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SEPT6 Gene

protein-coding   GIFtS: 56
GCID: GC0XM118750

Septin 6

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(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 61 2
SEP22 3 5
KIAA01283 5
SEPT22
Septin 22
septin-62

External Ids:    HGNC: 158481   Entrez Gene: 231572   Ensembl: ENSG000001253547   OMIM: 3006835   UniProtKB: Q141413   

Export aliases for SEPT6 gene to outside databases

Previous GC identifers: GC0XM113567 GC0XM115735 GC0XM116725 GC0XM117503 GC0XM118531 GC0XM118633 GC0XM108243


(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 SEPT6 Gene:
This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One
version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11
and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins.
This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has
been identified, but its biological validity has not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for SEPT6 Gene:
SEPT6 (septin 6) is a protein-coding gene. Diseases associated with SEPT6 include myeloid leukemia, and acute myeloid leukemia. GO annotations related to this gene include GTP binding. An important paralog of this gene is SEPT3.

UniProtKB/Swiss-Prot: SEPT6_HUMAN, Q14141
Function: Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton.
Involved in cytokinesis. May play a role in HCV RNA replication

Gene Wiki entry for SEPT6 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:
NC_000023.11  NT_011786.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SEPT6 gene promoter:
         HSF1short   HSF1 (long)   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SEPT6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEPT6


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

Entrez Gene cytogenetic band: Xq24   Ensembl cytogenetic band:  Xq24   HGNC cytogenetic band: Xq24

SEPT6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPT6 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM118750:  view genomic region     (about GC identifiers)

Start:
118,749,687 bp from pter      End:
118,827,333 bp from pter
Size:
77,647 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SEPT6_HUMAN, Q14141 (See protein sequence)
Recommended Name: Septin-6  
Size: 434 amino acids; 49717 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.
Filaments are assembled from asymmetrical heterotrimers, composed of SEPT2, SEPT6 and SEPT7 that associate
head-to-head to form a hexameric unit. Within the trimer, directly interacts with SEPT2 and SEPT7. Also interacts
with SEPT9 and SEPT12. Interaction with SEPT12 alters filament structure. Interacts with SOCS7. Interacts with
HCV NS5B and with HNRNPA1
Miscellaneous: Coordinated expression with SEPT2 and SEPT7
1 PDB 3D structure from and Proteopedia for SEPT6:
2QAG (3D)    
Secondary accessions: Q5JTK0 Q969W5 Q96A13 Q96GR1 Q96P86 Q96P87
Alternative splicing: 4 isoforms:  Q14141-1   Q14141-2   Q14141-3   Q14141-4   

Explore the universe of human proteins at neXtProt for SEPT6: NX_Q14141

Explore proteomics data for SEPT6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys35, Lys66, Lys176, Lys191, Lys273, Lys327, Lys400, Lys420
  • Modification sites at PhosphoSitePlus

  • See SEPT6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_055944.2  NP_665798.1  NP_665799.1  NP_665801.1  

    ENSEMBL proteins: 
     ENSP00000353278   ENSP00000346169   ENSP00000435818   ENSP00000418715   ENSP00000346397  
     ENSP00000341524   ENSP00000378108   ENSP00000378115   ENSP00000378114  

    SEPT6 Human Recombinant Protein Products:

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    Novus Biologicals SEPT6 Proteins
    Novus Biologicals SEPT6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for SEPT6
    Browse Proteins at Cloud-Clone Corp.

