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    CFC1B cryptic, EGF-CFC family member 1B [ Homo sapiens (human) ]

    Gene ID: 653275, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CFC1Bprovided by HGNC
    Official Full Name
    cryptic, EGF-CFC family member 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:33983
    See related
    Ensembl:ENSG00000152093 AllianceGenome:HGNC:33983
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable activin receptor binding activity and nodal binding activity. Predicted to be involved in circulatory system development; nodal signaling pathway; and regionalization. Predicted to act upstream of or within several processes, including heart development; left lung morphogenesis; and spleen development. Predicted to be active in cell surface and extracellular region. Implicated in tetralogy of Fallot and visceral heterotaxy. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in stomach (RPKM 4.2), prostate (RPKM 2.9) and 2 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CFC1B in Genome Data Viewer
    Location:
    2q21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130521222..130528603)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (130955059..130962469)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131278795..131286176)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 4 subfamily F member 62, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131206043-131206542 Neighboring gene POTE ankyrin domain family member I Neighboring gene RNA, U6 small nuclear 473, pseudogene 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 H3K4me1 hESC enhancer GRCh37_chr2:131340236-131340736 Neighboring gene serine protease 40A (pseudogene)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
    2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables activin receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nodal binding IBA
    Inferred from Biological aspect of Ancestor
    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 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
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cryptic family protein 1B
    Names
    cripto, FRL-1, cryptic family 1B

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001079530.2 → NP_001072998.1  cryptic family protein 1B precursor

      See identical proteins and their annotated locations for NP_001072998.1

      Status: VALIDATED

      Source sequence(s)
      AC013269, BM716751, BQ777283, BU784123
      Consensus CDS
      CCDS33286.1
      UniProtKB/Swiss-Prot
      B2RCY0, B9EJD3, P0CG36, Q53T05, Q9GZR3
      UniProtKB/TrEMBL
      A8K229
      Related
      ENSP00000281882.3, ENST00000281882.8
      Conserved Domains (2) summary
      cd00054
      Location:91 → 115
      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:123 → 157
      CFC; Cripto_Frl-1_Cryptic (CFC)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      130521222..130528603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      130955059..130962469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343477.1 → XP_054199452.1  cryptic family protein 1B isoform X2

      UniProtKB/TrEMBL
      A0A087WWV2

    2. XM_054343476.1 → XP_054199451.1  cryptic family protein 1B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CG36.1 GenPept UniProtKB/Swiss-Prot:P0CG36

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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