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    CDON cell adhesion associated, oncogene regulated [ Homo sapiens (human) ]

    Gene ID: 50937, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CDONprovided by HGNC
    Official Full Name
    cell adhesion associated, oncogene regulatedprovided by HGNC
    Primary source
    HGNC:HGNC:17104
    See related
    Ensembl:ENSG00000064309 MIM:608707; AllianceGenome:HGNC:17104
    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
    CDO; Ihog; CDON1; HPE11; ORCAM
    Summary
    This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in thyroid (RPKM 12.5), ovary (RPKM 11.8) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CDON in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (125956821..126063352, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (125985675..126092163, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125826716..125933187, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene DEAD-box helicase 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125802853-125803806 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125805158-125805722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4045 Neighboring gene V-set and immunoglobulin domain containing 10 like 2 Neighboring gene VISTA enhancer hs1641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4047 Neighboring gene NANOG hESC enhancer GRCh37_chr11:125946539-125947040 Neighboring gene nucleosome assembly protein 1 like 1 pseudogene 1 Neighboring gene uncharacterized LOC124902782 Neighboring gene uncharacterized LOC107984407

    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. Identification of transmembrane protein in prostate cancer by the Escherichia coli ampicillin secretion trap: expression of CDON is involved in tumor cell growth and invasion. Hayashi T, et al. Pathobiology, 2011. PMID 21849809
    2. Cdon and Boc: Two transmembrane proteins implicated in cell-cell communication. Sanchez-Arrones L, et al. Int J Biochem Cell Biol, 2012 May. PMID 22326621
    3. A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome. Bashamboo A, et al. J Clin Endocrinol Metab, 2016 Jan. PMID 26529631
    4. CDO, an Hh-coreceptor, mediates lung cancer cell proliferation and tumorigenicity through Hedgehog signaling. Leem YE, et al. PLoS One, 2014. PMID 25369201, Free PMC Article
    5. Cdon suppresses vascular smooth muscle calcification via repression of the Wnt/Runx2 Axis. Ahn BY, et al. Exp Mol Med, 2023 Jan. PMID 36609601, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cdon suppresses vascular smooth muscle calcification via repression of the Wnt/Runx2 Axis.
      Title: Cdon suppresses vascular smooth muscle calcification via repression of the Wnt/Runx2 Axis.
    2. Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
      Title: Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
    3. Compound heterozygous splicing CDON variants result in isolated ocular coloboma.
      Title: Compound heterozygous splicing CDON variants result in isolated ocular coloboma.
    4. We identified a novel heterozygous nonsense CDON mutation in a case of Pituitary Stalk Interruption Syndrome who presented with neonatal hypoglycemia and cholestasis
      Title: A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome.
    5. CDO is required for proliferation and survival of lung cancer cells via Hh signaling.
      Title: CDO, an Hh-coreceptor, mediates lung cancer cell proliferation and tumorigenicity through Hedgehog signaling.
    6. These data support the view that cell-adhesion molecule-related/downregulated by oncogenes (CDON) acts as a tumor suppressor in neuroblastomas, and that CDON is tightly regulated by miRNAs.
      Title: Regulation by miR181 family of the dependence receptor CDON tumor suppressive activity in neuroblastoma.
    7. Single-nucleotide polymorphism in CDON is associated with biochemical recurrence in prostate cancer.
      Title: Genetic variants in microRNAs and microRNA target sites predict biochemical recurrence after radical prostatectomy in localized prostate cancer.
    8. Mutations in the CDON cause holoprosencephaly. (Review)
      Title: Cdon and Boc: Two transmembrane proteins implicated in cell-cell communication.
    9. We found that CDON is overexpressed in prostate cancer
      Title: Identification of transmembrane protein in prostate cancer by the Escherichia coli ampicillin secretion trap: expression of CDON is involved in tumor cell growth and invasion.
    10. CDON must associate with both ligand and other hedgehog-receptor components, particularly PTCH1, for signaling to occur and disruption of the latter interactions is a mechanism of holoprosencephaly.
      Title: Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Holoprosencephaly 11
    MedGen: C3280215 OMIM: 614226 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog
    Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene.
    EBI GWAS Catalog
    Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111524

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell fate specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic body morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in embryonic retina morphogenesis in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal muscle satellite cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    cell adhesion molecule-related/down-regulated by oncogenes
    Names
    Cdon homolog
    surface glycoprotein, Ig superfamily member

    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.

    Genomic

    1. NG_029776.1 RefSeqGene

      Range
      5001..111475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001243597.2 → NP_001230526.1  cell adhesion molecule-related/down-regulated by oncogenes isoform 1 precursor

      See identical proteins and their annotated locations for NP_001230526.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB209396, AP000842, BC098583, BC112362
      Consensus CDS
      CCDS58192.1
      UniProtKB/Swiss-Prot
      O14631, Q4KMG0
      Related
      ENSP00000376458.3, ENST00000392693.7
      Conserved Domains (6) summary
      cd00096
      Location:422 → 514
      Ig; Immunoglobulin domain
      smart00408
      Location:326 → 387
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:319 → 397
      IG_like; Immunoglobulin like
      cd00063
      Location:721 → 811
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:405 → 517
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:30 → 115
      Ig; Immunoglobulin domain

