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SEMA7A Gene

protein-coding   GIFtS: 66
GCID: GC15M074701

Semaphorin 7A, GPI Membrane Anchor (John Milton Hagen Blood...

(Previous names: sema domain, immunoglobulin domain (Ig), and GPI membrane...)
(Previous symbol: SEMAL)
  See SEMA7A-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)
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Aliases
Semaphorin 7A, GPI Membrane Anchor (John Milton Hagen Blood Group)1 2     H-SEMA-K12
SEMAL1 2 3 5     H-Sema-L2
Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor,
(Semaphorin) 7A (JMH Blood Group)1 2
     John Milton Hagen Blood Group H-Sema K12
John-Milton-Hargen Human Blood Group Ag2 3     Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor, 7A2
Sema K12 3     Semaphorin K12
Sema L2 3     Semaphorin L2
CD1082 3     semaphorin-7A2
CDw1082 3     semaphorin-K12
JMH Blood Group Antigen2 3     semaphorin-L2
JMH2 5     Semaphorin-K13
SEMAK12 5     Semaphorin-L3
H-Sema K11     CD108 Antigen3
John Milton Hagen Blood Group1     CDW1085
Sema Domain, Immunoglobulin Domain (Ig), And GPI Membrane Anchor,
(Semaphorin) 7A1
     

External Ids:    HGNC: 107411   Entrez Gene: 84822   Ensembl: ENSG000001386237   OMIM: 6079615   UniProtKB: O753263   

Export aliases for SEMA7A gene to outside databases

Previous GC identifers: GC15M070720 GC15M067816 GC15M072278 GC15M072418 GC15M072489 GC15M051497


(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 SEMA7A Gene:
The protein encoded by this gene binds to cell surfaces through a glycosylphosphatidylinositol (GPI) linkage. The
encoded glycoprotein is found on activated lymphocytes and erythrocytes. This protein may be involved in
immunomodulatory and neuronal processes. Defects in this gene can result in loss of bone mineral density (BMD).
Three transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq, Mar
2009)

GeneCards Summary for SEMA7A Gene:
SEMA7A (semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)) is a protein-coding gene. Diseases associated with SEMA7A include exotropia. GO annotations related to this gene include integrin binding and receptor activity. An important paralog of this gene is SEMA6D.

UniProtKB/Swiss-Prot: SEM7A_HUMAN, O75326
Function: Plays an important role in integrin-mediated signaling and functions both in regulating cell migration
and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1
and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of proinflammatory cytokines by monocytes
and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses.
Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in
melanocytes

Gene Wiki entry for SEMA7A 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_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEMA7A gene promoter:
         AhR   Bach1   RP58   Nkx5-1   Arnt   E47   AREB6   MRF-2   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEMA7A promoter sequence
   Search Chromatin IP Primers for SEMA7A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEMA7A


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

Entrez Gene cytogenetic band: 15q22.3-q23   Ensembl cytogenetic band:  15q24.1   HGNC cytogenetic band: 15q22.3-q23

SEMA7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEMA7A gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M074701:  view genomic region     (about GC identifiers)

Start:
74,701,630 bp from pter      End:
74,726,808 bp from pter
Size:
25,179 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: SEM7A_HUMAN, O75326 (See protein sequence)
Recommended Name: Semaphorin-7A precursor  
Size: 666 amino acids; 74824 Da
Subunit: Interacts with ITGA1 and ITGB1 (Probable). Interacts with PLXNC1
1 PDB 3D structure from and Proteopedia for SEMA7A:
3NVQ (3D)    
Secondary accessions: B4DDP7 F5H1S0 Q1XE81 Q1XE82 Q1XE83 Q1XE84 Q3MIY5
Alternative splicing: 2 isoforms:  O75326-1   O75326-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEMA7A: NX_O75326

Explore proteomics data for SEMA7A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn105, Asn157, Asn258, Asn330, Asn602
  • Modification sites at PhosphoSitePlus

  • See SEMA7A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001139501.1  NP_001139502.1  NP_003603.1  

    ENSEMBL proteins: 
     ENSP00000261918   ENSP00000438966   ENSP00000454365   ENSP00000441493  
    Reactome Protein details: O75326

    SEMA7A Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for SEMA7A

     
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    SEMA7A Antibody 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:
    CD: CD molecules
    bloodgroup: Blood group antigens
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing
    SEMA: Semaphorins

    Selected InterPro protein domains (see all 8):
     IPR002165 Plexin_repeat
     IPR013783 Ig-like_fold
     IPR027231 Semaphorin
     IPR001627 Semap_dom
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry O75326

