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SEPT9 Gene

protein-coding   GIFtS: 60
GCID: GC17P075277

Septin 9

(Previous name: MLL septin-like fusion)
(Previous symbol: MSF)
  See SEPT9-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
Septin 91 2     MLL Septin-Like Fusion1
MSF1 2 3 5     AF17q252
Ov/Br Septin1 2 3     PNUTL42
Ovarian/Breast Septin2 3     SINT12
Septin D12 3     SeptD12
MLL Septin-Like Fusion Protein MSF-A2 3     septin-92
MSF12 5     KIAA09913
NAPB2 5     MLL Septin-Like Fusion Protein3

External Ids:    HGNC: 73231   Entrez Gene: 108012   Ensembl: ENSG000001846407   OMIM: 6040615   UniProtKB: Q9UHD83   

Export aliases for SEPT9 gene to outside databases

Previous GC identifers: GC17P072790 GC17P070710


(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 SEPT9 Gene:
This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a
candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy,
also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome
17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced
transcript variants encoding different isoforms have been described.(provided by RefSeq, Mar 2009)

GeneCards Summary for SEPT9 Gene:
SEPT9 (septin 9) is a protein-coding gene. Diseases associated with SEPT9 include neuritis, and hereditary neuralgic amyotrophy. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is SEPT3.

UniProtKB/Swiss-Prot: SEPT9_HUMAN, Q9UHD8
Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May
play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella
flexneri

Gene Wiki entry for SEPT9 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_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEPT9 gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   Tal-1beta   E47   Max   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSEPT9 promoter sequence
   Search Chromatin IP Primers for SEPT9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEPT9


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

Entrez Gene cytogenetic band: 17q25   Ensembl cytogenetic band:  17q25.2   HGNC cytogenetic band: 17q25.3

SEPT9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPT9 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P075277:  view genomic region     (about GC identifiers)

Start:
75,276,651 bp from pter      End:
75,496,678 bp from pter
Size:
220,028 bases      Orientation:
plus strand

1 alternative location:
Chr17+,NW_003315955 78,784-79,107     

(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: SEPT9_HUMAN, Q9UHD8 (See protein sequence)
Recommended Name: Septin-9  
Size: 586 amino acids; 65401 Da
Subunit: Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with
cellular membranes, actin filaments, and microtubules. GTPase activity is required for filament formation.
Interacts with SEPT2, SEPT6, SEPT7, SEPT11 and SEPT14. Interacts with RTKN and ARHGEF18. In a mesenchymal cell
line, Rho/RTKN signals cause disruption of wild-type septin filaments, but not of those containing isoform 2
variants HNA Trp-106 and Phe-111. In a mesenchymal cell line, isoform 2 variants HNA Trp-106 and Phe-111, but not
wild type, form filaments with SEPT4
Sequence caution: Sequence=BAB14057.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Secondary accessions: A8K2V3 B3KPM0 B4DTL9 B4E0N2 B4E274 B7Z654 Q96QF3 Q96QF4 Q96QF5 Q9HA04
Q9UG40 Q9Y5W4
Alternative splicing: 8 isoforms:  Q9UHD8-1   Q9UHD8-2   Q9UHD8-3   Q9UHD8-4   Q9UHD8-5   Q9UHD8-7   Q9UHD8-8   Q9UHD8-9   
(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEPT9: NX_Q9UHD8

Explore proteomics data for SEPT9 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys186, Lys262, Lys271, Lys326, Lys343, Lys352, Lys357, Lys381, Lys389, Lys431,
                                 Lys435, Lys445, Lys476, Lys490, Lys511, Lys519, Lys549
  • Modification sites at PhosphoSitePlus

  • See SEPT9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001106963.1  NP_001106964.1  NP_001106965.1  NP_001106966.1  NP_001106967.1  NP_001106968.1  NP_006631.2  

    ENSEMBL proteins: 
     ENSP00000465332   ENSP00000391249   ENSP00000466684   ENSP00000468406   ENSP00000465600  
     ENSP00000406987   ENSP00000465464   ENSP00000468090   ENSP00000465026   ENSP00000468504  
     ENSP00000468668   ENSP00000405877   ENSP00000466164   ENSP00000403194   ENSP00000466997  
     ENSP00000468244   ENSP00000467051   ENSP00000468120   ENSP00000467908   ENSP00000466170  
     ENSP00000464832   ENSP00000467792   ENSP00000438089   ENSP00000465415   ENSP00000466247  
     ENSP00000466201   ENSP00000466648   ENSP00000468110   ENSP00000467780   ENSP00000467619  
     ENSP00000468410   ENSP00000465904   ENSP00000415624   ENSP00000466532   ENSP00000466115  
     ENSP00000329161   ENSP00000400181  

