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PLXNA2 plexin A2 [ Homo sapiens (human) ]

Gene ID: 5362, updated on 14-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
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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)

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 neural tube development IEA
Inferred from Electronic Annotation
more info
  
involved_in pharyngeal system development IEA
Inferred from Electronic Annotation
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 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

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