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    DCC DCC netrin 1 receptor [ Homo sapiens (human) ]

    Gene ID: 1630, updated on 14-Nov-2024

    Summary

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    Official Symbol
    DCCprovided by HGNC
    Official Full Name
    DCC netrin 1 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:2701
    See related
    Ensembl:ENSG00000187323 MIM:120470; AllianceGenome:HGNC:2701
    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
    CRC18; CRCR1; MRMV1; HGPPS2; IGDCC1; NTN1R1
    Summary
    This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]
    Expression
    Biased expression in testis (RPKM 2.4), brain (RPKM 1.4) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DCC in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (52340197..53535899)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (52543078..53739020)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (49866567..51062269)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr18:49472122-49472636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13337 Neighboring gene NANOG hESC enhancer GRCh37_chr18:49514627-49515128 Neighboring gene ribosomal protein S8 pseudogene 3 Neighboring gene VISTA enhancer hs1384 Neighboring gene uncharacterized LOC105372121 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:49595452-49596115 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:49754501-49755047 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:49850127-49850638 Neighboring gene vomeronasal 1 receptor 76 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:50162292-50163491 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47967 Neighboring gene NANOG hESC enhancer GRCh37_chr18:50208549-50209050 Neighboring gene NANOG hESC enhancer GRCh37_chr18:50334126-50334627 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:50582336-50582939 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:50780507-50781098 Neighboring gene microRNA 4528 Neighboring gene uncharacterized LOC124904305 Neighboring gene uncharacterized LOC124904304 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:51037281-51038480 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:51093005-51093861 Neighboring gene long intergenic non-protein coding RNA 1919 Neighboring gene long intergenic non-protein coding RNA 1917 Neighboring gene ribosomal protein L29 pseudogene 32

    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. A novel DCC mutation and genetic heterogeneity in congenital mirror movements. Depienne C, et al. Neurology, 2011 Jan 18. PMID 21242494
    2. DCC regulates cell adhesion in human colon cancer derived HT-29 cells and associates with ezrin. Martín M, et al. Eur J Cell Biol, 2006 Aug. PMID 16762451
    3. Automated quantitative analysis of DCC tumor suppressor protein in ovarian cancer tissue microarray shows association with beta-catenin levels and outcome in patients with epithelial ovarian cancer. Bamias A, et al. Ann Oncol, 2006 Dec. PMID 16971669
    4. Deleted in colorectal cancer is a putative conditional tumor-suppressor gene inactivated by promoter hypermethylation in head and neck squamous cell carcinoma. Carvalho AL, et al. Cancer Res, 2006 Oct 1. PMID 17018594
    5. Androgen-regulated genes differentially modulated by the androgen receptor coactivator L-dopa decarboxylase in human prostate cancer cells. Margiotti K, et al. Mol Cancer, 2007 Jun 6. PMID 17553164, Free PMC Article

    See all (155) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Possible Role of Netrin-1/Deleted in Colorectal Cancer/Vascular Endothelial Growth Factor Signaling Pathway in the Pathogenesis of Placenta Accreta Spectrum: A Case-control Study.
      Title: Possible Role of Netrin-1/Deleted in Colorectal Cancer/Vascular Endothelial Growth Factor Signaling Pathway in the Pathogenesis of Placenta Accreta Spectrum: A Case-control Study.
    2. NME1 and DCC variants are associated with susceptibility and tumor characteristics in Mexican patients with colorectal cancer.
      Title: NME1 and DCC variants are associated with susceptibility and tumor characteristics in Mexican patients with colorectal cancer.
    3. Identification of specific codon 201 mutation of the DCC Gene in the colonoscopic specimen of colorectal cancer.
      Title: Identification of specific codon 201 mutation of the DCC Gene in the colonoscopic specimen of colorectal cancer.
    4. An imbalance of netrin-1 and DCC during nigral degeneration in experimental models and patients with Parkinson's disease.
      Title: An imbalance of netrin-1 and DCC during nigral degeneration in experimental models and patients with Parkinson's disease.
    5. Mirror movements and callosal dysgenesis in a family with a DCC mutation: Neuropsychological and neuroimaging outcomes.
      Title: Mirror movements and callosal dysgenesis in a family with a DCC mutation: Neuropsychological and neuroimaging outcomes.
    6. Corticolimbic DCC gene co-expression networks as predictors of impulsivity in children.
      Title: Corticolimbic DCC gene co-expression networks as predictors of impulsivity in children.
    7. Genetic Susceptibility of DCC Gene in Gallbladder Cancer in Kashmir and Meta-Analysis.
      Title: Genetic Susceptibility of DCC Gene in Gallbladder Cancer in Kashmir and Meta-Analysis.
    8. Association between serum netrin-1, netrin-4 and risk of the acute coronary syndrome in patients with type 2 diabetes mellitus-A pilot study.
      Title: Association between serum netrin-1, netrin-4 and risk of the acute coronary syndrome in patients with type 2 diabetes mellitus-A pilot study.
    9. DCC gene network in the prefrontal cortex is associated with total brain volume in childhood.
      Title: DCC gene network in the prefrontal cortex is associated with total brain volume in childhood.
    10. Netrin-1 and its receptor DCC modulate survival and death of dopamine neurons and Parkinson's disease features.
      Title: Netrin-1 and its receptor DCC modulate survival and death of dopamine neurons and Parkinson's disease features.
    Submit: New GeneRIF Correction See all GeneRIFs (89)