    SEPT9 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins for SEPT9
    OriGene Protein Over-expression Lysate for SEPT9
    OriGene MassSpec for SEPT9
    OriGene Custom Protein Services for SEPT9
    GenScript Custom Purified and Recombinant Proteins Services for SEPT9
    Novus Biologicals SEPT9 Proteins
    Novus Biologicals SEPT9 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SEPT9 

    SEPT9 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals SEPT9 Antibodies
    Search for Antibodies for SEPT9 at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for SEPT9
    Search LSBio for Antibodies for SEPT9

    SEPT9 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SEPT9
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SEPT9 


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

    2 InterPro protein domains:
     IPR000038 Cell_div_GTP-bd
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q9UHD8

    ProtoNet protein and cluster: Q9UHD8

    1 Blocks protein domain: IPB000038 Cell division/GTP binding protein

    UniProtKB/Swiss-Prot: SEPT9_HUMAN, Q9UHD8
    Similarity: Belongs to the septin family


    Find genes that share domains with SEPT9           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: SEPT9_HUMAN, Q9UHD8
    Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May
    play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella
    flexneri

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003677DNA binding ----
    GO:0003924GTPase activity TAS10339604
    GO:0005515protein binding IPI15485874
    GO:0005524ATP binding ----
         
    Find genes that share ontologies with SEPT9           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sept9):
     cellular  hematopoietic system  immune system  mortality/aging  normal 

    Find genes that share phenotypes with SEPT9           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEPT9
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SEPT9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEPT9
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEPT9

    miRNA
    Products:
        
    miRTarBase miRNAs that target SEPT9:
    hsa-mir-186-5p (MIRT045022), hsa-mir-10a-5p (MIRT047535), hsa-mir-124-3p (MIRT022251)

    Block miRNA regulation of human, mouse, rat SEPT9 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEPT9 (see all 28):
    hsa-miR-607 hsa-miR-300 hsa-miR-1271 hsa-miR-650 hsa-miR-421 hsa-miR-124 hsa-miR-205* hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidSEPT9 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SEPT9
    Predesigned siRNA for gene silencing in human, mouse, rat SEPT9

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SEPT9

    Clone
    Products:
         
    OriGene clones in human, mouse for SEPT9 (see all 38)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for SEPT9
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEPT9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPT9

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SEPT9
    Browse ESI BIO Cell Lines and PureStem Progenitors for SEPT9 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT9


    (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
    SEPT9_HUMAN, Q9UHD8: Cytoplasm, cytoskeleton. Note=In an epithelial cell line, concentrates at cell-cell contact
    areas. After TGF-beta1 treatment and induction of epithelial to mesenchymal transition, colocalizes partly with
    actin stress fibers. During bacterial infection, displays a collar shape structure next to actin at the pole of
    invading bacteria
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus3
    cytosol1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IDA15485874
    GO:0005622intracellular ----
    GO:0005737cytoplasm TAS10339604
    GO:0005874microtubule IDA15485874
    GO:0015629actin cytoskeleton IDA--

    Find genes that share ontologies with SEPT9           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 SEPT9 About    
    See pathways by source

    SuperPathContained pathways About
    1Bacterial invasion of epithelial cells
    Bacterial invasion of epithelial cells


    Find genes that share SuperPaths with SEPT9           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SEPT9
        RhoA Pathway
    Rho Family GTPases


    1 Kegg Pathway  (Kegg details for SEPT9):
        Bacterial invasion of epithelial cells

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEPT9
    Interactions:

        Search GeneGlobe Interaction Network for SEPT9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SEPT9 (Q9UHD81, 2, 3 ENSP000003912494) via UniProtKB, MINT, STRING, and/or I2D (see all 862)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIF1AQ166651, 3, ENSP000003380184EBI-851558,EBI-447269 I2D: score=4 STRING: ENSP00000338018
    SRRM2Q9UQ352, 3, ENSP000003017404MINT-7945693 I2D: score=1 STRING: ENSP00000301740
    UBA5Q9GZZ92, 3MINT-7945693 MINT-7947479 I2D: score=1 
    SEPT7Q161812, 3, ENSP000003819924MINT-7945693 I2D: score=5 STRING: ENSP00000381992
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process TAS10339604
    GO:0007049cell cycle IEA--
    GO:0007059chromosome segregation ----
    GO:0007264small GTPase mediated signal transduction ----
    GO:0051291protein heterooligomerization IDA15485874

