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

Gene ID: 8633, updated on 2-Nov-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
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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)

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

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