    SEPT6 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SEPT6
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    Search for Antibodies for SEPT6 at Abcam
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    ThermoFisher Antibodies for SEPT6
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    SEPT6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SEPT6
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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

    3 InterPro protein domains:
     IPR016491 Septin
     IPR000038 Cell_div_GTP-bd
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q14141

    ProtoNet protein and cluster: Q14141

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

    UniProtKB/Swiss-Prot: SEPT6_HUMAN, Q14141
    Similarity: Belongs to the septin family


    SEPT6 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SEPT6_HUMAN, Q14141
    Function: Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton.
    Involved in cytokinesis. May play a role in HCV RNA replication

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
    GO:0005525GTP binding TAS11809673
         
    SEPT6 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SEPT6:
     Decreased nuclei size in G2M  Synthetic lethal with imatinib 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Sept6):
     normal 

    SEPT6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sept6tm1Nosa for SEPT6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEPT6
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEPT6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEPT6

    miRNA
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    miRTarBase miRNAs that target SEPT6:
    hsa-mir-1 (MIRT023626)

    Block miRNA regulation of human, mouse, rat SEPT6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEPT6 (see all 29):
    hsa-miR-4317 hsa-miR-875-3p hsa-miR-139-5p hsa-miR-512-3p hsa-miR-3921 hsa-miR-570 hsa-miR-1262 hsa-miR-4267
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SEPT6

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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEPT6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPT6

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT6


    (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
    SEPT6_HUMAN, Q14141: Cytoplasm. Cytoplasm, cytoskeleton, spindle. Chromosome, centromere, kinetochore. Cleavage
    furrow. Midbody. Note=In metaphase cells, localized within the microtubule spindle. At the metaphase plate, in
    close apposition to the kinetochores of the congressed chromosomes. In cells undergoing cytokinesis, localized to
    the midbody, the ingressing cleavage furrow, and the central spindle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0005737cytoplasm ----
    GO:0005819spindle IEA--
    GO:0008021synaptic vesicle IEA--
    GO:0030496midbody IEA--

    SEPT6 for ontologies           About GeneDecksing


    (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 SEPT6 About    
    See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for SEPT6):
        Bacterial invasion of epithelial cells


    SEPT6 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEPT6
    Interactions:

        GeneGlobe Interaction Network for SEPT6

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

    Selected Interacting proteins for SEPT6 (Q141411, 2, 3 ENSP000003415244) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SEPT2Q150191, 3, ENSP000003531574EBI-745901,EBI-741220 I2D: score=6 STRING: ENSP00000353157
    TK1P041832, 3MINT-8274082 I2D: score=2 
    SEPT12Q8IYM11, 3, ENSP000002682314EBI-745901,EBI-2585067 I2D: score=1 STRING: ENSP00000268231
    SEPT9Q9UHD83, ENSP000003912494I2D: score=4 STRING: ENSP00000391249
    S100A4P264473, ENSP000003462944I2D: score=2 STRING: ENSP00000346294
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis TAS11809673
    GO:0007049cell cycle ----
    GO:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----

    SEPT6 for ontologies           About GeneDecksing



    (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 SEPT6



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SEPT6 gene (4 alternative transcripts): 
    NM_015129.5  NM_145799.3  NM_145800.3  NM_145802.3  

    Unigene Cluster for SEPT6:

    Septin 6
    Hs.496666  [show with all ESTs]
    Unigene Representative Sequence: NM_145799
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360156(uc010nqk.3 uc004ers.3 uc004ert.3) ENST00000354228
    ENST00000460411 ENST00000489216(uc004erw.3) ENST00000354416(uc004erv.3)
    ENST00000343984 ENST00000467310 ENST00000481072 ENST00000394610(uc004eru.3)
    ENST00000394617(uc011mtw.1) ENST00000394616(uc011mtv.1)

    miRNA
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    Block miRNA regulation of human, mouse, rat SEPT6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SEPT6 (see all 29):
    hsa-miR-4317 hsa-miR-875-3p hsa-miR-139-5p hsa-miR-512-3p hsa-miR-3921 hsa-miR-570 hsa-miR-1262 hsa-miR-4267
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SEPT6
    Clone
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    OriGene clones in human, mouse for SEPT6 (see all 23)
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    Primer
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    OriGene qPCR primer pairs and template standards for SEPT6
    OriGene qSTAR qPCR primer pairs in human, mouse for SEPT6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEPT6
      QuantiTect SYBR Green Assays in human, mouse, rat SEPT6
      QuantiFast Probe-based Assays in human, mouse, rat SEPT6

