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    PLXNA2 plexin A2 [ Homo sapiens (human) ]

    Gene ID: 5362, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PLXNA2provided by HGNC
    Official Full Name
    plexin A2provided by HGNC
    Primary source
    HGNC:HGNC:9100
    See related
    Ensembl:ENSG00000076356 MIM:601054; AllianceGenome:HGNC:9100
    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
    OCT; PLXN2
    Summary
    This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 8.4), lung (RPKM 6.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLXNA2 in Genome Data Viewer
    Location:
    1q32.2
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (208022242..208244384, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (207268990..207491104, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (208195587..208417729, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985253 Neighboring gene NANOG hESC enhancer GRCh37_chr1:208091350-208091981 Neighboring gene CD34 molecule Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:208131807-208132308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:208132309-208132808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:208137516-208138045 Neighboring gene long intergenic non-protein coding RNA 2767 Neighboring gene uncharacterized LOC105372887 Neighboring gene uncharacterized LOC124904499 Neighboring gene uncharacterized LOC124904500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:208332738-208333250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:208333251-208333761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:208347975-208348475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:208352531-208353087 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:208353211-208354164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:208371351-208371856 Neighboring gene Sharpr-MPRA regulatory region 4965 Neighboring gene uncharacterized LOC105372884 Neighboring gene Sharpr-MPRA regulatory region 12529 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:208416267-208416768 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:208416769-208417268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1777 Neighboring gene uncharacterized LOC105372889 Neighboring gene uncharacterized LOC124904501 Neighboring gene NANOG hESC enhancer GRCh37_chr1:208443936-208444517 Neighboring gene MPRA-validated peak670 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:208547462-208548227 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:208551780-208552116 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:208586461-208586653 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1772 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1780 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1801 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:208618537-208619736 Neighboring gene uncharacterized LOC107985460

    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. Plexin-A2 enables the proliferation and the development of tumors from glioblastoma derived cells. Toledano S, et al. Cell Death Dis, 2023 Jan 19. PMID 36658114, Free PMC Article
    2. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. Silversides CK, et al. PLoS Genet, 2012. PMID 22912587, Free PMC Article
    3. Identification of the semaphorin receptor plexin-A2 as a candidate gene for susceptibility to ankylosing spondylitis. Chatzikyriakidou A, et al. Clin Exp Rheumatol, 2011 Sep-Oct. PMID 22011406
    4. Multicenter, randomized, double-blind, active comparator and placebo-controlled trial of a corticotropin-releasing factor receptor-1 antagonist in generalized anxiety disorder. Coric V, et al. Depress Anxiety, 2010 May. PMID 20455246
    5. No association between schizophrenia and polymorphisms of the PlexinA2 gene in Chinese Han Trios. Budel S, et al. Schizophr Res, 2008 Feb. PMID 18096369, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Plexin-A2 enables the proliferation and the development of tumors from glioblastoma derived cells.
      Title: Plexin-A2 enables the proliferation and the development of tumors from glioblastoma derived cells.
    2. PLXNA2 as a candidate gene in patients with intellectual disability.
      Title: PLXNA2 as a candidate gene in patients with intellectual disability.
    3. PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.
      Title: PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.
    4. Data suggest that Fyn tyrosine kinase (Fyn)-dependent phosphorylation at two critical tyrosines is a key feature of vertebrate plexin A1 (PlxnA1) and plexin A2 (PlxnA2) signal transduction.
      Title: Fyn-dependent phosphorylation of PlexinA1 and PlexinA2 at conserved tyrosines is essential for zebrafish eye development.
    5. Data indicate that plexin A1-4 (PLXNA1-4) mediation of neuroanatomical traits can be detected using in vivo neuroimaging techniques.
      Title: PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure.
    6. although plexin-A4 overexpression restored Sema3A signaling in plexin-A1-silenced cells, it failed to restore Sema3B signaling in plexin-A2-silenced cells.
      Title: The role of the plexin-A2 receptor in Sema3A and Sema3B signal transduction.
    7. PLXNA2 upregulation contributes to TMPRSS2:ERG-mediated enhancements of PC3c cell migration and invasion.
      Title: Identification of novel TMPRSS2:ERG mechanisms in prostate cancer metastasis: involvement of MMP9 and PLXNA2.
    8. PLXNA2 has been identified as a new rare copy number variations gene for tetralogy of Fallot.
      Title: Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.
    9. results of our study reveal that PlxnA2 has a pro-osteogenic function by modulating BMP2 signaling
      Title: PlexinA2 mediates osteoblast differentiation via regulation of Runx2.
    10. PLXNA2 polymorphisms show association with ankylosing spondylitis.
      Title: Identification of the semaphorin receptor plexin-A2 as a candidate gene for susceptibility to ankylosing spondylitis.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    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
    Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
    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)