    Find genes that share ontologies with SEPT9           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 SEPT9

    1 Novoseek inferred chemical compound relationship for SEPT9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 35.2 2 15095474 (2)



    Find genes that share compounds with SEPT9           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 SEPT9 gene (7 alternative transcripts): 
    NM_001113491.1  NM_001113492.1  NM_001113493.1  NM_001113494.1  NM_001113495.1  NM_001113496.1  NM_006640.4  

    Unigene Cluster for SEPT9:

    Septin 9
    Hs.440932  [show with all ESTs]
    Unigene Representative Sequence: NM_006640
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 47):
    ENST00000589070 ENST00000427177(uc002jts.4 uc010wtk.2 uc002jtx.1)
    ENST00000591833 ENST00000591198 ENST00000590576 ENST00000431235(uc002jty.4)
    ENST00000587237 ENST00000590294 ENST00000588575 ENST00000590595 ENST00000591934
    ENST00000588690 ENST00000592098 ENST00000423034(uc002jtv.3) ENST00000590059
    ENST00000587514 ENST00000590586 ENST00000592407
    miRNA
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    Block miRNA regulation of human, mouse, rat SEPT9 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEPT9 (see all 28):
    hsa-miR-607 hsa-miR-300 hsa-miR-1271 hsa-miR-650 hsa-miR-421 hsa-miR-124 hsa-miR-205* hsa-miR-1252
    SwitchGear 3'UTR luciferase reporter plasmidSEPT9 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SEPT9
    Predesigned siRNA for gene silencing in human, mouse, rat SEPT9
    Clone
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    OriGene clones in human, mouse for SEPT9 (see all 38)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for SEPT9
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEPT9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPT9
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SEPT9
    OriGene qSTAR qPCR primer pairs in human, mouse for SEPT9
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEPT9
      QuantiTect SYBR Green Assays in human, mouse, rat SEPT9
      QuantiFast Probe-based Assays in human, mouse, rat SEPT9

    Additional mRNA sequence: 

    AB023208.1 AF142408.1 AF142569.1 AF189712.2 AF189713.3 AJ312319.1 AJ312320.1 AJ312321.1 
    AJ312322.1 AJ312323.1 AK022493.1 AK056495.1 AK290368.1 AK299828.1 AK300270.1 AK303449.1 
    AK304143.1 AK316473.1 AL080131.1 BC018877.1 BC021192.2 BC054004.1 BC064642.1 BC114550.1 
    BC128416.1 BT007215.1 

    Selected DOTS entries (see all 58):

    DT.100666739  DT.449495  DT.95208391  DT.100666731  DT.95131372  DT.100666729  DT.100666735  DT.95110873 
    DT.100666728  DT.100637584  DT.100666741  DT.95208406  DT.100039407  DT.100666736  DT.91775260  DT.120929152 
    DT.99967960  DT.100854583  DT.97860991  DT.120929012  DT.100873689  DT.120929127  DT.95208306  DT.97860988 

    14 AceView cDNA sequences:

    AX748296 AK093770 BE089869 AK097965 BM980800 AW406439 AW007759 AJ706498 
    BP432802 BG163902 BF912064 BF738877 AW236277 BF838764 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEPT9 (see all 37)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
    SP1:                          -     -     -     -     -     -     -                 -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP2:                          -     -     -     -     -     -     -                 -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP3:                                                        -     -                 -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP4:                                                                                                                    -     -     -     -     -     -     -   
    SP5:                                                                                                                                            -     -     -   

    ExUns: 17 ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b ^ 21a · 21b · 21c · 21d · 21e · 21f · 21g ^ 22 ^ 23a · 23b · 23c · 23d ^ 24 ^ 25a · 25b · 25c · 25d ^ 26 ^ 27 ^
    SP1:  -     -                             -                                               -     -     -     -     -     -     -     -     -     -     -     -   
    SP2:  -     -                                                                             -     -     -     -     -     -     -     -     -     -     -     -   
    SP3:  -     -                                                                             -     -     -     -     -     -     -     -     -     -     -     -   
    SP4:  -     -                                                                             -     -     -     -     -     -     -     -     -     -     -     -   
    SP5:  -     -                                                                             -     -     -     -     -     -     -     -     -     -     -     -   