    Additional mRNA sequence: 

    AF397023.1 AF403058.1 AF403059.1 AF403060.1 AF403062.1 AK026589.1 AK091435.1 AK290977.1 
    AK298487.1 AK299273.1 AK303116.1 AK303224.1 AL833677.1 AY005981.1 AY034177.1 AY679521.1 
    BC009291.2 BC011922.2 BC036240.1 BC069231.1 D50918.1 

    22 DOTS entries:

    DT.100657555  DT.97759960  DT.95326206  DT.100657548  DT.100657544  DT.40118258  DT.452958  DT.121295476 
    DT.95350254  DT.100039581  DT.100657546  DT.99936998  DT.100657551  DT.95350302  DT.97759963  DT.100865358 
    DT.121295479  DT.95316375  DT.95350297  DT.100865918  DT.92444932  DT.100657552 

    Selected AceView cDNA sequences (see all 407):

    AW167245 BQ774121 BM664002 AI669560 BM991588 AF403058 BC009291 BQ015125 
    BU740625 BM920660 AA315788 AW139109 AW193066 BM725776 BQ888439 AF403060 
    AK026589 BC011922 BF435180 BU932040 CA503228 AI026105 BM721599 BM561801 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEPT6 (see all 17)    About this scheme

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

    ExUns: 16a · 16b ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21
    SP1:        -     -           -                                       
    SP2:        -     -           -     -     -     -     -               
    SP3:        -     -     -     -     -     -                           
    SP4:        -     -     -     -     -     -     -     -               
    SP5:        -     -     -     -     -     -     -     -     -         


    ECgene alternative splicing isoforms for SEPT6

    (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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    SEPT6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAATTTTCA
    SEPT6 Expression
    About this image


    SEPT6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             Ventral/hypothalamic-like neurons
     
     Neurons
             Ventral/hypothalamic-like neurons
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Thymus (Hematopoietic System)
     
     Adrenal Gland (Endocrine System)
    SEPT6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEPT6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.496666

    UniProtKB/Swiss-Prot: SEPT6_HUMAN, Q14141
    Tissue specificity: Widely expressed

        Custom PCR Arrays for SEPT6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT6

    (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 SEPT6 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sept61 , 5 septin 61, 5 91.17(n)1
    96.08(a)1
      X (21.32 cM)5
    565261  NM_001177324.11  NP_001170795.11 
     369113265 
    chicken
    (Gallus gallus)
    Aves SEPT61 septin 6 80.99(n)
    94.84(a)
      422369  NM_001031125.2  NP_001026296.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEPT66
    septin 6
    92(a)
    1 ↔ 1
    GL344229.1(10270-26414)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.82052 Transcribed sequence with moderate similarity to protein more 78.71(n)    CF224624.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb77a072 Danio rerio septin 6, mRNA (cDNA clone MGC66071 IMAGE6796836), more 80.15(n)    BC056592.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sep21 Septin 2 68.32(n)
    70.54(a)
      42438  NM_079693.4  NP_524417.1 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-611 unc-61 52.48(n)
    52.38(a)
      179976  NM_001047733.2  NP_001041198.1 


    ENSEMBL Gene Tree for SEPT6 (if available)
    TreeFam Gene Tree for SEPT6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEPT6 gene
    SEPT32  SEPT92  SEPT142  SEPT42  SEPT12  SEPT122  SEPT72  ENSG000002704662  
    SEPT112  SEPT22  SEPT102  SEPT82  SEPT52  
    17 SIMAP similar genes for SEPT6 using alignment to 7 protein entries:     SEPT6_HUMAN (see all proteins):
    SEPT11    DKFZp547B243    SEPT10    SEPT8    DKFZp564M1416    SEPT14
    MAFK    SEPT9    SEPT3    SEPT7    DKFZp686F17268    Nbla02942
    SEPT2    SEPT12    SEPT5    SEPT4    SEPT1