    Genotypes

    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

    Clone Names

    • FLJ11751, FLJ30634, KIAA0463

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables semaphorin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables semaphorin receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in centrosome localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cerebellar granule cell precursor tangential migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in limb bud formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neural tube development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pharyngeal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of axonogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in semaphorin-plexin signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in semaphorin-plexin signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of semaphorin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of semaphorin receptor complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    plexin-A2
    Names
    plexin 2
    semaphorin receptor OCT
    transmembrane protein OCT

    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_025179.4 → NP_079455.3  plexin-A2 precursor

      See identical proteins and their annotated locations for NP_079455.3

      Status: REVIEWED

      Source sequence(s)
      AB007932, AL356275, AL544219, AL606753, DA500239, H11743, X87831
      Consensus CDS
      CCDS31013.1
      UniProtKB/Swiss-Prot
      A2RTX9, B2RMX7, O75051, Q6UX61, Q96GN9, Q9BRL1, Q9UIW1
      Related
      ENSP00000356000.3, ENST00000367033.4
      Conserved Domains (7) summary
      cd11272
      Location:38 → 552
      Sema_plexin_A2; The Sema domain, a protein interacting module, of Plexin A2
      cd01179
      Location:954 → 1037
      IPT_plexin_repeat2; Second repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01180
      Location:858 → 953
      IPT_plexin_repeat1; First repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01181
      Location:1041 → 1141
      IPT_plexin_repeat3; Third repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      pfam01437
      Location:806 → 855
      PSI; Plexin repeat
      pfam01833
      Location:1143 → 1227
      TIG; IPT/TIG domain
      pfam08337
      Location:1311 → 1864
      Plexin_cytopl; Plexin cytoplasmic RasGAP 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      208022242..208244384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273164.4 → XP_005273221.1  plexin-A2 isoform X1

      Conserved Domains (7) summary
      cd11272
      Location:53 → 567
      Sema_plexin_A2; The Sema domain, a protein interacting module, of Plexin A2
      cd01179
      Location:969 → 1052
      IPT_plexin_repeat2; Second repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01180
      Location:873 → 968
      IPT_plexin_repeat1; First repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01181
      Location:1056 → 1156
      IPT_plexin_repeat3; Third repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      pfam01437
      Location:821 → 870
      PSI; Plexin repeat
      pfam01833
      Location:1158 → 1242
      TIG; IPT/TIG domain
      pfam08337
      Location:1326 → 1944
      Plexin_cytopl; Plexin cytoplasmic RasGAP domain

    2. XM_005273165.5 → XP_005273222.1  plexin-A2 isoform X2

      Conserved Domains (7) summary
      cd11272
      Location:53 → 567
      Sema_plexin_A2; The Sema domain, a protein interacting module, of Plexin A2
      cd01179
      Location:969 → 1052
      IPT_plexin_repeat2; Second repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01180
      Location:873 → 968
      IPT_plexin_repeat1; First repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      cd01181
      Location:1056 → 1156
      IPT_plexin_repeat3; Third repeat of the IPT domain of Plexins and Cell Surface Receptors (PCSR) . Plexins are involved in the regulation of cell proliferation and of cellular adhesion and repulsion receptors. In general, there are three copies of the IPT domain present ...
      pfam01437
      Location:821 → 870
      PSI; Plexin repeat
      pfam01833
      Location:1158 → 1242
      TIG; IPT/TIG domain
      pfam08337
      Location:1326 → 1823
      Plexin_cytopl; Plexin cytoplasmic RasGAP domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      207268990..207491104 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337094.1 → XP_054193069.1  plexin-A2 isoform X1

    2. XM_054337095.1 → XP_054193070.1  plexin-A2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75051.4 GenPept UniProtKB/Swiss-Prot:O75051

    Gene LinkOut

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

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