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    ROBO4 roundabout guidance receptor 4 [ Homo sapiens (human) ]

    Gene ID: 54538, updated on 2-Nov-2024

    Summary

    Official Symbol
    ROBO4provided by HGNC
    Official Full Name
    roundabout guidance receptor 4provided by HGNC
    Primary source
    HGNC:HGNC:17985
    See related
    Ensembl:ENSG00000154133 MIM:607528; AllianceGenome:HGNC:17985
    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
    MRB; AOVD3; ECSM4
    Summary
    Predicted to enable cell-cell adhesion mediator activity. Involved in establishment of endothelial barrier. Located in extracellular exosome. Implicated in aortic valve disease 3. Biomarker of pre-eclampsia and thyroid gland carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in fat (RPKM 35.9), spleen (RPKM 32.4) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ROBO4 in Genome Data Viewer
    Location:
    11q24.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (124883691..124897865, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (124912311..124926485, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (124753587..124767761, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MSANTD2 antisense RNA 1 Neighboring gene E3 ubiquitin-protein ligase RNF181-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124712489-124713052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124713053-124713614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124732803-124733304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124735644-124736320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:124738370-124738900 Neighboring gene Sharpr-MPRA regulatory region 2144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4035 Neighboring gene roundabout guidance receptor 3 Neighboring gene Sharpr-MPRA regulatory region 10426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124756054-124756568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124756569-124757082 Neighboring gene uncharacterized LOC107984406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:124767654-124768276 Neighboring gene hepatic and glial cell adhesion molecule Neighboring gene hepatocellular carcinoma, down-regulated 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:124823758-124824301 Neighboring gene CCDC15 divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Interaction of SLIT2 with Robo4 significantly inhibits HIV-1 gp120-induced phosphorylation of c-Src in human lymphatic endothelial cells PubMed
    env HIV-1 gp120 induces phosphorylation of fibronectin and enhances a physical association between fibronectin and Robo4 in human lymphatic endothelial cells PubMed
    env The fibronectin domains of Robo4 are critical for HIV-1 gp120-induced hyperpermeability of human lymphatic endothelial cell monolayers PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20798, MGC133352, MGC133353

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cell-cell adhesion mediator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dendrite self-avoidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in establishment of endothelial barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell migration NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    roundabout homolog 4
    Names
    roundabout homolog 4, magic roundabout
    roundabout, axon guidance receptor, homolog 4

    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_001301088.2NP_001288017.1  roundabout homolog 4 isoform 2

      See identical proteins and their annotated locations for NP_001288017.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction at the 5' end of the second exon and starts translation at a downstream AUG compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AF361473, AK302628, AP003501, DC424813
      Consensus CDS
      CCDS73409.1
      UniProtKB/TrEMBL
      B4DYV8
      Related
      ENSP00000437129.1, ENST00000533054.5
      Conserved Domains (3) summary
      smart00410
      Location:175
      IG_like; Immunoglobulin like
      pfam00041
      Location:205287
      fn3; Fibronectin type III domain
      cl11960
      Location:180
      Ig; Immunoglobulin domain
    2. NM_019055.6NP_061928.4  roundabout homolog 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_061928.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF361473, AP003501, DC424813
      Consensus CDS
      CCDS8455.1
      UniProtKB/Swiss-Prot
      A8K154, Q14DU7, Q8TEG1, Q8WZ75, Q96JV6, Q9H718, Q9NWJ8
      Related
      ENSP00000304945.3, ENST00000306534.8
      Conserved Domains (4) summary
      cd05724
      Location:141225
      Ig2_Robo; Second immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
      pfam07679
      Location:139220
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:350432
      fn3; Fibronectin type III domain
      cl11960
      Location:31133
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      124883691..124897865 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718861.3XP_006718924.1  roundabout homolog 4 isoform X1

      Conserved Domains (4) summary
      cd05724
      Location:141225
      Ig2_Robo; Second immunoglobulin (Ig)-like domain in Robo (roundabout) receptors
      pfam07679
      Location:139220
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:350432
      fn3; Fibronectin type III domain
      cl11960
      Location:31133
      Ig; Immunoglobulin domain
    2. XM_011542875.2XP_011541177.1  roundabout homolog 4 isoform X2

      Conserved Domains (1) summary
      PHA03247
      Location:125434
      PHA03247; large tegument protein UL36; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      124912311..124926485 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369168.1XP_054225143.1  roundabout homolog 4 isoform X1

    2. XM_054369169.1XP_054225144.1  roundabout homolog 4 isoform X2