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SEMA4A Gene

protein-coding   GIFtS: 61
GCID: GC01P156119

Sema Domain, Immunoglobulin Domain (Ig), Transmembrane Domain...


(Previous symbol: SEMAB)
  See SEMA4A-related diseases
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, Immunoglobulin Domain (Ig), Transmembrane Domain (TM) And
Short Cytoplasmic Domain, (Semaphorin) 4A1 2
     RP352 5
SEMAB1 2 3     semaphorin-4A2
SEMB2 3 5     semaphorin-B2
Sema B2 3     Semaphorin-B3
CORD102 5     

External Ids:    HGNC: 107291   Entrez Gene: 642182   Ensembl: ENSG000001961897   OMIM: 6072925   UniProtKB: Q9H3S13   

Export aliases for SEMA4A gene to outside databases

Previous GC identifers: GC00U990481 GC01P153341 GC01P152934 GC01P154386 GC01P127481


(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 SEMA4A Gene:
This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are
involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The
encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI
domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories
inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular
endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis
in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa
type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants
encoding different isoforms have been identified.(provided by RefSeq, Sep 2010)

GeneCards Summary for SEMA4A Gene:
SEMA4A (sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A) is a protein-coding gene. Diseases associated with SEMA4A include cone-rod dystrophy 10, and sema4a-related retinitis pigmentosa. GO annotations related to this gene include receptor activity. An important paralog of this gene is SEMA3C.

UniProtKB/Swiss-Prot: SEM4A_HUMAN, Q9H3S1
Function: Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell
signaling. Plays a role in priming antigen-specific T-cells, promotes differentiation of Th1 T-helper cells, and
thereby contributes to adaptive immunity. Promotes phosphorylation of TIMD2. Inhibits angiogenesis. Promotes axon
growth cone collapse. Inhibits axonal extension by providing local signals to specify territories inaccessible
for growing axons (By similarity)

Gene Wiki entry for SEMA4A 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_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEMA4A gene promoter:
         c-Fos   Max1   AP-1   Pax-5   Lmo2   Arnt   C/EBPalpha   HEN1   c-Jun   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEMA4A promoter sequence
   Search Chromatin IP Primers for SEMA4A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEMA4A


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

Entrez Gene cytogenetic band: 1q22   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q22

SEMA4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEMA4A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P156119:  view genomic region     (about GC identifiers)

Start:
156,117,157 bp from pter      End:
156,147,543 bp from pter
Size:
30,387 bases      Orientation:
plus 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, and/or antibodies-online,
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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SEM4A_HUMAN, Q9H3S1 (See protein sequence)
Recommended Name: Semaphorin-4A precursor  
Size: 761 amino acids; 83574 Da
Subunit: Interacts with PLXNB1, PLXNB2, PLXNB3 and PLXND1. Probable ligand for TIMD2 (By similarity)
Secondary accessions: B2RDH8 B3KR76 Q5TCI5 Q5TCJ6 Q8WUA9
Alternative splicing: 2 isoforms:  Q9H3S1-1   Q9H3S1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEMA4A: NX_Q9H3S1

Explore proteomics data for SEMA4A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys219, Lys535
  • Glycosylation2 at Asn120, Asn135, Asn496, Asn607
  • Modification sites at PhosphoSitePlus

  • See SEMA4A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001180229.1  NP_001180230.1  NP_001180231.1  NP_071762.2  

    ENSEMBL proteins: 
     ENSP00000401391   ENSP00000399230   ENSP00000347117   ENSP00000357268   ENSP00000357267  
     ENSP00000392865   ENSP00000357265   ENSP00000357269  
    Reactome Protein details: Q9H3S1

    SEMA4A Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for SEMA4A
    Sino Biological Cell Lysate for SEMA4A
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    Cloud-Clone Corp. Proteins for SEMA4A

     
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    antibodies-online proteins for SEMA4A (5 products) 

     
    antibodies-online peptides for SEMA4A

    SEMA4A Antibody Products:

