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SEMA6A Gene

protein-coding   GIFtS: 63
GCID: GC05M115807

Sema Domain, Transmembrane Domain (TM), And Cytoplasmic...


(Previous symbol: SEMAQ)
  Search for SEMA6A
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sema Domain, Transmembrane Domain (TM), And Cytoplasmic Domain,
(Semaphorin) 6A1 2
     SEMA6A12
SEMAQ1 2 3     VIA2
Sema VIA1 2 3     Semaphorin 6A-12
Semaphorin VIA2 3     semaphorin-6A2
SEMA6A-12 3     semaphorin-6A-12
HT0182     KIAA13683
SEMA2     Semaphorin-6A-13

External Ids:    HGNC: 107381   Entrez Gene: 575562   Ensembl: ENSG000000924217   OMIM: 6058855   UniProtKB: Q9H2E63   

Export aliases for SEMA6A gene to outside databases

Previous GC identifers: GC05M115548 GC05M116186 GC05M115810 GC05M115855 GC05M115858 GC05M110960


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SEMA6A Gene:
The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper
development of the thalamocortical projection (Leighton et al., 2001 (PubMed 11242070)).(supplied by OMIM, Feb
2011)

GeneCards Summary for SEMA6A Gene:
SEMA6A (sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A) is a protein-coding gene. GO annotations related to this gene include transmembrane signaling receptor activity and semaphorin receptor binding. An important paralog of this gene is SEMA6D.

UniProtKB/Swiss-Prot: SEM6A_HUMAN, Q9H2E6
Function: Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for
normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and
plays an important role in axon guidance in the developing central nervous system. Can act as repulsive axon
guidance cue. Has repulsive action towards migrating granular neurons. May play a role in channeling sympathetic
axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation (By
similarity)

Gene Wiki entry for SEMA6A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEMA6A gene promoter:
         HOXA9B   HOXA9   Sox5   Meis-1b   POU2F1   FOXO4   POU2F1a   Zic1   Pax-4a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SEMA6A promoter sequence
   Search Chromatin IP Primers for SEMA6A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEMA6A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q23.1   Ensembl cytogenetic band:  5q23.1   HGNC cytogenetic band: 5q23

SEMA6A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEMA6A gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M115807:  view genomic region     (about GC identifiers)

Start:
115,779,251 bp from pter      End:
115,910,630 bp from pter
Size:
131,380 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SEM6A_HUMAN, Q9H2E6 (See protein sequence)
Recommended Name: Semaphorin-6A precursor  
Size: 1030 amino acids; 114395 Da
Subunit: Active as a homodimer or oligomer. The SEMA6A homodimer interacts with a PLXNA2 homodimer, giving rise to
a heterotetramer (By similarity). Interacts with EVL
Sequence caution: Sequence=BAA92606.1; Type=Erroneous initiation;
Secondary accessions: Q9P2H9
Alternative splicing: 2 isoforms:  Q9H2E6-1   Q9H2E6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEMA6A: NX_Q9H2E6

Explore proteomics data for SEMA6A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn33, Asn49, Asn65, Asn282, Asn434, Asn461
  • Modification sites at PhosphoSitePlus

  • See SEMA6A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065847.1  
    ENSEMBL proteins: 
     ENSP00000345512   ENSP00000257414   ENSP00000422997   ENSP00000422275   ENSP00000425364  
     ENSP00000424388   ENSP00000421935   ENSP00000425553   ENSP00000282394  
    Reactome Protein details: Q9H2E6

    SEMA6A Human Recombinant Protein Products:

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    Novus Biologicals SEMA6A Protein
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    Sino Biological Recombinant Protein for SEMA6A
    Sino Biological Cell Lysate for SEMA6A
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    Cloud-Clone Corp. Proteins for SEMA6A

     
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    SEMA6A Antibody Products:

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    Cloud-Clone Corp. ELISAs for SEMA6A
    Cloud-Clone Corp. CLIAs for SEMA6A
    Search eBioscience for ELISAs for SEMA6A 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SEMA: Semaphorins

