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    CFC1 cryptic, EGF-CFC family member 1 [ Homo sapiens (human) ]

    Gene ID: 55997, updated on 17-Jun-2024

    Summary

    Official Symbol
    CFC1provided by HGNC
    Official Full Name
    cryptic, EGF-CFC family member 1provided by HGNC
    Primary source
    HGNC:HGNC:18292
    See related
    Ensembl:ENSG00000136698 MIM:605194; AllianceGenome:HGNC:18292
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HTX2; CFC1B; DTGA2; CRYPTIC
    Summary
    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]
    Expression
    Biased expression in stomach (RPKM 2.7), prostate (RPKM 2.2) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CFC1 in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130592165..130599575, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131026073..131033483, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131349738..131357148, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene serine protease 40B (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131320684-131321250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131321251-131321816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131326595-131327096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131333984-131334654 Neighboring gene serine protease 40A (pseudogene) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131340236-131340736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131350757-131351257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131355418-131355918 Neighboring gene POTE ankyrin domain family member J Neighboring gene RNA, U6 small nuclear 848, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131422411-131422912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131422913-131423412 Neighboring gene cytochrome P450 family 4 subfamily F member 30, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Heterotaxy, visceral, 2, autosomal
    MedGen: C1415817 OMIM: 605376 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2021-09-22)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2021-09-22)

    ClinGen Genome Curation Page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ77897, MGC133213

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables activin receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    enables nodal binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables nodal binding IPI
    Inferred from Physical Interaction
    more info
     
    Process Evidence Code Pubs
    involved_in anterior/posterior pattern specification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in blood vessel development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in determination of left/right symmetry IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in determination of left/right symmetry NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in gastrulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nodal signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nodal signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
     
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cellular_component ND
    No biological Data available
    more info
     
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cryptic protein
    Names
    cripto, FRL-1, cryptic family 1
    cryptic family protein 1
    heterotaxy 2 (autosomal dominant)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008148.1 RefSeqGene

      Range
      4935..12345
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001270420.2NP_001257349.1  cryptic protein isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK315326, BI793242, BM310214, CA941621, CA948246
      Consensus CDS
      CCDS74574.1
      UniProtKB/TrEMBL
      A0A087WWV2, A0A087X0G3
      Related
      ENSP00000480526.1, ENST00000615342.4
    2. NM_001270421.2NP_001257350.1  cryptic protein isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK315326, BI793242, CA777249, CA948246
      Consensus CDS
      CCDS74573.1
      UniProtKB/TrEMBL
      A0A087WWE4, A0A087WX98
      Related
      ENSP00000480843.1, ENST00000621673.4
    3. NM_032545.4NP_115934.1  cryptic protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_115934.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AF312769, AK315326, BI793242, CA948246
      Consensus CDS
      CCDS2162.1
      UniProtKB/Swiss-Prot
      P0CG37
      UniProtKB/TrEMBL
      A8K229
      Related
      ENSP00000259216.5, ENST00000259216.6
      Conserved Domains (2) summary
      cd00054
      Location:91115
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam09443
      Location:123157
      CFC; Cripto_Frl-1_Cryptic (CFC)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      130592165..130599575 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511486.4XP_011509788.1  cryptic protein isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      131026073..131033483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343017.1XP_054198992.1  cryptic protein isoform X1