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    antibodies-online antibodies for SEMA4A (56 products) 

    SEMA4A Assay Products:

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    (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 Q9H3S1

    ProtoNet protein and cluster: Q9H3S1

    1 Blocks protein domain: IPB001627 Semaphorin/CD100 antigen

    UniProtKB/Swiss-Prot: SEM4A_HUMAN, Q9H3S1
    Similarity: Belongs to the semaphorin family
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 1 PSI domain
    Similarity: Contains 1 Sema domain


    Find genes that share domains with SEMA4A           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: SEM4A_HUMAN, Q9H3S1
    Function: Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell
    signaling. Plays a role in priming antigen-specific T-cells, promotes differentiation of Th1 T-helper cells, and
    thereby contributes to adaptive immunity. Promotes phosphorylation of TIMD2. Inhibits angiogenesis. Promotes axon
    growth cone collapse. Inhibits axonal extension by providing local signals to specify territories inaccessible
    for growing axons (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IEA--
    GO:0005515protein binding IPI17318185
         
    Find genes that share ontologies with SEMA4A           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Sema4a):
     cellular  hematopoietic system  immune system  nervous system  pigmentation 
     vision/eye 

    Find genes that share phenotypes with SEMA4A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Sema4atm1Kik for SEMA4A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEMA4A
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    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate SEMA4A:
    hsa-miR-10b* hsa-miR-4328 hsa-miR-4330 hsa-miR-1182 hsa-miR-24 hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidSEMA4A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SEMA4A

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 4): SEMA4A (NM_022367)
    Sino Biological Human cDNA Clone for SEMA4A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEMA4A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEMA4A

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEMA4A

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    (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
    SEM4A_HUMAN, Q9H3S1: Cell membrane; Single-pass type I membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

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

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

    Find genes that share ontologies with SEMA4A           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 SEMA4A 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
    3Axon guidance
    Axon guidance


    Find genes that share SuperPaths with SEMA4A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for SEMA4A
        Other semaphorin interactions


    1 Kegg Pathway  (Kegg details for SEMA4A):
        Axon guidance

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEMA4A
    Interactions:

        Search GeneGlobe Interaction Network for SEMA4A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for SEMA4A (Q9H3S11, 2, 3 ENSP000003471174) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLXNB1O431572, 3, ENSP000002964404MINT-4507855 I2D: score=1 STRING: ENSP00000296440
    PLXNB3Q9ULL42, 3, ENSP000003553784MINT-4507872 I2D: score=1 STRING: ENSP00000355378
    PLXND1Q9Y4D71, 2, 3, ENSP000003171284EBI-3924922,EBI-310731 MINT-4507879 MINT-4507918 I2D: score=2 STRING: ENSP00000317128
    PLXNB2O150312, 3, ENSP000003522884MINT-4507865 I2D: score=1 STRING: ENSP00000352288
    HAVCR1Q96D423, ENSP000003448444I2D: score=1 STRING: ENSP00000344844
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0002292T cell differentiation involved in immune response ----
    GO:0007275multicellular organismal development ----
    GO:0007409axonogenesis ----
    GO:0007411axon guidance TAS--

    Find genes that share ontologies with SEMA4A           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 SEMA4A (SEM4A)



    (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 SEMA4A gene (4 alternative transcripts): 
    NM_001193300.1  NM_001193301.1  NM_001193302.1  NM_022367.3  

    Unigene Cluster for SEMA4A:

    Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
    Hs.408846  [show with all ESTs]
    Unigene Representative Sequence: NM_022367
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000435124 ENST00000414683 ENST00000355014(uc001fnl.3) ENST00000485575
    ENST00000368285(uc009wrq.3 uc001fnm.3 uc001fnn.3) ENST00000368284
    ENST00000438830 ENST00000368282(uc001fno.3) ENST00000470306 ENST00000487358
    ENST00000466698 ENST00000469065 ENST00000462892 ENST00000484155 ENST00000368286

