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    UNC5C unc-5 netrin receptor C [ Homo sapiens (human) ]

    Gene ID: 8633, updated on 28-Oct-2024

    Summary

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    Official Symbol
    UNC5Cprovided by HGNC
    Official Full Name
    unc-5 netrin receptor Cprovided by HGNC
    Primary source
    HGNC:HGNC:12569
    See related
    Ensembl:ENSG00000182168 MIM:603610; AllianceGenome:HGNC:12569
    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
    UNC5H3
    Summary
    This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in thyroid (RPKM 2.7), adrenal (RPKM 2.7) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UNC5C in Genome Data Viewer
    Location:
    4q22.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (95162504..95548973, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (98477165..98864110, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (96083655..96470124, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene BMPR1B divergent transcript Neighboring gene bone morphogenetic protein receptor type 1B Neighboring gene NANOG hESC enhancer GRCh37_chr4:95837674-95838175 Neighboring gene uncharacterized LOC124900735 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:96140095-96141294 Neighboring gene Sharpr-MPRA regulatory region 12130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:96321208-96321708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:96321709-96322209 Neighboring gene uncharacterized LOC124900736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21730 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:96506064-96507263 Neighboring gene UNC5C antisense RNA 1 Neighboring gene ribosomal protein L30 pseudogene 6

    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. Cloning and mapping of the UNC5C gene to human chromosome 4q21-q23. Ackerman SL, et al. Genomics, 1998 Sep 1. PMID 9782087
    2. Changes in UNC5C gene methylation during human gastric carcinogenesis. Hibi K, et al. Anticancer Res, 2009 Nov. PMID 20032384
    3. Genetic and epigenetic control of UNC5C expression in human renal cell carcinoma. Lv D, et al. Eur J Cancer, 2011 Sep. PMID 21600761
    4. Variants in the netrin-1 receptor UNC5C prevent apoptosis and increase risk of familial colorectal cancer. Coissieux MM, et al. Gastroenterology, 2011 Dec. PMID 21893118, Free PMC Article
    5. Methylation of the UNC5C gene is frequently detected in hepatocellular carcinoma. Hibi K, et al. Hepatogastroenterology, 2012 Nov-Dec. PMID 23178624

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways.
      Title: UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways.
    2. Identification and validation of HOXD3 and UNC5C as molecular signatures in keloid based on weighted gene co-expression network analysis.
      Title: Identification and validation of HOXD3 and UNC5C as molecular signatures in keloid based on weighted gene co-expression network analysis.
    3. A global integrated analysis of UNC5C down-regulation in cancers: insights from mechanism and combined treatment strategy.
      Title: A global integrated analysis of UNC5C down-regulation in cancers: insights from mechanism and combined treatment strategy.
    4. UNC5Cknockdown enhances the growth and metastasis of breast cancer cells by potentiating the integrin alpha6/beta4 signaling pathway.
      Title: UNC5C‑knockdown enhances the growth and metastasis of breast cancer cells by potentiating the integrin α6/β4 signaling pathway.
    5. An UNC5C Allele Predicts Cognitive Decline and Hippocampal Atrophy in Clinically Normal Older Adults.
      Title: An UNC5C Allele Predicts Cognitive Decline and Hippocampal Atrophy in Clinically Normal Older Adults.
    6. Promoter Hypermethylation of UNC5C Gene is associated with Colorectal Cancer.
      Title: Significant Pattern of Promoter Hypermethylation of UNC5C Gene in Colorectal Cancer and Its Implication in Late Stage Disease.
    7. The objective of this study is to investigate the influence of UNC5C loci on the neuroimaging of strategic regions of Alzheimer's disease.
      Title: The Impact of UNC5C Genetic Variations on Neuroimaging in Alzheimer's Disease.
    8. we identified ENC1 and UNC5C as genes with convergent genetic, epigenetic, and transcriptomic evidence supporting a potential role in the dissociation of cognition and neuropathology in an aging population.
      Title: Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data.
    9. the results suggest that UNC5C methylation may be an earlier event in the development of colorectal cancer, which was negatively correlated with protein expression.
      Title: Methylation of the UNC5C gene and its protein expression in colorectal cancer.
    10. 7 of these 8 variants do not cause increased colorectal cancer risk, including UNC5C c.1882_1883delinsAA (p.A628K).
      Title: Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.
    Submit: New GeneRIF Correction See all GeneRIFs (33)

    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

    EBI GWAS Catalog

    Description
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    EBI GWAS Catalog
    Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
    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)

    Genotypes

    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 netrin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables netrin receptor activity involved in chemorepulsion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tubulin binding IPI
    Inferred from Physical Interaction
    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 brain development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chemorepulsion of axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in dorsal root ganglion development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ectopic germ cell programmed cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in netrin-activated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of developmental process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of reproductive process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of neuron migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    netrin receptor UNC5C
    Names
    protein unc-5 homolog 3
    protein unc-5 homolog C
    unc-5 homolog 3
    unc-5 homolog C
    unc5 (C.elegans homolog) c

    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_003728.4 → NP_003719.3  netrin receptor UNC5C precursor

      See identical proteins and their annotated locations for NP_003719.3

      Status: REVIEWED

      Source sequence(s)
      AC098584, AC105395, AC106881
      Consensus CDS
      CCDS3643.1
      UniProtKB/Swiss-Prot
      O95185, Q8IUT0
      UniProtKB/TrEMBL
      A8K385
      Related
      ENSP00000406022.1, ENST00000453304.6
      Conserved Domains (5) summary
      smart00218
      Location:528 → 631
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      smart00209
      Location:263 → 314
      TSP1; Thrombospondin type 1 repeats
      cd08799
      Location:844 → 926
      Death_UNC5C; Death domain found in Uncoordinated-5C
      pfam17217
      Location:678 → 817
      UPA; UPA domain
      cl11960
      Location:171 → 257
      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      95162504..95548973 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263321.4 → XP_005263378.1  netrin receptor UNC5C isoform X1

      See identical proteins and their annotated locations for XP_005263378.1

      UniProtKB/TrEMBL
      A8K385
      Conserved Domains (5) summary
      smart00218
      Location:547 → 650
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      smart00209
      Location:263 → 314
      TSP1; Thrombospondin type 1 repeats
      pfam07679
      Location:169 → 257
      I-set; Immunoglobulin I-set domain
      cd08799
      Location:863 → 945
      Death_UNC5C; Death domain found in Uncoordinated-5C
      cl11960
      Location:171 → 257
      Ig; Immunoglobulin domain

    2. XM_047416346.1 → XP_047272302.1  netrin receptor UNC5C isoform X2

    3. XM_047416345.1 → XP_047272301.1  netrin receptor UNC5C isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      98477165..98864110 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351147.1 → XP_054207122.1  netrin receptor UNC5C isoform X1

    2. XM_054351149.1 → XP_054207124.1  netrin receptor UNC5C isoform X2

    3. XM_054351148.1 → XP_054207123.1  netrin receptor UNC5C isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95185.2 GenPept UniProtKB/Swiss-Prot:O95185

    Gene LinkOut

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

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