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SEMA5A Gene

protein-coding   GIFtS: 62
GCID: GC05M009036

Sema Domain, Seven Thrombospondin Repeats (Type 1 And Type...


(Previous symbol: SEMAF)
  See SEMA5A-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section


Aliases
Sema Domain, Seven Thrombospondin Repeats (Type 1 And Type 1-Like),
Transmembrane Domain (TM) And Short Cytoplasmic Domain, (Semaphorin)
5A1 2
     semaphorin-5A2
SEMAF1 2 3     semaphorin-F2
Sema F2 3     Semaphorin-F3
semF2     SEMF5
Semaphorin F2     

External Ids:    HGNC: 107361   Entrez Gene: 90372   Ensembl: ENSG000001129027   OMIM: 6092975   UniProtKB: Q135913   

Export aliases for SEMA5A gene to outside databases

Previous GC identifiers: GC05M009206 GC05M009071 GC05M009091


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section


Entrez Gene summary for SEMA5A Gene:
This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and
several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural
development. This gene has been implicated as an autism susceptibility gene.(provided by RefSeq, Jan 2010)

GeneCards Summary for SEMA5A Gene:
SEMA5A (sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A) is a protein-coding gene. Diseases associated with SEMA5A include cri-du-chat syndrome. GO annotations related to this gene include axon guidance receptor activity. An important paralog of this gene is SEMA6D.

UniProtKB/Swiss-Prot: SEM5A_HUMAN, Q13591
Function: Bifunctional axonal guidance cue regulated by sulfated proteoglycans; attractive effects result from
interactions with heparan sulfate proteoglycans (HSPGs), while the inhibitory effects depend on interactions with
chondroitin sulfate proteoglycans (CSPGs) (By similarity). Ligand for receptor PLXNB3. In glioma cells, SEMA5A
stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and
cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of
RAC1. May promote angiogenesis by increasing endothelial cell proliferation and migration and inhibiting
apoptosis

Gene Wiki entry for SEMA5A 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)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEMA5A gene promoter:
         GR   GR-beta   Bach2   NCX/Ncx   Tal-1beta   Roaz   E47   Egr-4   GR-alpha   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEMA5A promoter sequence
   Search Chromatin IP Primers for SEMA5A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEMA5A


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

Entrez Gene cytogenetic band: 5p15.2   Ensembl cytogenetic band:  5p15.31   HGNC cytogenetic band: 5p15.2

SEMA5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEMA5A gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M009036:  view genomic region     (about GC identifiers)

Start:
9,035,138 bp from pter      End:
9,546,233 bp from pter
Size:
511,096 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., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or GeneTex.)
About This Section


UniProtKB/Swiss-Prot: SEM5A_HUMAN, Q13591 (See protein sequence)
Recommended Name: Semaphorin-5A precursor  
Size: 1074 amino acids; 120615 Da
Subunit: Binds PLXNB3
Secondary accessions: D3DTC6 O60408 Q1RLL9

Explore the universe of human proteins at neXtProt for SEMA5A: NX_Q13591

Explore proteomics data for SEMA5A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1035
  • Glycosylation2 at Asn142, Asn168, Asn227, Asn277, Asn323, Asn367, Asn437, Asn536, Asn591, Asn717,
                                 Asn933
  • Modification sites at PhosphoSitePlus

  • See SEMA5A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003957.2  
    ENSEMBL proteins: 
     ENSP00000371936   ENSP00000424171   ENSP00000421961   ENSP00000423574  
    Reactome Protein details: Q13591

    SEMA5A Human Recombinant Protein Products:

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    Sino Biological Cell Lysate for SEMA5A
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    Search GeneTex for Proteins for SEMA5A 

     
    antibodies-online proteins for SEMA5A (6 products) 

     
    antibodies-online peptides for SEMA5A

    SEMA5A Antibody Products:

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                        SEMA5A Antibodies
    antibodies-online antibodies for SEMA5A (59 products) 

    SEMA5A Assay Products:

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    antibodies-online kits for SEMA5A (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
    About This Section

    HGNC Gene Families:
    SEMA: Semaphorins

    Selected InterPro protein domains (see all 6):
     IPR000884 Thrombospondin_1_rpt
     IPR002165 Plexin_repeat
     IPR027231 Semaphorin
     IPR001627 Semap_dom
     IPR016201 Plexin-like_fold