    5 InterPro protein domains:
     IPR002165 Plexin_repeat
     IPR027231 Semaphorin
     IPR001627 Semap_dom
     IPR016201 Plexin-like_fold
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9H2E6

    ProtoNet protein and cluster: Q9H2E6

    1 Blocks protein domain: IPB001627 Semaphorin/CD100 antigen

    UniProtKB/Swiss-Prot: SEM6A_HUMAN, Q9H2E6
    Similarity: Belongs to the semaphorin family
    Similarity: Contains 1 PSI domain
    Similarity: Contains 1 Sema domain


    Find genes that share domains with SEMA6A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SEM6A_HUMAN, Q9H2E6
    Function: Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for
    normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and
    plays an important role in axon guidance in the developing central nervous system. Can act as repulsive axon
    guidance cue. Has repulsive action towards migrating granular neurons. May play a role in channeling sympathetic
    axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation (By
    similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0004888transmembrane signaling receptor activity IEA--
    GO:0005515protein binding IPI10993894
    GO:0030215semaphorin receptor binding IEA--
         
    Find genes that share ontologies with SEMA6A           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sema6a):
     behavior/neurological  nervous system  reproductive system  vision/eye 

    Find genes that share phenotypes with SEMA6A           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEMA6A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SEMA6A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEMA6A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEMA6A

    miRNA
    Products:
        
    miRTarBase miRNAs that target SEMA6A:
    hsa-mir-30c-5p (MIRT047836)

    Block miRNA regulation of human, mouse, rat SEMA6A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEMA6A (see all 86):
    hsa-miR-323-3p hsa-miR-1258 hsa-miR-200a hsa-miR-128 hsa-miR-342-3p hsa-miR-4267 hsa-miR-489 hsa-miR-556-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SEMA6A
    Predesigned siRNA for gene silencing in human, mouse, rat SEMA6A

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SEMA6A (NM_020796)
    Sino Biological Human cDNA Clone for SEMA6A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEMA6A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEMA6A

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEMA6A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SEM6A_HUMAN, Q9H2E6: Cell membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS10993894
    GO:0030424axon NAS10993894

    Find genes that share ontologies with SEMA6A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SEMA6A About    
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    2Semaphorin interactions
    Semaphorin interactions0.43
    Other semaphorin interactions0.00
    3Spinal Cord Injury
    Spinal Cord Injury
    4Axon guidance
    Axon guidance


    Find genes that share SuperPaths with SEMA6A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SEMA6A
        Spinal Cord Injury


    1 Reactome Pathway for SEMA6A
        Other semaphorin interactions


    1 Kegg Pathway  (Kegg details for SEMA6A):
        Axon guidance

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEMA6A
    Interactions:

        Search GeneGlobe Interaction Network for SEMA6A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for SEMA6A (Q9H2E63 ENSP000003455124) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SORBS1Q9BX663, ENSP000003551364I2D: score=3 STRING: ENSP00000360272 STRING: ENSP00000355136
    EVLQ9UI083, ENSP000003766524I2D: score=2 STRING: ENSP00000376652
    PLXNA4Q9HCM23, ENSP000003231944I2D: score=1 STRING: ENSP00000323194
    ITSN2Q9NZM33, ENSP000003472444I2D: score=3 STRING: ENSP00000347244
    SH3RF1Q7Z6J03, ENSP000002846374I2D: score=3 STRING: ENSP00000284637
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0006915apoptotic process NAS10993894
    GO:0007010cytoskeleton organization NAS10993894
    GO:0007166cell surface receptor signaling pathway NAS10993894
    GO:0007275multicellular organismal development ----

    Find genes that share ontologies with SEMA6A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SEMA6A (SEM6A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SEMA6A gene: 
    NM_020796.3  

    Unigene Cluster for SEMA6A:

    Sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
    Hs.156967  [show with all ESTs]
    Unigene Representative Sequence: BC032619
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000343348(uc011cwe.2 uc003krv.4 uc003krw.4 uc010jcj.3 uc010jck.3 uc003krx.4)
    ENST00000257414 ENST00000513137 ENST00000515129 ENST00000503865 ENST00000510263
    ENST00000506114 ENST00000514316 ENST00000503402 ENST00000510024 ENST00000502996
    ENST00000503962 ENST00000515009 ENST00000509665 ENST00000512156 ENST00000282394

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SEMA6A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEMA6A (see all 86):
    hsa-miR-323-3p hsa-miR-1258 hsa-miR-200a hsa-miR-128 hsa-miR-342-3p hsa-miR-4267 hsa-miR-489 hsa-miR-556-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SEMA6A
    Clone
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    OriGene ORF clones in mouse, rat for SEMA6A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SEMA6A (NM_020796)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEMA6A
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat SEMA6A
      QuantiFast Probe-based Assays in human, mouse, rat SEMA6A

    Additional mRNA sequence: 

    AB002438.1 AB002452.1 AB002453.1 AB037789.1 AF225425.1 AF279656.1 AK027439.1 AK027471.1 
    AK027501.1 AK027505.1 AK027654.1 AK027867.1 AK074975.1 AK096337.1 AK128648.1 AK302928.1 
    AK315143.1 BC032619.1 U06699.1 

    24 DOTS entries:

    DT.100774104  DT.100774107  DT.95374279  DT.100725200  DT.409557  DT.117145  DT.97818714  DT.100774105 
    DT.75116834  DT.120815079  DT.91752823  DT.100720332  DT.92436012  DT.100774109  DT.120815004  DT.120815089 
    DT.92017772  DT.95208744  DT.95360670  DT.102835852  DT.439164  DT.453545  DT.95131218  DT.97824836 

    Selected AceView cDNA sequences (see all 282):

    AK027439 BQ440312 F04878 BU738842 N31614 Z39979 BU186963 AB037789 
    BM055373 BE265242 BI051117 AW103702 BQ723018 BE275843 R23737 BE407695 
    AA699968 BM450002 BF510296 BQ024693 N42676 AL544905 AA461382 AI123036 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SEMA6A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGGCAACT
    SEMA6A Expression
    About this image


    SEMA6A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 7 entries
             hIPS1
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Medulla Oblongata
     
     NULL (Uncategorized)
             Mesenchymal Progenitor Cells - Passage 2
     
     Eye (Sensory Organs)
             Retina
     
     Neural Tube (Nervous System)
             Metencephalon
    SEMA6A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEMA6A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.156967
        Custom PCR Arrays for SEMA6A
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SEMA6A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEMA6A
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    QuantiFast Probe-based Assays in human, mouse, rat SEMA6A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEMA6A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SEMA6A gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sema6a1 , 5 sema domain, transmembrane domain (TM), and cytoplasmic more1, 5 89.97(n)1
    95.15(a)1
      18 (25.08 cM)5
    203581  NM_018744.21  NP_061214.21 
     472355985 
    chicken
    (Gallus gallus)
    Aves SEMA6A1 sema domain, transmembrane domain (TM), and cytoplasmic more 82.99(n)
    90.17(a)
      427387  XM_003643072.2  XP_003643120.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEMA6A6
    sema domain, transmembrane domain (TM), and cytopl...
    87(a)
    1 ↔ 1
    GL343193.1(8691171-8874162)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.162392 Xenopus laevis transcribed sequence with moderate similarity more 74.88(n)    CF290712.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj46c122 wufj46c12 75.67(n)   336060  BC061707.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sema-1b3 axon guidance 41(a)
    (best of 4)
        --


    ENSEMBL Gene Tree for SEMA6A (if available)
    TreeFam Gene Tree for SEMA6A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEMA6A gene
    SEMA6D2  SEMA6B2  SEMA6C2  SEMA5A2  SEMA7A2  SEMA5B2  
    9 SIMAP similar genes for SEMA6A using alignment to 7 protein entries:     SEM6A_HUMAN (see all proteins):
    SEMA6D    SEMA6B    SEMA6C    SEMA4A    SEMA3A    SEMA4D
    SEMA3C    SEMA4F    SEMA3B

