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Aliases for CFC1 Gene

Aliases for CFC1 Gene

  • Cripto, FRL-1, Cryptic Family 1 2 3
  • Heterotaxy 2 (Autosomal Dominant) 2 3
  • Cryptic Family Protein 1 3 4
  • CRYPTIC 3 6
  • DTGA2 3 6
  • HTX2 3 6
  • Cryptic Protein 3
  • CFC1B 3

External Ids for CFC1 Gene

Previous Symbols for CFC1 Gene

  • HTX2

Summaries for CFC1 Gene

Entrez Gene Summary for CFC1 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 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]

GeneCards Summary for CFC1 Gene

CFC1 (Cripto, FRL-1, Cryptic Family 1) is a Protein Coding gene. Diseases associated with CFC1 include heterotaxy, visceral, 2, autosomal and cfc1-related conotruncal heart malformations. Among its related pathways are L1CAM interactions and Human Embryonic Stem Cell Pluripotency. GO annotations related to this gene include nodal binding. An important paralog of this gene is TDGF1.

UniProtKB/Swiss-Prot for CFC1 Gene

  • NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFC1 Gene

Genomics for CFC1 Gene

Genomic Location for CFC1 Gene

130,592,165 bp from pter
130,599,575 bp from pter
7,411 bases
Minus strand

Genomic View for CFC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CFC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFC1 Gene

Proteins for CFC1 Gene

  • Protein details for CFC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cryptic protein
    Protein Accession:
    Secondary Accessions:
    • B2RCY0
    • B9EJD3
    • Q53T05
    • Q9GZR3

    Protein attributes for CFC1 Gene

    223 amino acids
    Molecular mass:
    24612 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CFC1 Gene

Proteomics data for CFC1 Gene at MOPED

Post-translational modifications for CFC1 Gene

Other Protein References for CFC1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CFC1 Gene

Domains for CFC1 Gene

Protein Domains for CFC1 Gene


  • Contains 1 EGF-like domain.:
    • P0CG37
genes like me logo Genes that share domains with CFC1: view

No data available for Gene Families for CFC1 Gene

Function for CFC1 Gene

Molecular function for CFC1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for CFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding --
GO:0038100 nodal binding IPI 12052855
genes like me logo Genes that share ontologies with CFC1: view
genes like me logo Genes that share phenotypes with CFC1: view

Animal Models for CFC1 Gene

MGI Knock Outs for CFC1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for CFC1 Gene

Localization for CFC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFC1 Gene

Cell membrane; Lipid-anchor, GPI-anchor. Secreted. Note=Does not exhibit a typical GPI-signal sequence. The C-ter hydrophilic extension of the GPI-signal sequence reduces the efficiency of processing and could lead to the production of an secreted unprocessed form. This extension is found only in primates.

Subcellular locations from

Jensen Localization Image for CFC1 Gene COMPARTMENTS Subcellular localization image for CFC1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 1

Gene Ontology (GO) - Cellular Components for CFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IEA --
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with CFC1: view

Pathways for CFC1 Gene

genes like me logo Genes that share pathways with CFC1: view

Pathways by source for CFC1 Gene

Gene Ontology (GO) - Biological Process for CFC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007368 determination of left/right symmetry NAS 11062482
GO:0007369 gastrulation IEA --
GO:0038092 nodal signaling pathway IMP 12052855
genes like me logo Genes that share ontologies with CFC1: view

Transcripts for CFC1 Gene

Unigene Clusters for CFC1 Gene

Cripto, FRL-1, cryptic family 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CFC1 Gene

No ASD Table

Relevant External Links for CFC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CFC1 Gene

mRNA expression in normal human tissues for CFC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CFC1 Gene

This gene is overexpressed in Pituitary (21.2), Pancreas (14.3), and Brain - Hypothalamus (9.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CFC1 Gene

SOURCE GeneReport for Unigene cluster for CFC1 Gene Hs.567542

genes like me logo Genes that share expressions with CFC1: view

Orthologs for CFC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia -- 37
  • 98 (a)
CFC1 36
  • 98.95 (n)
  • 98.21 (a)
(Canis familiaris)
Mammalia -- 37
  • 48 (a)
LOC609557 36
  • 78.99 (n)
  • 65.45 (a)
(Mus musculus)
Mammalia Cfc1 36
  • 65.5 (n)
  • 54.39 (a)
Cfc1 16
Cfc1 37
  • 48 (a)
(Monodelphis domestica)
Mammalia -- 37
  • 37 (a)
(Rattus norvegicus)
Mammalia Cfc1 36
  • 64.65 (n)
  • 55.7 (a)
(Gallus gallus)
Aves CFC1 37
  • 34 (a)
CFC1B 36
  • 51.43 (n)
  • 41.06 (a)
(Anolis carolinensis)
Reptilia -- 37
  • 31 (a)
(Danio rerio)
Actinopterygii oep 37
  • 29 (a)
Species with no ortholog for CFC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFC1 Gene

Gene Tree for CFC1 (if available)
Gene Tree for CFC1 (if available)

Paralogs for CFC1 Gene

Paralogs for CFC1 Gene

Selected SIMAP similar genes for CFC1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CFC1: view

Variants for CFC1 Gene

Sequence variations from dbSNP and Humsavar for CFC1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs2741410 -- 130,592,299(-) TGACA(C/T)AATTA utr-variant-3-prime
rs2741411 -- 130,591,953(-) aaaat(A/C)caaaa downstream-variant-500B
rs3213896 -- 130,592,326(+) ACAGT(A/G)GATTT utr-variant-3-prime
rs55791556 Benign 130,598,664(-) CTCCC(A/C)TACTC synonymous-codon, reference
rs104893611 Pathogenic 130,597,896(-) CCGGC(C/T)GCTAC intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CFC1 Gene

Variant ID Type Subtype PubMed ID
dgv1247e1 CNV Complex 17122850
dgv1250e1 CNV Complex 17122850
nsv428403 CNV Loss 18775914
nsv7327 OTHER Inversion 18451855
nsv875103 CNV Gain 21882294

Relevant External Links for CFC1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for CFC1 Gene

(3) OMIM Diseases for CFC1 Gene (605194)


  • Heterotaxy, visceral, 2, autosomal (HTX2) [MIM:605376]: 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 been associated with variety of congenital defects including cardiac malformations. {ECO:0000269 PubMed:11062482}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Transposition of the great arteries dextro-looped 2 (DTGA2) [MIM:613853]: A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. {ECO:0000269 PubMed:11799476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CFC1 Gene

Relevant External Links for CFC1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CFC1: view

Publications for CFC1 Gene

  1. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. (PMID: 11062482) Bamford R.N. … Casey B. (Nat. Genet. 2000) 2 3 4 23 49
  2. CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. (PMID: 11799476) Goldmuntz E. … Muenke M. (Am. J. Hum. Genet. 2002) 3 4 23
  3. The EGF-CFC gene family in vertebrate development. (PMID: 10858660) Shen M.M. … Schier A.F. (Trends Genet. 2000) 2 3
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4

Products for CFC1 Gene

Sources for CFC1 Gene

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