    Graphical View of Domain Structure for InterPro Entry Q13591

    ProtoNet protein and cluster: Q13591

    2 Blocks protein domains:
    IPB000884 Thrombospondin
    IPB008085 Thrombospondin type 1 repeat signature


    UniProtKB/Swiss-Prot: SEM5A_HUMAN, Q13591
    Similarity: Belongs to the semaphorin family
    Similarity: Contains 1 PSI domain
    Similarity: Contains 1 Sema domain
    Similarity: Contains 7 TSP type-1 domains


    Find genes that share domains with SEMA5A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway, and/or Taconic Biosciences, CRISPR knockouts from OriGene, 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, Clones from OriGene, GenScript, Sino Biological, 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, Sets of similar genes according to GenesLikeMe)
    About This Section


    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SEM5A_HUMAN, Q13591
    Function: Bifunctional axonal guidance cue regulated by sulfated proteoglycans; attractive effects result from
    interactions with heparan sulfate proteoglycans (HSPGs), while the inhibitory effects depend on interactions with
    chondroitin sulfate proteoglycans (CSPGs) (By similarity). Ligand for receptor PLXNB3. In glioma cells, SEMA5A
    stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and
    cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of
    RAC1. May promote angiogenesis by increasing endothelial cell proliferation and migration and inhibiting
    apoptosis

         Genatlas biochemistry entry for SEMA5A:
    semaphorin 5A,located in the cri-du-chat critical region repellent of the nerve growth cone guidance

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity ----
    GO:0005515protein binding ----
    GO:0008046axon guidance receptor activity IEA--
    GO:0030215semaphorin receptor binding ISS--
    GO:0035373chondroitin sulfate proteoglycan binding ISS--
         
    Find genes that share ontologies with SEMA5A           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Sema5a):
     cardiovascular system  mortality/aging  nervous system  no phenotypic analysis  normal 
     vision/eye 

    Find genes that share phenotypes with SEMA5A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SEMA5A: Sema5atm1Awp Sema5atm1.2Alk

       genOway: Develop your customized and physiologically relevant rodent model for SEMA5A

        Search Taconic Biosciences for animal models for SEMA5A 

    CRISPR Knockouts: 
       OriGene CRISPR knockouts for SEMA5A

    miRNA
    Products:
        
    miRTarBase miRNAs that target SEMA5A:
    hsa-mir-21-5p (MIRT030970)

    Block miRNA regulation of human, mouse, rat SEMA5A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEMA5A (see all 78):
    hsa-miR-3938 hsa-miR-106a hsa-miR-374a hsa-miR-578 hsa-miR-3142 hsa-miR-298 hsa-miR-93 hsa-miR-4325
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEMA5A

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    eBioscience FlowRNA Probe Sets ( VA1-13183) for SEMA5A 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section


    Subcellular locations from UniProtKB/Swiss-Prot
    SEM5A_HUMAN, Q13591: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ISS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with SEMA5A           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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
    About This Section






    SuperPaths for SEMA5A About   (see all 15)  
    See pathways by source

          Powered
    by
         
    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    3ERK Signaling
    ERK Signaling0.61
    Molecular Mechanisms of Cancer0.51
    Rho Family GTPases0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48
    5TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JAK-STAT Pathway0.57
    MAPK Family Pathway0.60
    JNK Pathway0.51


    Find genes that share SuperPaths with SEMA5A           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SEMA5A (see all 54)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Mitochondrial Apoptosis
    Molecular Mechanisms of Cancer


    2 Reactome Pathways for SEMA5A
        Other semaphorin interactions
    O-glycosylation of TSR domain-containing proteins


    1 Kegg Pathway  (Kegg details for SEMA5A):
        Axon guidance

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEMA5A
    Interactions:

        GeneGlobe Interaction Network for SEMA5A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for SEMA5A (ENSP000003719364) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLXNB3ENSP000003553784STRING: ENSP00000355378
    ASCC1ENSP000003204614STRING: ENSP00000320461
    GOPCENSP000003574844STRING: ENSP00000357484
    PLSCR1ENSP000003454944STRING: ENSP00000345494
    BMPERENSP000002971614STRING: ENSP00000297161
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001569patterning of blood vessels IEA--
    GO:0001938positive regulation of endothelial cell proliferation ISS--
    GO:0002043blood vessel endothelial cell proliferation involved in sprouting angiogenesis ISS--
    GO:0007155cell adhesion TAS9049630
    GO:0007267cell-cell signaling TAS9464278

