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

Gene ID: 219699, updated on 12-Jul-2020

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
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

Genomic context

See UNC5B in Genome Data Viewer
Location:
10q22.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (71212535..71302879)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72972292..73062635)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378350 Neighboring gene uncharacterized LOC105378351 Neighboring gene uncharacterized LOC107987148 Neighboring gene uncharacterized LOC112268061 Neighboring gene UNC5B antisense RNA 1 Neighboring gene uncharacterized LOC105378353 Neighboring gene solute carrier family 29 member 3 Neighboring gene uncharacterized LOC105378356 Neighboring gene cadherin related 23

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

NHGRI GWAS Catalog

Description
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
NHGRI GWA Catalog
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
netrin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
netrin-activated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of phosphatidylinositol 3-kinase signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
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)

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
    Q8IZJ1
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    71212535..71302879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539453.2XP_011537755.1  netrin receptor UNC5B isoform X1

    Conserved Domains (5) summary
    smart00218
    Location:536639
    ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
    cd08802
    Location:853936
    Death_UNC5B; Death domain found in Uncoordinated-5B
    smart00209
    Location:244295
    TSP1; Thrombospondin type 1 repeats
    pfam07679
    Location:150238
    I-set; Immunoglobulin I-set domain
    cl11960
    Location:152238
    Ig; Immunoglobulin domain
  2. XM_017015834.2XP_016871323.1  netrin receptor UNC5B isoform X2

  3. XM_017015835.2XP_016871324.1  netrin receptor UNC5B isoform X2

RNA

  1. XR_002956966.1 RNA Sequence

  2. XR_945617.1 RNA Sequence

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