    ProtoNet protein and cluster: O75326

    1 Blocks protein domain: IPB003599 Immunoglobulin subtype

    UniProtKB/Swiss-Prot: SEM7A_HUMAN, O75326
    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 SEMA7A           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: SEM7A_HUMAN, O75326
    Function: Plays an important role in integrin-mediated signaling and functions both in regulating cell migration
    and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1
    and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of proinflammatory cytokines by monocytes
    and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses.
    Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in
    melanocytes
    Induction: Up-regulated in UV-irradiated fibroblasts, but not in UV-irradiated keratinocytes

         Genatlas biochemistry entry for SEMA7A:
    semaphorin 7A,74.8kDa,expressed in the placenta,spleen,thymus and gonadal tissues,ligand for the plexin
    C1,putative counterpart of the viral semaphorin VB

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IEA--
    GO:0005178integrin binding IEA--
    GO:0005515protein binding IPI17474147
         
    Find genes that share ontologies with SEMA7A           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for SEMA7A:
     Decreased homologous recombina  Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sema7a):
     cellular  nervous system 

    Find genes that share phenotypes with SEMA7A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Sema7atm1Alk for SEMA7A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEMA7A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SEMA7A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEMA7A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEMA7A

    miRNA
    Products:
        
    miRTarBase miRNAs that target SEMA7A:
    hsa-mir-615-3p (MIRT040303)

    Block miRNA regulation of human, mouse, rat SEMA7A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEMA7A (see all 37):
    hsa-miR-323-3p hsa-miR-4328 hsa-miR-106a hsa-miR-513a-5p hsa-miR-128 hsa-miR-485-3p hsa-miR-519a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidSEMA7A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SEMA7A
    Predesigned siRNA for gene silencing in human, mouse, rat SEMA7A

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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SEMA7A (NM_003612)
    Sino Biological Human cDNA Clone for SEMA7A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEMA7A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEMA7A

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SEMA7A 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEMA7A


    (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
    SEM7A_HUMAN, O75326: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side. Note=Detected in a punctate
    pattern on the cell membrane of basal and supra-basal skin keratinocytes
    Subcellular locations from COMPARTMENTS: 

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0009897external side of plasma membrane ISS--
    GO:0016020membrane ----
    GO:0031225anchored component of membrane IEA--

    Find genes that share ontologies with SEMA7A           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 SEMA7A 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
    3Semaphorin Signaling
    Semaphorin Signaling
    4Axon guidance
    Axon guidance


    Find genes that share SuperPaths with SEMA7A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for SEMA7A
        Semaphorin Signaling


    1 Reactome Pathway for SEMA7A
        Other semaphorin interactions


    1 Kegg Pathway  (Kegg details for SEMA7A):
        Axon guidance

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEMA7A
    Interactions:

        Search GeneGlobe Interaction Network for SEMA7A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for SEMA7A (O753261, 2, 3 ENSP000002619184) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLXNC1O604861, 3, ENSP000002585264EBI-1753538,EBI-2927384 I2D: score=3 STRING: ENSP00000258526
    NCK1P163331, 3, ENSP000002889864EBI-1753538,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006954inflammatory response IEA--
    GO:0006955immune response TAS9721204
    GO:0007229integrin-mediated signaling pathway IDA12879062
    GO:0007275multicellular organismal development ----
    GO:0007411axon guidance TAS--

    Find genes that share ontologies with SEMA7A           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 SEMA7A (SEM7A)

    1 Novoseek inferred chemical compound relationship for SEMA7A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 0 1 8898942 (1)



    Find genes that share compounds with SEMA7A           About GenesLikeMe



    (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 SEMA7A gene (3 alternative transcripts): 
    NM_001146029.1  NM_001146030.1  NM_003612.3  

    Unigene Cluster for SEMA7A:

    Semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)
    Hs.24640  [show with all ESTs]
    Unigene Representative Sequence: NM_003612
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261918(uc002axv.3 uc010ull.2) ENST00000543145 ENST00000569617
    ENST00000567345 ENST00000542748(uc010ulk.2)
    miRNA
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    Block miRNA regulation of human, mouse, rat SEMA7A using miScript Target Protectors
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    hsa-miR-323-3p hsa-miR-4328 hsa-miR-106a hsa-miR-513a-5p hsa-miR-128 hsa-miR-485-3p hsa-miR-519a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidSEMA7A 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat SEMA7A

    Additional mRNA sequence: 

    AF030698.1 AF069493.1 AF071542.1 AK001895.1 AK293280.1 AK312257.1 AM180445.1 AM180446.1 
    AM180447.1 AM180448.1 AM180449.1 AM180450.1 AM180451.1 BC101643.1 BC101647.1 

