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CFC1 Gene

protein-coding   GIFtS: 52
GCID: GC02M131350

Cripto, FRL-1, Cryptic Family 1

(Previous name: heterotaxy 2 (autosomal dominant))
(Previous symbol: HTX2)
  See CFC1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cripto, FRL-1, Cryptic Family 11 2     CRYPTIC2 5
HTX21 2 5     DTGA22 5
Heterotaxy 2 (Autosomal Dominant)1 2     CFC1B2
Cryptic Family Protein 12 3     Cryptic Protein2

External Ids:    HGNC: 182921   Entrez Gene: 559972   Ensembl: ENSG000001366987   OMIM: 6051945   UniProtKB: P0CG373   

Export aliases for CFC1 gene to outside databases

Previous GC identifers: GC02P131372 GC02M131066 GC02M123494


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 cfc1-related conotruncal heart malformations, and biliary atresia with splenic malformation syndrome. GO annotations related to this gene include nodal binding. An important paralog of this gene is TDGF1.

UniProtKB/Swiss-Prot: CFC1_HUMAN, P0CG37
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the CFC1 gene promoter:
         AML1a   AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCFC1 promoter sequence
   Search Chromatin IP Primers for CFC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CFC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q21.1   Ensembl cytogenetic band:  2q21.1   HGNC cytogenetic band: 2q21.2

CFC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CFC1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M131350:  view genomic region     (about GC identifiers)

Start:
131,350,335 bp from pter      End:
131,357,123 bp from pter
Size:
6,789 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CFC1_HUMAN, P0CG37 (See protein sequence)
Recommended Name: Cryptic protein precursor  
Size: 223 amino acids; 24612 Da
Caution: This gene differs from CFC1B by only one residue at position 78:R -> W. R78W is also thought to be a CFC1
polymorphism which has been shown to lead to a different cell surface distribution and activity (PubMed:11799476
and PubMed:11062482)
Secondary accessions: B2RCY0 B9EJD3 Q53T05 Q9GZR3

Explore the universe of human proteins at neXtProt for CFC1: NX_P0CG37

Explore proteomics data for CFC1 at MOPED

Post-translational modifications: 

  • N-glycosylated (By similarity)1
  • Glycosylation2 at Asn52

  • See CFC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001257349.1  NP_001257350.1  NP_115934.1  

    ENSEMBL proteins: 
     ENSP00000259216  
    Reactome Protein details: P0CG37

    CFC1 Human Recombinant Protein Products:

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    Novus Biologicals CFC1 Proteins
    Novus Biologicals CFC1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CFC1

     
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    antibodies-online proteins for CFC1 (7 products) 

     
    antibodies-online peptides for CFC1

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    antibodies-online antibodies for CFC1 (16 products) 

    CFC1 Assay Products:

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    antibodies-online kits for CFC1 (5 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR000742 EG-like_dom
     IPR019011 Cryptic/Cripto_CFC-dom
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry P0CG37

    ProtoNet protein and cluster: P0CG37

    UniProtKB/Swiss-Prot: CFC1_HUMAN, P0CG37
    Similarity: Contains 1 EGF-like domain


    Find genes that share domains with CFC1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CFC1_HUMAN, P0CG37
    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding ----
    GO:0038100nodal binding IPI12052855
         
    Find genes that share ontologies with CFC1           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Cfc1):
     cardiovascular system  digestive/alimentary  embryogenesis  growth/size/body  hematopoietic system 
     immune system  liver/biliary system  mortality/aging  respiratory system  skeleton 

    Find genes that share phenotypes with CFC1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cfc1tm1Mms for CFC1

       genOway: Develop your customized and physiologically relevant rodent model for CFC1

    miRNA
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    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CFC1_HUMAN, P0CG37: 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 COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytosol1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane IEA--
    GO:0031225anchored component of membrane IEA--

    Find genes that share ontologies with CFC1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CFC1 About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling by NODAL
    Signaling by NODAL0.39
    Regulation of Signaling by NODAL0.00
    2L1CAM interactions
    Developmental Biology0.63


    Find genes that share SuperPaths with CFC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CFC1
        Human Embryonic Stem Cell Pluripotency

    2 Reactome Pathways for CFC1
        Signaling by NODAL
    Regulation of signaling by NODAL


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CFC1
    Interactions:

        GeneGlobe Interaction Network for CFC1

    1 Interacting protein for CFC1 (P0CG373) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NODALQ96S423I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007368determination of left/right symmetry NAS11062482
    GO:0007369gastrulation IEA--
    GO:0038092nodal signaling pathway IMP12052855

    Find genes that share ontologies with CFC1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CFC1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CFC1 gene (3 alternative transcripts): 
    NM_001270420.1  NM_001270421.1  NM_032545.3  

    Unigene Cluster for CFC1:

    Cripto, FRL-1, cryptic family 1
    Hs.567542  [show with all ESTs]
    Unigene Representative Sequence: NM_032545
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000259216(uc002tro.1)
    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CFC1
      QuantiFast Probe-based Assays in human, mouse, rat CFC1

    Additional mRNA sequence: 

    AF312769.1 AK290094.1 AK315326.1 BC069508.1 BC074825.2 BC074826.2 BC110080.1 BC146897.1 
    DQ786275.1 

    9 DOTS entries:

    DT.120981469  DT.111026  DT.120981189  DT.70105380  DT.100812210  DT.120981140  DT.120981442  DT.95095721 
    DT.97833321 

    Selected AceView cDNA sequences (see all 81):

    BM310214 BQ787192 BM674383 BQ186931 BM975147 CA943425 AI732919 CA943471 
    BU948650 BQ189720 BM684520 BM142331 BM701258 BQ416625 AI791237 BQ786918 
    BU783817 BQ777283 BU947274 BC074826 BQ416928 BX279823 CA941513 CA776964 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CFC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGAATGTGC
    CFC1 Expression
    About this image