    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate SEMA4A:
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    SwitchGear 3'UTR luciferase reporter plasmidSEMA4A 3' UTR sequence
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    Additional mRNA sequence: 

    AB029394.1 AK022349.1 AK091127.1 AK290353.1 AK296693.1 AK315547.1 AY358531.1 BC020974.1 
    BX640891.1 

    13 DOTS entries:

    DT.213060  DT.101979818  DT.100754109  DT.95227693  DT.100022714  DT.121420323  DT.86842043  DT.91803467 
    DT.100720190  DT.40229237  DT.91675054  DT.92420163  DT.95132610 

    Selected AceView cDNA sequences (see all 102):

    BM806752 BM666780 AK022416 BI914790 CR623694 BC020974 BQ057192 NM_022367 
    CA393520 AA971074 AY358531 BP346261 BM694992 AU122411 BX640891 AI682007 
    AX746794 BX390196 BX367243 BE868099 BX112994 BX384966 AB029394 BM128651 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEMA4A (see all 21)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e ^
    SP1:                                      -     -     -     -     -     -     -     -     -     -     -                 -     -                                 
    SP2:                                                                                                  -                 -     -                                 
    SP3:                                                                                                                    -     -                                 
    SP4:                                                                                                  -     -     -     -     -                                 
    SP5:                                            -     -     -     -     -     -     -     -     -     -     -     -     -     -                                 

    ExUns: 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a · 21b · 21c
    SP1:              -                 -                                               -                           
    SP2:              -                 -                                               -                           
    SP3:              -                 -                                               -                           
    SP4:        -     -                 -                                               -                           
    SP5:              -                 -                                                                           


    ECgene alternative splicing isoforms for SEMA4A

    (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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    SEMA4A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGGATCTG
    SEMA4A Expression
    About this image


    SEMA4A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Globus Pallidus
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Blood (Cardiovascular System)
             Conventional Dendritic Cells I Spleen
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells I Spleen
    SEMA4A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEMA4A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.408846
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    (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 chordates.

    Orthologs for SEMA4A gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sema4a1 , 5 sema domain, immunoglobulin domain (Ig), transmembrane more1, 5 83.46(n)1
    83.82(a)1
      3 (38.83 cM)5
    203511  NM_013658.31  NP_038686.31 
     884359595 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.104452 Transcribed sequence with weak similarity to protein more 75.75(n)    137710594 
    zebrafish
    (Danio rerio)
    Actinopterygii sema4ab6
    sema4aa6
    sema domain, immunoglobulin domain (Ig), transmemb...
    sema domain, immunoglobulin domain (Ig), transmemb...
    31(a)
    31(a)
    1 ↔ many
    1 ↔ many
    19(24839762-24877832) ENSDARG00000062352
    16(45885728-45903216) ENSDARG00000077103


    ENSEMBL Gene Tree for SEMA4A (if available)
    TreeFam Gene Tree for SEMA4A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEMA4A gene
    SEMA3C2  SEMA4F2  SEMA3E2  SEMA4B2  SEMA4C2  SEMA3F2  SEMA4D2  SEMA4G2  
    SEMA3A2  SEMA3G2  SEMA3D2  
    Selected SIMAP similar genes for SEMA4A using alignment to 5 protein entries:     SEM4A_HUMAN (see all proteins) (see all similar genes):
    DKFZp686D04248    SEMA4C    SEMA5B    SEMA6A    DKFZp686A04130    SEMA3F
    SEMA4B    SEMA4D    SEMA4D variant protein    SEMA6C    SEMA5A    SEMA3D
    SEMA6D    SEMA4G    SEMA4F    PLXNC1    SEMA3B    SEMA3A