    5 DOTS entries:

    DT.95157853  DT.110297  DT.75100409  DT.121054322  DT.91702402 

    Selected AceView cDNA sequences (see all 114):

    BE700441 BE700437 BF363196 BE700453 BE700419 BE700424 AI754587 BE700418 
    BE700402 AK001895 BE700434 BE700433 BE700450 BM050767 BE700406 BU627774 
    AF069493 NM_003612 BE700429 BE700463 AU136411 BE700443 BE700401 BE700426 

    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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    SEMA7A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATAACTTA
    SEMA7A Expression
    About this image


    SEMA7A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Ovary (Reproductive System)
             Mature follicles
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Kidney (Urinary System)
             Metanephros
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    SEMA7A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEMA7A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.24640

    UniProtKB/Swiss-Prot: SEM7A_HUMAN, O75326
    Tissue specificity: Detected in skin keratinocytes and on endothelial cells from skin blood vessels (at protein
    level). Expressed in fibroblasts, keratinocytes, melanocytes, placenta, testis, ovary, spleen, brain, spinal
    chord, lung, heart, adrenal gland, lymph nodes, thymus, intestine and kidney

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEMA7A

    (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 SEMA7A gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sema7a1 , 5 sema domain, immunoglobulin domain (Ig), and GPI membrane more1, 5 87.88(n)1
    89.59(a)1
      9 (31.63 cM)5
    203611  NM_011352.21  NP_035482.11 
     579401355 
    chicken
    (Gallus gallus)
    Aves SEMA7A1 semaphorin 7A, GPI membrane anchor (John Milton Hagen more 58.8(n)
    49.5(a)
      415298  NM_001199749.1  NP_001186678.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEMA7A6
    semaphorin 7A, GPI membrane anchor (John Milton Ha...
    29(a)
    1 ↔ 1
    AAWZ02036995(977-20395)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sema7a1 semaphorin 7A, GPI membrane anchor (John Milton Hagen more 46.21(n)
    33.84(a)
      100496273  XM_002937481.2  XP_002937527.2 
    zebrafish
    (Danio rerio)
    Actinopterygii sema7a1 semaphorin 7A 46.29(n)
    38(a)
      324910  NM_001114885.1  NP_001108357.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sema-1b6
    Sema-1a6
    Sema-1a
    16(a)
    15(a)
    1 ↔ many
    1 ↔ many
    2R(13560344-13571000)
    2L(8542147-8671917)
    worm
    (Caenorhabditis elegans)
    Secernentea smp-16
    smp-26
    (see all 3)
    Protein SMP-2 (smp-2) mRNA, complete cds
    (see all 3)
    18(a)
    18(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    I(14807468-14815714) WBGene00004889
    I(3667124-3671700) WBGene00004890


    ENSEMBL Gene Tree for SEMA7A (if available)
    TreeFam Gene Tree for SEMA7A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEMA7A gene
    SEMA6D2  SEMA6B2  SEMA6C2  SEMA5A2  SEMA6A2  SEMA5B2  
    4 SIMAP similar genes for SEMA7A using alignment to 3 protein entries:     SEM7A_HUMAN (see all proteins):
    SEMA3A    SEMA4B    SEMA3C    SEMA3F

    Find genes that share paralogs with SEMA7A           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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    SEM7A_HUMAN, O75326: Genetic variations in SEMA7A define the John Milton Hagen blood group system (JMH) [MIM:614745].
    Three different JMH phenotypes have been identified based on the presence or absence of the high-frequency JMH
    antigen: JMH-weak, JMH-negative, and JMH-variant. The JMH-weak and -negative phenotypes can be either acquired or
    inherited and are characterized by a reduction or complete loss of JMH expression on red blood cells. Individuals
    with the JMH-variant phenotype are usually JMH-positive and have alloantibodies compatible with JMH-negative red
    blood cells. The JMH-variant phenotype results from rare SEMA7A missense variants