    CFC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 2 entries
             Primitive Streak Cells Primitive Streak
             Notochordal Plate
     
     NULL (Uncategorized)
             Mesoderm-like cells
     
     Amnion (Extraembryonic Tissues)
             Amniotic Epithelial Cells Amniotic Membrane
     
     Lung (Respiratory System)
     
     Pancreas (Endocrine System)
    CFC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CFC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567542
        Custom PCR Arrays for CFC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CFC1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cfc11 , 5 cripto, FRL-1, cryptic family 11, 5 65.5(n)1
    54.39(a)1
      1 (13.34 cM)5
    126271  NM_007685.21  NP_031711.11 
     345356485 
    chicken
    (Gallus gallus)
    Aves CFC1B1 cripto, FRL-1, cryptic family 1B 51.43(n)
    41.06(a)
      395437  NM_204700.2  NP_990031.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    31(a)
    1 → many
    2(39802641-39806113)
    zebrafish
    (Danio rerio)
    Actinopterygii oep6
    one-eyed pinhead
    29(a)
    1 → many
    10(1983898-1990349) ENSDARG00000035095


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CFC1 gene
    CFC1B1 2  TDGF12  
    1 SIMAP similar gene for CFC1 using alignment to 1 protein entry:     CFC1_HUMAN:
    CFC1B

    Find genes that share paralogs with CFC1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CFC1 (see all 79)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0243234
    Heterotaxy, visceral, 2, autosomal (HTX2)4--see VAR_0243232 R C mis40--------
    rs1048936111,2
    Cpathogenic1130855810(-) CCGGCC/TGCTAC 4 R C mis1 int10--------
    rs27414101,2
    --130850213(-) TGACAC/TAATTA 3 -- ut310--------
    rs1134499801,2
    C--130850213(-) TGACAT/CAATTA 3 -- ut313Minor allele frequency- C:0.00WA NA 6
    rs32138961,2
    C--130850240(+) ACAGTG/AGATTT 3 -- ut311Minor allele frequency- A:0.00NA 2
    rs27414091,2
    C--130850275(-) GTAGAG/AGGCAC 3 -- ut312Minor allele frequency- A:0.00NA 4
    rs2010253221,2
    C--130851241(+) TTAAA-/GGGGGA 3 -- int10--------
    rs25794231,2
    C--130851252(+) ACGAAG/CAACAG 3 -- int14Minor allele frequency- C:0.00NA WA 8
    rs15614491,2
    C--130851379(+) CTTCCG/ATCTGC 3 -- int13Minor allele frequency- A:0.00NA 6
    rs1436662961,2
    C--130851379(+) CTTCCA/GTCTGC 3 -- int10--------

    HapMap Linkage Disequilibrium report for CFC1 (131350335 - 131357123 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CFC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv428403CNV Loss18775914
    nsv875103CNV Gain21882294
    dgv1247e1CNV Complex17122850
    dgv1250e1CNV Complex17122850
    nsv7327OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): CFC1
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CFC1
    DNA2.0 Custom Variant and Variant Library Synthesis for CFC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605194   
    OMIM disorders: 605376  217095  613853  
    UniProtKB/Swiss-Prot: CFC1_HUMAN, P0CG37
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 14 diseases for CFC1:    
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    cfc1-related conotruncal heart malformations    biliary atresia with splenic malformation syndrome    cfc1-related visceral heterotaxy    heterotaxy, visceral, 2, autosomal
    transposition of the great arteries, dextro-looped 2    double outlet right ventricle    transposition of the great arteries, dextro-looped 1    visceral heterotaxy
    transposition of the great arteries    biliary atresia    congenital heart disease    heterotaxy
    ventricular septal defect    phenylketonuria

    2 diseases from the University of Copenhagen DISEASES database for CFC1:
    Ventricular septal defect     Biliary atresia

    Find genes that share disorders with CFC1           About GenesLikeMe

    Genetic Association Database (GAD): CFC1
    Human Genome Epidemiology (HuGE) Navigator: CFC1 (4 documents)

    Export disorders for CFC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CFC1 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with CFC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. (PubMed id 11062482)1, 2, 3, 4, 9 Bamford R.N.... Casey B. (Nat. Genet. 2000)
    2. CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. (PubMed id 11799476)1, 2, 9 Goldmuntz E....Muenke M. (Am. J. Hum. Genet. 2002)
    3. CFC1 mutations in Chinese children with congenital heart disease. (PubMed id 19853937)1, 4 Wang B....Ma X. (Int. J. Cardiol. 2011)
    4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    5. Characterization of the glycosylphosphatidylinositol-anchor signal sequence of human Cryptic with a hydrophilic extension. (PubMed id 18930707)1, 2 Watanabe K.... Salomon D.S. (Biochim. Biophys. Acta 2008)
    6. Variants of the CFC1 gene in patients with laterality defects associated with congenital cardiac disease. (PubMed id 17445335)1, 4 Selamet Tierney E.S....Chung W.K. (Cardiol Young 2007)
    7. Mutations in the EGF-CFC gene cryptic are an infrequent cause of congenital heart disease. (PubMed id 17072672)1, 4 Ozcelik C....Stiller B. (Pediatr Cardiol 2006)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. The EGF-CFC gene family in vertebrate development. (PubMed id 10858660)1, 3 Shen M.M. and Schier A.F. (Trends Genet. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55997 HGNC: 18292 AceView: CFC1.1 Ensembl:ENSG00000136698 euGenes: HUgn55997
    ECgene: CFC1 H-InvDB: CFC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CFC1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CFC1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CFC1 gene:
    Search GeneIP for patents involving CFC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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