    ExUns: 28 ^ 29 ^ 30a · 30b · 30c ^ 31 ^ 32a · 32b · 32c ^ 33a · 33b ^ 34 ^ 35 ^ 36a · 36b · 36c ^ 37 ^ 38a · 38b ^ 39a · 39b ^ 40a · 40b
    SP1:  -     -                                                                                                     -           -               
    SP2:  -     -                                                                                                     -           -               
    SP3:  -     -                                                                                                     -           -               
    SP4:  -     -                                                                                                     -           -               
    SP5:  -     -                                                                                                     -           -               


    ECgene alternative splicing isoforms for SEPT9

    (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)
    About This Section

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    SEPT9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCCTGCCC
    SEPT9 Expression
    About this image

    SEPT9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEPT9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.440932

    UniProtKB/Swiss-Prot: SEPT9_HUMAN, Q9UHD8
    Tissue specificity: Widely expressed. Isoforms are differentially expressed in testes, kidney, liver heart,
    spleen, brain, peripheral blood leukocytes, skeletal muscle and kidney. Specific isoforms appear to demonstrate
    tissue specificity. Isoform 5 is the most highly expressed in fetal tissue. Isoform 1 is detected in all tissues
    except the brain and thymus, while isoform 2, isoform 3, and isoform 4 are detected at low levels in
    approximately half of the fetal tissues

        Custom PCR Arrays for SEPT9
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT9

    (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 and fungi.

    Orthologs for SEPT9 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sept91 , 5 septin 91, 5 86.6(n)1
    90.72(a)1
      11 (82.61 cM)5
    538601  NM_001113486.11  NP_001106958.11 
     1171996615 
    chicken
    (Gallus gallus)
    Aves SEPT91 septin 9 76.96(n)
    80.61(a)
      417347  NM_001030701.1  NP_001025872.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEPT96
    septin 9
    68(a)
    1 ↔ 1
    2(110100342-110215023)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.83252 Xenopus laevis transcribed sequence with moderate similarity more 79.63(n)    CA983391.1 
    zebrafish
    (Danio rerio)
    Actinopterygii msf2 MLL septin-like fusion 79.17(n)   337243  AY398383.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC101 CDC10 50.93(n)
    47.22(a)
      850358   NP_009928.1 


    ENSEMBL Gene Tree for SEPT9 (if available)
    TreeFam Gene Tree for SEPT9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEPT9 gene
    SEPT32  SEPT142  SEPT42  SEPT12  SEPT122  SEPT72  ENSG000002704662  SEPT62  
    SEPT112  SEPT22  SEPT102  SEPT82  SEPT52  
    15 SIMAP similar genes for SEPT9 using alignment to 25 protein entries:     SEPT9_HUMAN (see all proteins):
    SEPT3    SEPT1    SEPT12    SEPT2    SEPT11    SEPT5
    DKFZp686F17268    SEPT4    Nbla02942    SEPT6    SEPT7    SEPT10
    SEPT8    DKFZp547B243    SEPT14

    Find genes that share paralogs with SEPT9           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 SEPT9 (see all 5229)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0331014
    Hereditary neuralgic amyotrophy (HNA)4--see VAR_0331012 R W mis40--------
    VAR_0331024
    Hereditary neuralgic amyotrophy (HNA)4--see VAR_0331022 S F mis40--------
    rs803387611,2
    Cpathogenic176484530(+) TGTCCC/TGGCGC 8 R W mis1 ut510--------
    rs803387621,2
    Cpathogenic176484546(+) GCTGTC/TCATTG 8 S F mis1 ut510--------
    rs98998141,2
    C,A,H--75277048(+) cggcgC/Gcgccg 1 -- us2k10--------
    rs118680781,2
    H--75277049(+) ggcgcC/Ggccgc 1 -- us2k10--------
    rs74070091,2
    C,A--75277227(+) aggcgG/Tccccc 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs47894301,2
    A--75277430(+) GGGTTC/GTATGC 1 -- us2k10--------
    rs675515391,2
    C--75279604(+) CCAAC-/AAGCCA 1 -- int10--------
    rs2002708071,2
    C--75279604(+) CCAACA/CAGCCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for SEPT9 (75276651 - 75496678 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SEPT9 (see all 39):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2716281CNV Deletion23290073
    esv992724CNV Deletion20482838
    esv2670792CNV Deletion23128226
    esv2716278CNV Deletion23290073
    esv1080795CNV Deletion17803354
    esv2716279CNV Deletion23290073
    esv996321CNV Deletion20482838
    esv1440775CNV Deletion17803354
    esv2378475CNV Deletion18987734
    esv2716280CNV Deletion23290073

