Human Gene PLXNA2 (uc001hgy.3) Description and Page Index
  Description: Homo sapiens plexin A2 (PLXNA2), mRNA.
RefSeq Summary (NM_025179): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.267831.1, SRR1660805.204651.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: downstream AUG is associated with N-terminal localization signal MANE Ensembl match :: ENST00000367033.4/ ENSP00000356000.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr1:208,195,588-208,202,551 Size: 6,964 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr1:208,200,588-208,202,422 Size: 1,835 Coding Exon Count: 3 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:208,195,588-208,202,551)mRNA (may differ from genome)Protein (164 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PLXNA2
CDC HuGE Published Literature: PLXNA2
Positive Disease Associations: anxiety depression neuroticism psychological distress , Blood Pressure , Blood Pressure Determination , bone density fractures, vertebral osteoporosis, postmenopausal , Cardiomegaly , Cardiovascular Diseases , Hip , Life Expectancy , Myocardial Infarction , Neuroblastoma , Triglycerides
Related Studies:
  1. anxiety depression neuroticism psychological distress
    Wray, N. R. et al. 2007, Anxiety and Comorbid Measures Associated With PLXNA2, Arch Gen Psychiatry 2007 64(3) 318-326. [PubMed 17339520]
    PLXNA2 is a candidate for causal variation in anxiety and in other psychiatric disorders through its comorbidity with anxiety.
  2. Blood Pressure
    Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics. [PubMed 17903302]
    These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
  3. Blood Pressure Determination
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: PLXNA2
Diseases sorted by gene-association score: disuse amblyopia (16), hidradenoma (6), tetralogy of fallot (2), schizophrenia (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.06 RPKM in Brain - Cerebellum
Total median expression: 268.65 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.00129-0.302 Picture PostScript Text
3' UTR -1735.875000-0.347 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013548 - Plexin_cytoplasmic_RasGAP_dom
IPR008936 - Rho_GTPase_activation_prot

Pfam Domains:
PF08337 - Plexin cytoplasmic RasGAP domain

SCOP Domains:
48350 - GTPase activation domain, GAP

ModBase Predicted Comparative 3D Structure on Q9HAE7
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0017154 semaphorin receptor activity

Biological Process:
GO:0007165 signal transduction
GO:0071526 semaphorin-plexin signaling pathway

