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    UNC5B unc-5 netrin receptor B [ Homo sapiens (human) ]

    Gene ID: 219699, updated on 27-Nov-2024

    Summary

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    Official Symbol
    UNC5Bprovided by HGNC
    Official Full Name
    unc-5 netrin receptor Bprovided by HGNC
    Primary source
    HGNC:HGNC:12568
    See related
    Ensembl:ENSG00000107731 MIM:607870; AllianceGenome:HGNC:12568
    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
    Also known as
    UNC5H2; p53RDL1
    Summary
    This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Ubiquitous expression in brain (RPKM 4.8), gall bladder (RPKM 4.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UNC5B in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (71212570..71302864)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (72082200..72172412)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72972327..73062621)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72740721-72741222 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72741223-72741722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2458 Neighboring gene uncharacterized LOC105378351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72765166-72765964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72800281-72800928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72821681-72822446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72837401-72838351 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72892357-72892910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2459 Neighboring gene Sharpr-MPRA regulatory region 4082 Neighboring gene NANOG hESC enhancer GRCh37_chr10:72975354-72975973 Neighboring gene uncharacterized LOC112268061 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72980575-72981076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72992253-72992763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72992809-72993562 Neighboring gene UNC5B antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72995831-72996578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72995071-72995822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72996579-72997325 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:73006150-73007349 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73019454-73020306 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73025690-73026683 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:73026875-73027596 Neighboring gene Sharpr-MPRA regulatory region 4598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73030481-73031200 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73039115-73039640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:73038590-73039114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73044725-73045226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:73045227-73045726 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:73055217-73056024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:73063697-73064197 Neighboring gene uncharacterized LOC124902445 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2461 Neighboring gene small nucleolar RNA U13 Neighboring gene solute carrier family 29 member 3

    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
    • 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. Clinical significance of UNC5B expression in bladder cancer. Liu J, et al. Tumour Biol, 2013 Aug. PMID 23055195
    2. UNC-5 netrin receptor B regulates adipogenesis of human adipose-derived stem cells through JNK pathway. Hu X, et al. J Oral Rehabil, 2020 Nov. PMID 32762046
    3. The intracellular domain of UNC5B facilities proliferation and metastasis of bladder cancer cells. Huang Y, et al. J Cell Mol Med, 2021 Feb. PMID 33345442, Free PMC Article
    4. Long non-coding RNA PITPNA-AS1 regulates UNC5B expression in papillary thyroid cancer via sponging miR-129-5p. Mei S, et al. Int J Biol Markers, 2021 Mar. PMID 33706585
    5. UNC5B Promotes Vascular Endothelial Cell Senescence via the ROS-Mediated P53 Pathway. Yang Z, et al. Oxid Med Cell Longev, 2021. PMID 34239689, Free PMC Article

    See all (80) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hepatic Expression of NTN4 and Its Receptors in Patients with Hepatocellular Carcinoma.
      Title: Hepatic Expression of NTN4 and Its Receptors in Patients with Hepatocellular Carcinoma.
    2. Netrin-1 induces the anti-apoptotic and pro-survival effects of B-ALL cells through the Unc5b-MAPK axis.
      Title: Netrin-1 induces the anti-apoptotic and pro-survival effects of B-ALL cells through the Unc5b-MAPK axis.
    3. Delta40p53 isoform up-regulates netrin-1/UNC5B expression and potentiates netrin-1 pro-oncogenic activity.
      Title: Δ40p53 isoform up-regulates netrin-1/UNC5B expression and potentiates netrin-1 pro-oncogenic activity.
    4. UNC5B Promotes Vascular Endothelial Cell Senescence via the ROS-Mediated P53 Pathway.
      Title: UNC5B Promotes Vascular Endothelial Cell Senescence via the ROS-Mediated P53 Pathway.
    5. UNC5B mediates G2/M phase arrest of bladder cancer cells by binding to CDC14A and P53.
      Title: UNC5B mediates G2/M phase arrest of bladder cancer cells by binding to CDC14A and P53.
    6. Long non-coding RNA PITPNA-AS1 regulates UNC5B expression in papillary thyroid cancer via sponging miR-129-5p.
      Title: Long non-coding RNA PITPNA-AS1 regulates UNC5B expression in papillary thyroid cancer via sponging miR-129-5p.
    7. The intracellular domain of UNC5B facilities proliferation and metastasis of bladder cancer cells.
      Title: The intracellular domain of UNC5B facilities proliferation and metastasis of bladder cancer cells.
    8. A ligand-insensitive UNC5B splicing isoform regulates angiogenesis by promoting apoptosis.
      Title: A ligand-insensitive UNC5B splicing isoform regulates angiogenesis by promoting apoptosis.
    9. LncRNA UNC5B-AS1 promotes malignant progression of prostate cancer by competitive binding to caspase-9.
      Title: LncRNA UNC5B-AS1 promotes malignant progression of prostate cancer by competitive binding to caspase-9.
    10. Netrin-1 works with UNC5B to regulate angiogenesis in diabetic kidney disease.
      Title: Netrin-1 works with UNC5B to regulate angiogenesis in diabetic kidney disease.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    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
    Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
    EBI GWAS Catalog
    Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in anterior/posterior axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in netrin-activated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    netrin receptor UNC5B
    Names
    p53-regulated receptor for death and life protein 1
    protein unc-5 homolog 2
    protein unc-5 homolog B
    transmembrane receptor Unc5H2
    unc-5 homolog 2
    unc-5 homolog B

    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_001244889.2 → NP_001231818.1  netrin receptor UNC5B isoform 2 precursor

      See identical proteins and their annotated locations for NP_001231818.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate, in-frame, exon in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AK094595, AK128132, AL049370, AY126437, DA810535
      Consensus CDS
      CCDS58083.1
      UniProtKB/Swiss-Prot
      Q8IZJ1
      Related
      ENSP00000362288.4, ENST00000373192.4
      Conserved Domains (5) summary
      smart00218
      Location:530 → 633
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08802
      Location:847 → 930
      Death_UNC5B; Death domain found in Uncoordinated-5B
      smart00209
      Location:249 → 300
      TSP1; Thrombospondin type 1 repeats
      pfam07679
      Location:155 → 243
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:157 → 243
      Ig; Immunoglobulin domain

    2. NM_170744.5 → NP_734465.2  netrin receptor UNC5B isoform 1 precursor

      See identical proteins and their annotated locations for NP_734465.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AK128132, AL049370, AY358351, DA810535
      Consensus CDS
      CCDS7309.1
      UniProtKB/Swiss-Prot
      Q5T3R9, Q5T3S0, Q86SN3, Q8IZJ1, Q8N1Y2, Q9H9F3
      Related
      ENSP00000334329.6, ENST00000335350.10
      Conserved Domains (5) summary
      smart00218
      Location:541 → 644
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08802
      Location:858 → 941
      Death_UNC5B; Death domain found in Uncoordinated-5B
      smart00209
      Location:249 → 300
      TSP1; Thrombospondin type 1 repeats
      pfam07679
      Location:155 → 243
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:157 → 243
      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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      71212570..71302864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      72082200..72172412
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZJ1.2 GenPept UniProtKB/Swiss-Prot:Q8IZJ1

    Gene LinkOut

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

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