    2. NM_001378964.1 → NP_001365893.1  cell adhesion molecule-related/down-regulated by oncogenes isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AP000821, AP000842
      Consensus CDS
      CCDS8468.1
      Related
      ENSP00000432901.2, ENST00000531738.6
      Conserved Domains (6) summary
      smart00408
      Location:237 → 297
      IGc2; Immunoglobulin C-2 Type
      cd00063
      Location:721 → 811
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:590 → 666
      fn3; Fibronectin type III domain
      pfam07679
      Location:313 → 387
      I-set; Immunoglobulin I-set domain
      cd00096
      Location:141 → 200
      Ig; Immunoglobulin domain
      cl11960
      Location:29 → 114
      Ig; Immunoglobulin domain

    3. NM_016952.5 → NP_058648.4  cell adhesion molecule-related/down-regulated by oncogenes isoform 2 precursor

      See identical proteins and their annotated locations for NP_058648.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AF004841, AI190027, AP000842, BC112362
      Consensus CDS
      CCDS8468.1
      UniProtKB/Swiss-Prot
      Q4KMG0
      Related
      ENSP00000263577.7, ENST00000263577.11
      Conserved Domains (6) summary
      smart00408
      Location:237 → 297
      IGc2; Immunoglobulin C-2 Type
      cd00063
      Location:721 → 811
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:590 → 666
      fn3; Fibronectin type III domain
      pfam07679
      Location:313 → 387
      I-set; Immunoglobulin I-set domain
      cd00096
      Location:141 → 200
      Ig; Immunoglobulin domain
      cl11960
      Location:29 → 114
      Ig; Immunoglobulin domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      125956821..126063352 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427064.1 → XP_047283020.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X2

    2. XM_017017873.2 → XP_016873362.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X1

      UniProtKB/Swiss-Prot
      O14631, Q4KMG0
      Related
      ENSP00000507318.1, ENST00000684078.1
      Conserved Domains (6) summary
      cd00096
      Location:422 → 514
      Ig; Immunoglobulin domain
      smart00408
      Location:326 → 387
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:319 → 397
      IG_like; Immunoglobulin like
      cd00063
      Location:721 → 811
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:405 → 517
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:30 → 115
      Ig; Immunoglobulin domain

    3. XM_047427062.1 → XP_047283018.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X2

    4. XM_011542864.3 → XP_011541166.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X1

      See identical proteins and their annotated locations for XP_011541166.1

      UniProtKB/Swiss-Prot
      O14631, Q4KMG0
      Conserved Domains (6) summary
      cd00096
      Location:422 → 514
      Ig; Immunoglobulin domain
      smart00408
      Location:326 → 387
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:319 → 397
      IG_like; Immunoglobulin like
      cd00063
      Location:721 → 811
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:405 → 517
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:30 → 115
      Ig; Immunoglobulin domain

    5. XM_011542862.4 → XP_011541164.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X1

      See identical proteins and their annotated locations for XP_011541164.1

      UniProtKB/Swiss-Prot
      O14631, Q4KMG0
      Conserved Domains (6) summary
      cd00096
      Location:422 → 514
      Ig; Immunoglobulin domain
      smart00408
      Location:326 → 387
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:319 → 397
      IG_like; Immunoglobulin like
      cd00063
      Location:721 → 811
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:405 → 517
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:30 → 115
      Ig; Immunoglobulin domain

    6. XM_047427063.1 → XP_047283019.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X2

    7. XM_011542865.3 → XP_011541167.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X1

      See identical proteins and their annotated locations for XP_011541167.1

      UniProtKB/Swiss-Prot
      O14631, Q4KMG0
      Conserved Domains (6) summary
      cd00096
      Location:422 → 514
      Ig; Immunoglobulin domain
      smart00408
      Location:326 → 387
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:319 → 397
      IG_like; Immunoglobulin like
      cd00063
      Location:721 → 811
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:405 → 517
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:30 → 115
      Ig; Immunoglobulin domain

    8. XM_047427061.1 → XP_047283017.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X2

    9. XM_011542863.3 → XP_011541165.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X1

      See identical proteins and their annotated locations for XP_011541165.1

      UniProtKB/Swiss-Prot
      O14631, Q4KMG0
      Conserved Domains (6) summary
      cd00096
      Location:422 → 514
      Ig; Immunoglobulin domain
      smart00408
      Location:326 → 387
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:319 → 397
      IG_like; Immunoglobulin like
      cd00063
      Location:721 → 811
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:405 → 517
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:30 → 115
      Ig; Immunoglobulin domain

    10. XM_047427060.1 → XP_047283016.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X1

      UniProtKB/Swiss-Prot
      O14631, Q4KMG0

    11. XM_047427065.1 → XP_047283021.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X3

      UniProtKB/TrEMBL
      A0A804HL16
      Related
      ENSP00000508160.1, ENST00000684636.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      125985675..126092163 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369042.1 → XP_054225017.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X2

    2. XM_054369038.1 → XP_054225013.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X1

    3. XM_054369041.1 → XP_054225016.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X2

    4. XM_054369035.1 → XP_054225010.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X1

    5. XM_054369034.1 → XP_054225009.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X1

    6. XM_054369040.1 → XP_054225015.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X2

    7. XM_054369037.1 → XP_054225012.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X1

    8. XM_054369033.1 → XP_054225008.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X1

    9. XM_054369036.1 → XP_054225011.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X1

    10. XM_054369039.1 → XP_054225014.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X2

    11. XM_054369043.1 → XP_054225018.1  cell adhesion molecule-related/down-regulated by oncogenes isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4KMG0.2 GenPept UniProtKB/Swiss-Prot:Q4KMG0

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