    Selected SNPs for SEMA7A (see all 853)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs283629301,2
    C,F--54752145(-) GGTGCC/TGGCTG 3 -- ds500110Minor allele frequency- T:0.20NS NA WA CSA EA 446
    rs1889484561,2
    C--54752192(+) ACAGGA/GTCGCA 3 -- ds50010--------
    rs1816361431,2
    --54752238(+) GGCAGC/GGAGTC 3 -- ds50010--------
    rs283629291,2
    C,F--54752357(-) TCGAGC/ACTTGA 3 -- ds50016Minor allele frequency- A:0.08NS NA WA 202
    rs1498676591,2
    --54752373(+) CAGCAC/TGCTGC 3 -- ds50010--------
    rs1138223121,2
    C--54752680(+) CCCTGG/TGTGGC 3 -- ut310--------
    rs283629281,2
    C--54752718(-) TTTCAG/TGGGGG 3 -- ut313Minor allele frequency- T:0.01NS NA 80
    rs753190521,2
    C--54752819(+) TAACAC/TGTCCT 3 -- ut310--------
    rs1855099081,2
    --54752883(+) TGAGAA/GGAAGG 3 -- ut310--------
    rs283629271,2
    C--54752956(-) GAGCCG/AGGTCC 3 -- ut313Minor allele frequency- A:0.01NS NA 88

    HapMap Linkage Disequilibrium report for SEMA7A (74701630 - 74726808 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SEMA7A (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749879CNV Deletion23290073
    dgv2412n71CNV Loss21882294
    nsv904373CNV Loss21882294
    esv24909CNV Loss19812545
    dgv2413n71CNV Loss21882294
    dgv2409n71CNV Loss21882294
    dgv2411n71CNV Loss21882294
    nsv904371CNV Loss21882294
    dgv2406n71CNV Loss21882294
    dgv2407n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): SEMA7A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEMA7A
    DNA2.0 Custom Variant and Variant Library Synthesis for SEMA7A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607961   
    OMIM disorders: 614745  
    1 disease for SEMA7A:    
    About MalaCards
    exotropia

    1 disease from the University of Copenhagen DISEASES database for SEMA7A:
    Exotropia

    Find genes that share disorders with SEMA7A           About GenesLikeMe

    2 Novoseek inferred disease relationships for SEMA7A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 8.16 1 18987670 (1)
    tumors 0 1 18987670 (1)

    Genetic Association Database (GAD): SEMA7A
    Human Genome Epidemiology (HuGE) Navigator: SEMA7A (1 document)

    Export disorders for SEMA7A 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 SEMA7A gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with SEMA7A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. New eukaryotic semaphorins with close homology to semaphorins of DNA viruses. (PubMed id 9721204)1, 2, 3 Lange C.... Ensser A. (Genomics 1998)
    2. The molecular diversity of Sema7A, the semaphorin that carries the JMH blood group antigens. (PubMed id 17207242)1, 2, 9 Seltsam A.... Blasczyk R. (Transfusion 2007)
    3. Semaphorin 7a promotes spreading and dendricity in human melanocytes through beta1-integrins. (PubMed id 17671519)1, 2, 9 Scott G.A.... Fricke A.F. (J. Invest. Dermatol. 2008)
    4. Association study of semaphorin 7a (sema7a) polymorphisms with bone mineral density and fracture risk in postmenopausal Korean women. (PubMed id 16372136)1, 4, 9 Koh J.M....Kim S.Y. (J. Hum. Genet. 2006)
    5. Molecular cloning of a glycosylphosphatidylinositol-anchored molecule CDw108. (PubMed id 10201933)1, 2, 9 Yamada A.... Itoh K. (J. Immunol. 1999)
    6. Semaphorin 7A initiates T-cell-mediated inflammatory responses through alpha1beta1 integrin. (PubMed id 17377534)1, 2, 9 Suzuki K.... Kikutani H. (Nature 2007)
    7. Semaphorin 7A promotes axon outgrowth through integrins and MAPKs. (PubMed id 12879062)1, 2, 9 Pasterkamp R.J.... Kolodkin A.L. (Nature 2003)
    8. Human semaphorin K1 is glycosylphosphatidylinositol-linked and defines a new subfamily of viral-related semaphorins. (PubMed id 9712866)1, 2, 9 Xu X.... Luo Y. (J. Biol. Chem. 1998)
    9. Characterization of the human leukocyte GPI-anchored glycoprotein CDw108 and its relation to other similar molecules. (PubMed id 10416131)1, 2, 9 Angelisova P.... Horejsi V. (Immunobiology 1999)
    10. A new SEMA7A variant found in Native Americans with alloantibody. (PubMed id 20854351)1, 2 Richard M.... St-Louis M. (Vox Sang. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 8482 HGNC: 10741 AceView: SEMA7A Ensembl:ENSG00000138623 euGenes: HUgn8482
    ECgene: SEMA7A Kegg: 8482 H-InvDB: SEMA7A

    (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 SEMA7A Pharmacogenomics, SNPs, Pathways
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=jmh
    SeattleSNPshttp://pga.gs.washington.edu/data/sema7a/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SEMA7A gene:
    Search GeneIP for patents involving SEMA7A

    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, 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
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