA: ENSG00000136698
COSMIC: CFC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136698ENST00000259216P0CG37
ENSG00000136698ENST00000615342A0A087WWV2
ENSG00000136698ENST00000621673A0A087WX98

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
Signaling by NODALREACTOMER-HSA-1181150
Regulation of signaling by NODALREACTOMER-HSA-1433617

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
117994762002CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.39
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
181628452008CFC1 gene involvement in biliary atresia with polysplenia syndrome.17
189307072008Characterization of the glycosylphosphatidylinositol-anchor signal sequence of human Cryptic with a hydrophilic extension.7
198539372011CFC1 mutations in Chinese children with congenital heart disease.6
198539372011CFC1 mutations in Chinese children with congenital heart disease.6
174453352007Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease.5
170726722006Mutations in the EGF-CFC gene cryptic are an infrequent cause of congenital heart disease.4
264767312016Cripto-1 modulates macrophage cytokine secretion and phagocytic activity via NF-κB signaling.2
286201482017CFC1 is a cancer stemness-regulating factor in neuroblastoma.2

Citation

Dessen P

CFC1 (cripto, FRL-1, cryptic family 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61768/cfc1