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

    Gene ID: 219699, updated on 5-Mar-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UNC5B in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (71212570..71302864)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (72082200..72172412)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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_001244889.2NP_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:530633
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08802
      Location:847930
      Death_UNC5B; Death domain found in Uncoordinated-5B
      smart00209
      Location:249300
      TSP1; Thrombospondin type 1 repeats
      pfam07679
      Location:155243
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:157243
      Ig; Immunoglobulin domain
    2. NM_170744.5NP_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:541644
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      cd08802
      Location:858941
      Death_UNC5B; Death domain found in Uncoordinated-5B
      smart00209
      Location:249300
      TSP1; Thrombospondin type 1 repeats
      pfam07679
      Location:155243
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:157243
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)