-  Descriptions from all associated GenBank mRNAs
  JA482210 - Sequence 193 from Patent WO2011072091.
JE980502 - Sequence 193 from Patent EP2862929.
AB007932 - Homo sapiens KIAA0463 mRNA for KIAA0463 protein.
BC132676 - Homo sapiens plexin A2, mRNA (cDNA clone MGC:164307 IMAGE:40146698), complete cds.
BC136530 - Homo sapiens plexin A2, mRNA (cDNA clone MGC:168143 IMAGE:9020520), complete cds.
KJ904527 - Synthetic construct Homo sapiens clone ccsbBroadEn_13921 PLXNA2-like gene, encodes complete protein.
AB383888 - Synthetic construct DNA, clone: pF1KSDA0463, Homo sapiens PLXNA2 gene for plexin-A2 precursor, complete cds, without stop codon, in Flexi system.
X87831 - Homo sapiens mRNA for partial OCT/plexin-A2 protein.
AK094259 - Homo sapiens cDNA FLJ36940 fis, clone BRACE2005453.
AK055196 - Homo sapiens cDNA FLJ30634 fis, clone CTONG2002453.
AK125154 - Homo sapiens cDNA FLJ43164 fis, clone FCBBF3001977.
JD394665 - Sequence 375689 from Patent EP1572962.
JD245322 - Sequence 226346 from Patent EP1572962.
JD429849 - Sequence 410873 from Patent EP1572962.
JD535501 - Sequence 516525 from Patent EP1572962.
JD137526 - Sequence 118550 from Patent EP1572962.
JD540473 - Sequence 521497 from Patent EP1572962.
JD309357 - Sequence 290381 from Patent EP1572962.
JD232869 - Sequence 213893 from Patent EP1572962.
JD402377 - Sequence 383401 from Patent EP1572962.
JD316892 - Sequence 297916 from Patent EP1572962.
JD402005 - Sequence 383029 from Patent EP1572962.
JD261823 - Sequence 242847 from Patent EP1572962.
JD155128 - Sequence 136152 from Patent EP1572962.
JD313538 - Sequence 294562 from Patent EP1572962.
JD188422 - Sequence 169446 from Patent EP1572962.
JD313965 - Sequence 294989 from Patent EP1572962.
JD274124 - Sequence 255148 from Patent EP1572962.
JD263376 - Sequence 244400 from Patent EP1572962.
JD272350 - Sequence 253374 from Patent EP1572962.
JD491641 - Sequence 472665 from Patent EP1572962.
JD154037 - Sequence 135061 from Patent EP1572962.
JD199923 - Sequence 180947 from Patent EP1572962.
JD434835 - Sequence 415859 from Patent EP1572962.
JD224398 - Sequence 205422 from Patent EP1572962.
JD402108 - Sequence 383132 from Patent EP1572962.
JD117379 - Sequence 98403 from Patent EP1572962.
JD269830 - Sequence 250854 from Patent EP1572962.
JD041902 - Sequence 22926 from Patent EP1572962.
JD238670 - Sequence 219694 from Patent EP1572962.
JD162567 - Sequence 143591 from Patent EP1572962.
JD291242 - Sequence 272266 from Patent EP1572962.
JD515566 - Sequence 496590 from Patent EP1572962.
JD392973 - Sequence 373997 from Patent EP1572962.
JD159283 - Sequence 140307 from Patent EP1572962.
JD185494 - Sequence 166518 from Patent EP1572962.
JD428990 - Sequence 410014 from Patent EP1572962.
JD479376 - Sequence 460400 from Patent EP1572962.
JD189261 - Sequence 170285 from Patent EP1572962.
JD209035 - Sequence 190059 from Patent EP1572962.
JD557724 - Sequence 538748 from Patent EP1572962.
JD357574 - Sequence 338598 from Patent EP1572962.
JD370758 - Sequence 351782 from Patent EP1572962.
JD364041 - Sequence 345065 from Patent EP1572962.
JD414094 - Sequence 395118 from Patent EP1572962.
JD355734 - Sequence 336758 from Patent EP1572962.
JD159368 - Sequence 140392 from Patent EP1572962.
JD042667 - Sequence 23691 from Patent EP1572962.
JD412191 - Sequence 393215 from Patent EP1572962.
JD507989 - Sequence 489013 from Patent EP1572962.
AK021813 - Homo sapiens cDNA FLJ11751 fis, clone HEMBA1005576, moderately similar to Mus musculus mRNA for plexin 2.
JD560292 - Sequence 541316 from Patent EP1572962.
JD265618 - Sequence 246642 from Patent EP1572962.
JD407136 - Sequence 388160 from Patent EP1572962.
JD275106 - Sequence 256130 from Patent EP1572962.
JD382217 - Sequence 363241 from Patent EP1572962.
JD440145 - Sequence 421169 from Patent EP1572962.
JD302070 - Sequence 283094 from Patent EP1572962.
AK094367 - Homo sapiens cDNA FLJ37048 fis, clone BRACE2012291, moderately similar to PLEXIN 4 PRECURSOR.
JD442081 - Sequence 423105 from Patent EP1572962.
JD269782 - Sequence 250806 from Patent EP1572962.
JD377229 - Sequence 358253 from Patent EP1572962.
JD554355 - Sequence 535379 from Patent EP1572962.
JD161868 - Sequence 142892 from Patent EP1572962.
JD358680 - Sequence 339704 from Patent EP1572962.
JD155390 - Sequence 136414 from Patent EP1572962.
JD290670 - Sequence 271694 from Patent EP1572962.
BC032125 - Homo sapiens plexin A2, mRNA (cDNA clone IMAGE:4900279).
BC094835 - Homo sapiens plexin A2, mRNA (cDNA clone IMAGE:3528623), containing frame-shift errors.
BC006193 - Homo sapiens plexin A2, mRNA (cDNA clone IMAGE:3844911), partial cds.
BC009343 - Homo sapiens plexin A2, mRNA (cDNA clone IMAGE:4130636), partial cds.
JD174579 - Sequence 155603 from Patent EP1572962.
JD196340 - Sequence 177364 from Patent EP1572962.
JD518249 - Sequence 499273 from Patent EP1572962.
JD205118 - Sequence 186142 from Patent EP1572962.
JD368672 - Sequence 349696 from Patent EP1572962.
JD482161 - Sequence 463185 from Patent EP1572962.
JD186041 - Sequence 167065 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04360 - Axon guidance

-  Other Names for This Gene
  Alternate Gene Symbols: BC094835, Q9HAE7, Q9HAE7_HUMAN
UCSC ID: uc001hgy.3
RefSeq Accession: NM_025179
Protein: Q9HAE7

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: BC094835.1
exon count: 3CDS single in 3' UTR: no RNA size: 1014
ORF size: 495CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1047.00frame shift in genome: no % Coverage: 96.35
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 164# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.