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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 domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
CFC1 (Cripto, FRL-1, Cryptic Family 1) is a Protein Coding gene. Diseases associated with CFC1 include Heterotaxy, Visceral, 2, Autosomal and Visceral Heterotaxy. Among its related pathways are Signaling by NODAL and Developmental Biology. Gene Ontology (GO) annotations related to this gene include nodal binding. An important paralog of this gene is CFC1B.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH02J130599 | Promoter/Enhancer | 0.5 | EPDnew dbSUPER | 250.7 | +0.0 | 5 | 0.1 | CFC1 HSALNG0018830 CFC1B | ||
GH02J130600 | Enhancer | 0.3 | Ensembl dbSUPER | 250.7 | -0.4 | -426 | 0.4 | CFC1 piR-36631-002 POTEJ | ||
GH02J130601 | Enhancer | 0.4 | Ensembl dbSUPER | 0.7 | -2.5 | -2526 | 1.4 | EZH2 | ENSG00000277668 piR-36631-002 piR-33922-002 CFC1 POTEJ | |
GH02J130590 | Enhancer | 0.6 | Ensembl dbSUPER | 0.4 | +10.3 | 10274 | 0.2 | IKZF1 DPF2 IKZF2 | ENSG00000232408 HSALNG0018830 piR-46320-002 CFC1 CFC1B | |
GH02J130592 | Enhancer | 0.4 | Ensembl dbSUPER | 0.4 | +9.0 | 8974 | 0.8 | ZNF18 | ENSG00000232408 HSALNG0018830 CFC1 CFC1B |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005102 | signaling receptor binding | IBA | 21873635 |
GO:0038100 | nodal binding | IPI | -- |
GO:0070697 | activin receptor binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005575 | cellular_component | ND | -- |
GO:0005576 | extracellular region | IBA | 21873635 |
GO:0005886 | plasma membrane | IEA | -- |
GO:0009986 | cell surface | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NODAL | ||
2 | Human Embryonic Stem Cell Pluripotency |
Human Embryonic Stem Cell Pluripotency
.50
|
|
3 | Developmental Biology |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001568 | blood vessel development | IBA | 21873635 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007368 | determination of left/right symmetry | IBA,NAS | 11062482 |
GO:0007369 | gastrulation | IEA | -- |
GO:0007507 | heart development | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CFC1 30 |
|
||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | LOC609557 30 |
|
||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Cfc1 30 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Cfc1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | CFC1B 30 |
|
||
CFC1 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | oep 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs104893611 | Pathogenic: Heterotaxy, visceral, 2, autosomal. Heterotaxy, visceral, 2, autosomal (HTX2) [MIM:605376] | 130,597,896(-) |
G/Ap.Arg112Cys NM_001270420.1(CFC1):c.248-293C>T |
MISSENSE_VARIANT,INTRON | |
rs199607550 | Benign: not specified; not provided | 130,598,922(-) |
T/G NM_032545.3(CFC1):c.61A>C (p.Asn21His) |
MISSENSE | |
rs199715380 | Benign: Heterotaxy, visceral, 2, autosomal; not specified | 130,597,533(-) |
C/T NM_032545.3(CFC1):c.433G>A (p.Ala145Thr) |
MISSENSE_VARIANT,SYNONYMOUS_VARIANT,INTRON | |
rs200918108 | Benign: not specified | 130,598,920(-) |
A/G NM_032545.3(CFC1):c.63T>C (p.Asn21=) |
SYNONYMOUS | |
rs201431919 | Benign: not specified | 130,598,749(-) |
C/T NM_032545.3(CFC1):c.140G>A (p.Arg47Gln) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2032n106 | OTHER | inversion | 24896259 |
dgv2035n106 | CNV | duplication | 24896259 |
dgv4074n100 | CNV | gain | 25217958 |
esv2759092 | CNV | gain+loss | 17122850 |
esv3592455 | CNV | loss | 21293372 |
nsv1005664 | CNV | loss | 25217958 |
nsv1147463 | OTHER | inversion | 26484159 |
nsv1148026 | CNV | duplication | 26484159 |
nsv428403 | CNV | loss | 18775914 |
nsv583134 | CNV | loss | 21841781 |
nsv7327 | OTHER | inversion | 18451855 |
nsv961509 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
heterotaxy, visceral, 2, autosomal |
|
|
visceral heterotaxy |
|
|
isolated congenitally uncorrected transposition of the great arteries |
|
|
congenitally uncorrected transposition of the great arteries with cardiac malformation |
|
|
biliary atresia with splenic malformation syndrome |
|
|