    Find genes that share ontologies with SEMA5A           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, Sets of similar genes according to GenesLikeMe)
    About This Section

    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SEMA5A (SEM5A)



    (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, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section


    REFSEQ mRNAs for SEMA5A gene (4 alternative transcripts): 
    NM_003966.2  XM_006714506.1  XM_006714507.1  XM_006714508.1  

    Unigene Cluster for SEMA5A:

    Sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
    Hs.27621  [show with all ESTs]
    Unigene Representative Sequence: NM_003966
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382496(uc003jek.2) ENST00000514923 ENST00000513968 ENST00000509486

    miRNA
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    hsa-miR-3938 hsa-miR-106a hsa-miR-374a hsa-miR-578 hsa-miR-3142 hsa-miR-298 hsa-miR-93 hsa-miR-4325
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    Additional mRNA sequence: 

    AF009261.1 AF009314.1 AF056434.1 AK022877.1 AK293441.1 AK307587.1 BC115696.1 U52840.1 

    14 DOTS entries:

    DT.95160536  DT.113861  DT.100755049  DT.87011555  DT.99972722  DT.120803714  DT.120803744  DT.115946 
    DT.95160537  DT.100755051  DT.120803709  DT.120803804  DT.91666333  DT.91964892 

    Selected AceView cDNA sequences (see all 187):

    AA708824 AA382849 BM997547 AL041544 CR617973 BM706331 BG286393 BM699429 
    AI422963 BQ954080 CA429731 BE674025 AI224370 BM699323 AA708825 AI127735 
    CK823023 BM669539 AU118721 AI805909 BQ018998 BM670076 BM702204 H06996 

    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 GenesLikeMe, 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)
    About This Section

    SEMA5A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SEMA5A Expression
    About this image


    SEMA5A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             S-shaped Body Cells S-shaped Body
             Metanephros
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Gonad
             Mesonephric cells Mesonephros
             Mullerian duct
     
     Intermediate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Mesonephric cells Mesonephros
             Mesonephros
    SEMA5A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEMA5A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.27621
        Custom PCR Arrays for SEMA5A
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEMA5A

    (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)
    About This Section


    This gene was present in the common ancestor of animals.

    Orthologs for SEMA5A gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sema5a1 , 5 sema domain, seven thrombospondin repeats (type 1 and more1, 5 87.74(n)1
    94.13(a)1
      15 (13.02 cM)5
    203561  NM_009154.21  NP_033180.21 
     322448135 
    chicken
    (Gallus gallus)
    Aves SEMA5A1 sema domain, seven thrombospondin repeats (type 1 and more 79.4(n)
    88.26(a)
      420931  XM_419016.4  XP_419016.3 
    lizard
    (Anolis carolinensis)
    Reptilia SEMA5A6
    sema domain, seven thrombospondin repeats (type 1 ...
    84(a)
    1 ↔ 1
    4(82305237-82501588)
    zebrafish
    (Danio rerio)
    Actinopterygii sema5a1 sema domain, seven thrombospondin repeats (type 1 and more 74.45(n)
    81.04(a)
      561295  NM_001271670.1  NP_001258599.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sema-1a3 axon guidance 39(a)
    (best of 5)
        --


    ENSEMBL Gene Tree for SEMA5A (if available)
    TreeFam Gene Tree for SEMA5A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for SEMA5A gene
    SEMA6D2  SEMA6B2  SEMA6C2  SEMA6A2  SEMA7A2  SEMA5B2  
    9 SIMAP similar genes for SEMA5A using alignment to 4 protein entries:     SEM5A_HUMAN (see all proteins):
    SEMA5B    SEMA6D    SEMA4F    SEMA4A    SEMA3F    SEMA3C
    SEMA4B    SEMA4C    SEMA4G

    Find genes that share paralogs with SEMA5A           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for SEMA5A
    PGOHUM00000235118 PGOHUM00000235501


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and 4UniProtKB, 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)
    About This Section