    Human Gene Mutation Database (HGMD): SEPT9
    Locus Specific Mutation Databases (LSDB): SEPT9

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEPT9
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    (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: 604061   
    OMIM disorders: 162100  
    UniProtKB/Swiss-Prot: SEPT9_HUMAN, Q9UHD8
  • Note=A chromosomal aberration involving SEPT9/MSF is found in therapy-related acute myeloid leukemia
    (t-AML). Translocation t(11;17)(q23;q25) with KMT2A/MLL1
  • Hereditary neuralgic amyotrophy (HNA) [MIM:162100]: Autosomal dominant form of recurrent focal neuropathy
    characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and
    atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection
    or parturition. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for SEPT9:    
    About MalaCards
    neuritis    hereditary neuralgic amyotrophy    leukemia, acute myeloid, therapy-related    cri-du-chat syndrome
    brachial plexus neuropathy    acute myelomonocytic leukemia    ovarian cancer    hereditary neuropathy with liability to pressure palsies


    Find genes that share disorders with SEPT9           About GenesLikeMe

    4 Novoseek inferred disease relationships for SEPT9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuralgic amyotrophy 93.5 9 19451530 (2), 18492087 (1), 19139049 (1), 20502708 (1) (see all 5)
    ovarian neoplasms 58.2 2 16161048 (1), 14648661 (1)
    leukemia 22 4 10339604 (2), 10485469 (1)
    tumors 21.3 12 12727837 (2), 15095474 (2), 15782116 (1), 19443305 (1) (see all 8)

    GeneTests: SEPT9
    GeneReviews: SEPT9
    Genetic Association Database (GAD): SEPT9
    Human Genome Epidemiology (HuGE) Navigator: SEPT9 (3 documents)

    Export disorders for SEPT9 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 SEPT9 gene, integrated from 10 sources (see all 112):
    (articles sorted by number of sources associating them with SEPT9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25). (PubMed id 10339604)1, 2, 3, 9 Osaka M.... Zeleznik-Le N.J. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    2. SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. (PubMed id 19451530)1, 2, 9 Hannibal M.C.... Chance P.F. (Neurology 2009)
    3. Genomic and expression analyses of alternatively spliced transcripts of the MLL septin-like fusion gene (MSF) that map to a 17q25 region of loss in breast and ovarian tumors. (PubMed id 10673329)1, 2, 9 Kalikin L.M.... Petty E.M. (Genomics 2000)
    4. AF17q25, a putative septin family gene, fuses the MLL gene in acute myeloid leukemia with t(11;17)(q23;q25). (PubMed id 10485469)1, 3, 9 Taki T....Hayashi Y. (Cancer Res. 1999)
    5. Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation -- a family study. (PubMed id 18492087)1, 2, 9 Laccone F....Rehder H. (Clin. Genet. 2008)
    6. Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin. (PubMed id 17922164)1, 2, 9 Peterson E.A....Petty E.M. (Mamm. Genome 2007)
    7. Mutations in SEPT9 cause hereditary neuralgic amyotrophy. (PubMed id 16186812)1, 2, 9 Kuhlenbaeumer G.... Chance P.F. (Nat. Genet. 2005)
    8. Genomic organization, complex splicing pattern and expression of a human septin gene on chromosome 17q25.3. (PubMed id 11593400)1, 2, 9 McIlhatton M.A.... Russell S.E. (Oncogene 2001)
    9. Isolation and mapping of a human septin gene to a region on chromosome 17q, commonly deleted in sporadic epithelial ovarian tumors. (PubMed id 10987277)1, 2, 9 Russell S.E.H....Johnston P.G. (Cancer Res. 2000)
    10. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PubMed id 20966902)1, 4 Croteau-Chonka D.C....Mohlke K.L. (Obesity (Silver Spring) 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: 10801 HGNC: 7323 AceView: MSF.1 Ensembl:ENSG00000184640 euGenes: HUgn10801
    ECgene: SEPT9 Kegg: 10801 H-InvDB: SEPT9

    (According to HUGE)
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    HUGE: KIAA0991

    (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 SEPT9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SEPT9 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SEPT9[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SEPT9 gene:
    Search GeneIP for patents involving SEPT9

    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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