    Find genes that share paralogs with SEMA6A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SEMA6A (see all 3132)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1119666181,2
    F--111093694(+) TTGTTT/GAAAGG 1 -- us2k12Minor allele frequency- G:0.04CSA WA 120
    rs1388932931,2
    --111093723(+) AATACC/TTGCAT 1 -- us2k10--------
    rs1889021661,2
    --115778789(+) ACAAGA/GAGTAA 1 -- ds50010--------
    rs1481077001,2
    --115778809(+) CCCTCC/TACCTT 1 -- ds50010--------
    rs1156589591,2
    F--115778819(+) TATTAA/GTATGT 1 -- ds50011Minor allele frequency- G:0.01NA 120
    rs1418508911,2
    --115778849(+) CTGTGC/GAAGGA 1 -- ds50010--------
    rs174316891,2
    C,F,H--115778852(+) TGCAAG/TGATCT 1 -- ds500128Minor allele frequency- T:0.12NA NS EA CSA WA 3326
    rs1506057701,2
    --115778971(+) ATGAAC/TAGAAG 1 -- ds50010--------
    rs1410305231,2
    --115779007(+) ATTACC/TGGTGG 1 -- ds50010--------
    rs1448760041,2
    C--115779019(+) TTCTGC/TTAAAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SEMA6A (115779251 - 115910630 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SEMA6A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2730635CNV Deletion23290073
    esv3227CNV Deletion18987735
    esv2549113CNV Deletion19546169
    esv2061795CNV Deletion18987734
    nsv518494CNV Loss19592680
    esv5985CNV Loss19470904
    dgv210n6CNV Loss16902084

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEMA6A
    DNA2.0 Custom Variant and Variant Library Synthesis for SEMA6A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605885    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for SEMA6A:
    Mucopolysaccharidosis

    Find genes that share disorders with SEMA6A           About GenesLikeMe

    Genetic Association Database (GAD): SEMA6A
    Human Genome Epidemiology (HuGE) Navigator: SEMA6A (2 documents)

    Export disorders for SEMA6A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SEMA6A gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with SEMA6A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The orthologous human and murine semaphorin 6A-1 proteins (SEMA6A- 1/Sema6A-1) bind to the enabled/vasodilator-stimulated phosphoprotein- like protein (EVL) via a novel carboxyl-terminal zyxin-like domain. (PubMed id 10993894)1, 2, 3 Klostermann A.... Behl C. (J. Biol. Chem. 2000)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PubMed id 19451621)1, 4 Landers J.E....Brown R.H. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    4. The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations. (PubMed id 19578876)1, 4 Johnson M.P....Moses E.K. (Hum. Genet. 2009)
    5. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    6. Cloning and expression of a novel murine semaphorin with structural similarity to insect semaphorin I. (PubMed id 9204478)1, 3 Zhou L....Snider W.D. (Mol. Cell. Neurosci. 1997)
    7. From plasma membrane to cytoskeleton: a novel function for semaphorin 6A. (PubMed id 18187809)1, 9 Prislei S....Ferlini C. (Mol. Cancer Ther. 2008)
    8. The class 6 semaphorin SEMA6A is induced by interferon-gamma and defines an activation status of langerhans cells observed in pathological situations. (PubMed id 16436660)1, 9 Gautier G....Garrone P. (Am. J. Pathol. 2006)
    9. Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. (PubMed id 23740775)1 Xie G....Siminovitch K.A. (Arthritis Rheum. 2013)
    10. Genome-wide association study of chronic periodontitis in a general German population. (PubMed id 24024966)1 Teumer A....Kocher T. (J. Clin. Periodontol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57556 HGNC: 10738 AceView: SEMA6A Ensembl:ENSG00000092421 euGenes: HUgn57556
    ECgene: SEMA6A Kegg: 57556 H-InvDB: SEMA6A

    (According to HUGE)
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    HUGE: KIAA1368

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SEMA6A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SEMA6A gene:
    Search GeneIP for patents involving SEMA6A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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