    Find genes that share paralogs with SEMA4A           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 SEMA4A (see all 622)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs412650171,2,,4
    C,FRetinitis pigmentosa 35 (RP35)4 pathogenic1162647432(+) GGCTCG/AGGGCA 8 /Q /R mis14Minor allele frequency- A:0.04NA EU 5987
    VAR_0283234
    Retinitis pigmentosa 35 (RP35)4--see VAR_0283232 F C mis40--------
    VAR_0283224
    Retinitis pigmentosa 35 (RP35)4--see VAR_0283222 D H mis40--------
    rs715919301,2
    C--156126537(+) TTTTTTT/-GAGAT 4 -- int11Minor allele frequency- -:0.50NA 2
    rs1917954741,2
    --156131050(+) GGGACA/TCGCCG 4 -- int10--------
    rs2010040391,2
    --156131095(+) GGGTC-/GG    
       GGCGG
    GGGGC
    4 -- int10--------
    rs344089181,2
    C--156133540(+) AAAAAA/-TCAGA 4 -- int11Minor allele frequency- -:0.00NA 2
    rs344368521,2
    C--156133839(+) AAAAAA/-TCACA 4 -- int11Minor allele frequency- -:0.00NA 2
    rs722075121,2
    C--156137703(+) GTTTT-/TTTG  
            
    TTTGT
    4 -- int10--------
    rs730067441,2
    C,F--156140185(+) CCAGGC/TGGAGG 4 -- int12Minor allele frequency- T:0.09WA 120

    HapMap Linkage Disequilibrium report for SEMA4A (156117157 - 156147543 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SEMA4A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509513CNV Insertion20534489

    Human Gene Mutation Database (HGMD): SEMA4A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEMA4A
    DNA2.0 Custom Variant and Variant Library Synthesis for SEMA4A

    (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: 607292   
    OMIM disorders: 610282  610283  
    UniProtKB/Swiss-Prot: SEM4A_HUMAN, Q9H3S1
  • Retinitis pigmentosa 35 (RP35) [MIM:610282]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Cone-rod dystrophy 10 (CORD10) [MIM:610283]: An inherited retinal dystrophy characterized by retinal
    pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone
    photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central
    visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis
    pigmentosa. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for SEMA4A:    
    About MalaCards
    cone-rod dystrophy 10    sema4a-related retinitis pigmentosa    retinitis pigmentosa 35    cone-rod dystrophy
    cone-rod dystrophy 2    leber congenital amaurosis


    Find genes that share disorders with SEMA4A           About GenesLikeMe

    Genetic Association Database (GAD): SEMA4A
    Human Genome Epidemiology (HuGE) Navigator: SEMA4A (2 documents)

    Export disorders for SEMA4A 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 SEMA4A gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with SEMA4A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. (PubMed id 16199541)1, 2, 9 Abid A.... Khaliq S. (J. Med. Genet. 2006)
    2. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    6. Murine semaphorin D/collapsin is a member of a diverse gene family and creates domains inhibitory for axonal extension. (PubMed id 7748561)1, 3 PA1schel A.W....Betz H. (Neuron 1995)
    7. Immune semaphorins: a new area of semaphorin research. (PubMed id 12893810)1, 9 Kumanogoh A. and Kikutani H. (J. Cell. Sci. 2003)
    8. A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration. (PubMed id 23360997)1 Nojima S....Kumanogoh A. (Nat Commun 2013)
    9. An inhibitory role for Sema4A in antigen-specific allergic asthma. (PubMed id 23007237)1 Morihana T....Kikutani H. (J. Clin. Immunol. 2013)
    10. Elevation of Sema4A implicates Th cell skewing and the efficacy of IFN-I^ therapy in multiple sclerosis. (PubMed id 22491253)1 Nakatsuji Y....Kumanogoh A. (J. Immunol. 2012)

    (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: 64218 HGNC: 10729 AceView: SEMA4A Ensembl:ENSG00000196189 euGenes: HUgn64218
    ECgene: SEMA4A Kegg: 64218 H-InvDB: SEMA4A

    (According to HUGE)
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      --

    (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 SEMA4A 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 SEMA4A gene:
    Search GeneIP for patents involving SEMA4A

    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, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, 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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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