    SEPT6 for paralogs           About GeneDecksing



    (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 SEPT6 (see all 1254)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1404540931,2
    --118745442(+) TGAATG/TTTGGG 2 -- ds50010--------
    rs1502945261,2
    C--118745443(+) GAATTC/TTGGGG 2 -- ds50010--------
    rs1931460661,2
    --118745676(+) GCCCAA/GCTGGA 2 -- ds50010--------
    rs1851893991,2
    --118745701(+) GGCGGA/GCACGG 2 -- ds50010--------
    rs3051551,2
    C,F,A,H--118745768(+) TCAAAC/TCACCC 2 -- ds500120Minor allele frequency- N:0.00NS EA NA WA 2166
    rs1885080491,2
    --118745849(+) ATCACA/GCAGCC 2 -- ds50010--------
    rs1931692521,2
    --118745981(+) GGTCAC/GACCTT 2 -- ut310--------
    rs1494778601,2
    C--118746078(+) CAGCAA/GAATGG 2 -- ut310--------
    rs1838770401,2
    --118746136(+) ATTTTC/GATGCA 2 -- ut310--------
    rs1885575851,2
    --118746401(+) TGCATA/GTTCAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for SEPT6 (118749687 - 118827333 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SEPT6: --
    Locus Specific Mutation Databases (LSDB): SEPT6

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEPT6
    DNA2.0 Custom Variant and Variant Library Synthesis for SEPT6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300683    OMIM disorders: --

    15 diseases for SEPT6:    
    About MalaCards
    myeloid leukemia    acute myeloid leukemia    leukemia    down syndrome
    hepatitis c virus    parkinson's disease    hepatitis c    cystic fibrosis
    melanoma    hepatitis    neuroblastoma    cerebritis
    prostate cancer    prostatitis    neuronitis


    SEPT6 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for SEPT6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 28.9 1 18492691 (1)
    tumors 0 1 20136629 (1)


    Export disorders for SEPT6 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 SEPT6 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with SEPT6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 8590280)1, 2, 3 Nagase T.... Nomura N. (DNA Res. 1995)
    2. Structural analysis of septin 2, 6, and 7 complexes. (PubMed id 16914550)1, 2, 9 Low C. and Macara I.G. (J. Biol. Chem. 2006)
    3. SEPT12 interacts with SEPT6 and this interaction alters the filament structure of SEPT6 in Hela cells. (PubMed id 18047794)1, 2 Ding X.... Yu L. (J. Biochem. Mol. Biol. 2007)
    4. Structural insight into filament formation by mammalian septins. (PubMed id 17637674)1, 2 Sirajuddin M.... Wittinghofer A. (Nature 2007)
    5. An RNA-binding protein, hnRNP A1, and a scaffold protein, septin 6, facilitate hepatitis C virus replication. (PubMed id 17229681)1, 2 Kim C.S.... Jang S.K. (J. Virol. 2007)
    6. Septins regulate actin organization and cell-cycle arrest through nuclear accumulation of NCK mediated by SOCS7. (PubMed id 17803907)1, 2 Kremer B.E.... Macara I.G. (Cell 2007)
    7. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    8. 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)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    10. SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24. (PubMed id 11809673)1, 2 Ono R.... Hayashi Y. (Cancer Res. 2002)

    (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: 23157 HGNC: 15848 AceView: SEPT6 Ensembl:ENSG00000125354 euGenes: HUgn23157
    ECgene: SEPT6 Kegg: 23157 H-InvDB: SEPT6

    (According to HUGE)
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    HUGE: KIAA0128

    (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 SEPT6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SEPT6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SEPT6 gene:
    Search GeneIP for patents involving SEPT6

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



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