    Selected SNPs for SEMA5A (see all 11658)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs744935551,2
    F--8995438(+) GCATGT/CATATT 1 -- ds50011Minor allele frequency- C:0.01WA 118
    rs14577681,2
    C,F,O,H--8995469(-) TTTCAA/CTGTTC 1 -- ds500111Minor allele frequency- C:0.07NS EA NA WA 804
    rs1817563281,2
    --8995574(+) TTTTAC/TGCAAA 1 -- ds50010--------
    rs1150024811,2
    C,F--8995615(+) GGTAAG/ATATAA 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1501880661,2
    --8995628(+) CAACTC/GAATGC 1 -- ds50010--------
    rs1856641041,2
    --8995685(+) CCTAAC/TTGGCC 1 -- ds50010--------
    rs168818711,2
    C,F,H--8995791(+) GAAGAT/CAAACA 1 -- ds50019Minor allele frequency- C:0.05NA NS EA 738
    rs29259291,2
    C,F--8995816(+) TTTCCA/G/TCAGCA 1 -- ds500110NA WA CSA EA 370
    rs1902760911,2
    --8995829(+) AAGTGA/GTCTGC 1 -- ds50010--------
    rs1458850771,2
    C--8995899(+) AGACCA/GCACAC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SEMA5A (9035138 - 9285138 bp, first 250kb of SEMA5A)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SEMA5A (see all 41):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2729727CNV Deletion23290073
    esv5211CNV Deletion18987735
    esv2729723CNV Deletion23290073
    dgv28e194CNV Deletion18987734
    esv2490802CNV Deletion19546169
    esv1762654CNV Deletion17803354
    esv2729725CNV Deletion23290073
    esv1002666CNV Deletion20482838
    esv4882CNV Deletion18987735
    esv1376619CNV Deletion17803354

    Human Gene Mutation Database (HGMD): SEMA5A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEMA5A

    (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, Sets of similar genes according to GenesLikeMe)
    About This Section

    OMIM gene information: 609297    OMIM disorders: --

    1 disease for SEMA5A:    
    About MalaCards
    cri-du-chat syndrome


    Find genes that share disorders with SEMA5A           About GenesLikeMe

    Genetic Association Database (GAD): SEMA5A
    Human Genome Epidemiology (HuGE) Navigator: SEMA5A (12 documents)

    Export disorders for SEMA5A 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)
    About This Section


    PubMed articles for SEMA5A gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with SEMA5A)

    1. Molecular cloning and mapping of human semaphorin F from the Cri-du- chat candidate interval. (PubMed id 9464278)1, 2, 3, 9 Simmons A.D.... Lovett M. (Biochem. Biophys. Res. Commun. 1998)
    2. Plexin-B3 is a functional receptor for semaphorin 5A. (PubMed id 15218527)1, 2, 9 Artigiani S.... Tamagnone L. (EMBO Rep. 2004)
    3. [Correlation study of semaphorin 5a with risk of Parkinson's disease in a Chinese Han population]. (PubMed id 19957501)1, 4, 9 Dong H.R....Ding X.S. (Zhonghua Yi Xue Za Zhi 2009)
    4. Association study of semaphorin 5A with risk of Parkinson's disease in a Chinese Han population. (PubMed id 18950607)1, 4, 9 Ding H....Zhang Q. (Brain Res. 2008)
    5. Polymorphism in semaphorin 5A (Sema5A) gene is not a marker of Parkinson's disease risk. (PubMed id 16481103)1, 4, 9 Bialecka M....Drozdzik M. (Neurosci. Lett. 2006)
    6. Semaphorin 5A and plexin-B3 regulate human glioma cell motility and morphology through Rac1 and the actin cytoskeleton. (PubMed id 21706053)1, 2 Li X.... Lee A.Y. (Oncogene 2012)
    7. 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)
    8. Semaphorin 5A and plexin-B3 inhibit human glioma cell motility through RhoGDIalpha-mediated inactivation of Rac1 GTPase. (PubMed id 20696765)1, 2 Li X. and Lee A.Y. (J. Biol. Chem. 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. A genome-wide linkage and association scan reveals novel loci for autism. (PubMed id 19812673)1, 4 Weiss L.A....Chakravarti A. (Nature 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9037 HGNC: 10736 AceView: SEMA5A Ensembl:ENSG00000112902 euGenes: HUgn9037
    ECgene: SEMA5A Kegg: 9037 H-InvDB: SEMA5A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SEMA5A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SEMA5A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SEMA5A gene:
    Search GeneIP for patents involving SEMA5A

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Clones from OriGene, GenScript, Sino Biological, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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    CRISPR knockouts from OriGene)
    About This Section


     
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