    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
    Colorectal cancer
    MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
    		Compare labs
    Gaze palsy, familial horizontal, with progressive scoliosis, 2
    MedGen: C4479640 OMIM: 617542 GeneReviews: Not available
    		Compare labs
    Malignant tumor of esophagus
    MedGen: C0546837 OMIM: 133239 GeneReviews: Not available
    		Compare labs
    Mirror movements 1
    MedGen: C1834870 OMIM: 157600 GeneReviews: Congenital Mirror Movements
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.
    EBI GWAS Catalog
    A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
    EBI GWAS Catalog
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog
    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
    EBI GWAS Catalog
    Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anterior/posterior axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in axonogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dorsal/ventral axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of collateral sprouting TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of dendrite development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of neuron projection development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in postsynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spinal cord ventral commissure morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    netrin receptor DCC
    Names
    colorectal cancer suppressor
    deleted in colorectal carcinoma
    immunoglobulin superfamily DCC subclass member 1
    putative colorectal tumor suppressor
    tumor suppressor protein DCC

    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_013341.2 RefSeqGene

      Range
      5026..1200728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1107

    mRNA and Protein(s)

    1. NM_005215.4 → NP_005206.2  netrin receptor DCC

      See identical proteins and their annotated locations for NP_005206.2

      Status: REVIEWED

      Source sequence(s)
      AC011155, AC103949, BC036524, X76132
      Consensus CDS
      CCDS11952.1
      UniProtKB/Swiss-Prot
      P43146
      Related
      ENSP00000389140.2, ENST00000442544.7
      Conserved Domains (8) summary
      cd05722
      Location:41 → 136
      Ig1_Neogenin; First immunoglobulin (Ig)-like domain in neogenin and similar proteins
      smart00408
      Location:153 → 219
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:726 → 805
      FN3; Fibronectin type 3 domain
      smart00410
      Location:147 → 224
      IG_like; Immunoglobulin like
      cd00063
      Location:528 → 617
      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:331 → 417
      I-set; Immunoglobulin I-set domain
      pfam06583
      Location:1148 → 1445
      Neogenin_C; Neogenin C-terminus
      cl11960
      Location:347 → 417
      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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      52340197..53535899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025568.2 → XP_016881057.1  netrin receptor DCC isoform X1

    2. XM_017025569.2 → XP_016881058.1  netrin receptor DCC isoform X2

    3. XM_047437311.1 → XP_047293267.1  netrin receptor DCC isoform X3

    4. XM_011525844.3 → XP_011524146.1  netrin receptor DCC isoform X4

      UniProtKB/TrEMBL
      J3QS93
      Related
      ENSP00000464582.1, ENST00000581580.5
      Conserved Domains (5) summary
      smart00060
      Location:381 → 460
      FN3; Fibronectin type 3 domain
      cd00063
      Location:183 → 272
      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:2 → 72
      I-set; Immunoglobulin I-set domain
      pfam06583
      Location:803 → 1100
      Neogenin_C; Neogenin C-terminus
      cl11960
      Location:2 → 72
      Ig; Immunoglobulin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      52543078..53739020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318227.1 → XP_054174202.1  netrin receptor DCC isoform X1

    2. XM_054318228.1 → XP_054174203.1  netrin receptor DCC isoform X2

    3. XM_054318229.1 → XP_054174204.1  netrin receptor DCC isoform X3

    4. XM_054318230.1 → XP_054174205.1  netrin receptor DCC isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43146.2 GenPept UniProtKB/Swiss-Prot:P43146

    Gene LinkOut

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

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