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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SEPT2 Gene

protein-coding   GIFtS: 59
GCID: GC02P242254

Septin 2

(Previous names: neural precursor cell expressed, developmentally down-regulated...)
(Previous symbols: DIFF6, NEDD5)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
Septin 21 2     NEDD-52 3
DIFF61 2 3 5     Pnutl32
NEDD51 2 3 5     hNedd52
Neural Precursor Cell Expressed, Developmentally Down-Regulated 51 2     septin-22
Neural Precursor Cell Expressed Developmentally Down-Regulated Protein 52 3     KIAA01583

External Ids:    HGNC: 77291   Entrez Gene: 47352   Ensembl: ENSG000001683857   OMIM: 6015065   UniProtKB: Q150193   

Export aliases for SEPT2 gene to outside databases

Previous GC identifers: GC02P241975 GC02P234010


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

GeneCards Summary for SEPT2 Gene: 
SEPT2 (septin 2) is a protein-coding gene. Diseases associated with SEPT2 include myelodysplastic syndromes, and acute myeloid leukemia, and among its related super-pathways are RAC1 signaling pathway. GO annotations related to this gene include enzyme regulator activity and GTP binding. An important paralog of this gene is SEPT3.

UniProtKB/Swiss-Prot: SEPT2_HUMAN, Q15019
Function: Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Plays
a role in the biogenesis of polarized columnar-shaped epithelium by maintaining polyglutamylated microtubules,
thus facilitating efficient vesicle transport, and by impeding MAP4 binding to tubulin. Required for the
progression through mitosis. Forms a scaffold at the midplane of the mitotic splindle required to maintain CENPE
localization at kinetochores and consequently chromosome congression. During anaphase, may be required for
chromosome segregation and spindle elongation. Plays a role in ciliogenesis and collective cell movements. In
cilia, required for the integrity of the diffusion barrier at the base of the primary cilium that prevents
diffusion of transmembrane proteins between the cilia and plasma membranes: probably acts by regulating the
assembly of the tectonic-like complex (also named B9 complex) by localizing TMEM231 protein. May play a role in
the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri

Gene Wiki entry for SEPT2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005416.13  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEPT2 gene promoter:
         Nkx3-1 v2   Nkx3-1   Max1   Nkx3-1 v4   Nkx3-1 v3   Nkx3-1 v1   Cdc5   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SEPT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEPT2


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

Entrez Gene cytogenetic band: 2q37   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

SEPT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPT2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P242254:  view genomic region     (about GC identifiers)

Start:
242,254,515 bp from pter      End:
242,293,442 bp from pter
Size:
38,928 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SEPT2_HUMAN, Q15019 (See protein sequence)
Recommended Name: Septin-2  
Size: 361 amino acids; 41487 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. Interaction between SEPT2 and SEPT7 seems indirect. Interacts with SEPT5
(By similarity). Interaction with SEPT4 not detected (By similarity). Interacts with SEPT9. Interacts with MAP4
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Chromosome,
centromere, kinetochore. Cleavage furrow. Midbody. Cytoplasm, cell cortex. Cell projection, cilium membrane (By
similarity). 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. During bacterial infection, displays a collar
shape structure next to actin at the pole of invading bacteria. In epithelial cells, colocalizes with
polyglutamylated tubulin around the trans-Golgi network, as well as juxatnuclear and proximal Golgi apparatus.
Localizes at the base of the cilia near the morphological distinction between the cilia and plasma membranes
Miscellaneous: Coordinated expression with SEPT6 and SEPT7
Sequence caution: Sequence=AAY14718.1; Type=Erroneous gene model prediction; Sequence=BAA09928.2; Type=Erroneous
initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for SEPT2:
2QA5 (3D)        2QAG (3D)        2QNR (3D)    
Secondary accessions: B4DGE8 Q14132 Q53QU3 Q8IUK9 Q96CB0
Alternative splicing: 2 isoforms:  Q15019-1   Q15019-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEPT2: NX_Q15019

Explore proteomics data for SEPT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15019

  • SEPT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SEPT2 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001008491.1  NP_001008492.1  NP_001269901.1  NP_001269902.1  NP_004395.1  NP_006146.1  

    ENSEMBL proteins: 
     ENSP00000375834   ENSP00000397195   ENSP00000353157   ENSP00000389174   ENSP00000404484  
     ENSP00000386001   ENSP00000375832   ENSP00000385109   ENSP00000384525   ENSP00000397290  
     ENSP00000406181   ENSP00000394666   ENSP00000399767   ENSP00000385172   ENSP00000413031  
     ENSP00000403287   ENSP00000399195   ENSP00000412434   ENSP00000404417   ENSP00000409596  
     ENSP00000391717   ENSP00000408902   ENSP00000408296   ENSP00000402256  

    Human Recombinant Protein Products for SEPT2: 
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    Novus Biologicals SEPT2 Proteins
    Novus Biologicals SEPT2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for SEPT2
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/17 cellular component terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000145exocyst IEA--
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--

    SEPT2 for ontologies           About GeneDecksing



    SEPT2 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for SEPT2 

    Assay Products for SEPT2: 
    Browse Kits and Assays available from EMD Millipore
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    Browse CLIAs at Cloud-Clone Corp.


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

    4 InterPro protein domains:
     IPR000038 Cell_div_GTP-bd
     IPR027417 P-loop_NTPase
     IPR008113 Septin2
     IPR016491 Septin

    Graphical View of Domain Structure for InterPro Entry Q15019

    ProtoNet protein and cluster: Q15019

    2 Blocks protein domains:
    IPB000038 Cell division/GTP binding protein
    IPB008113 Septin 2 signature


    UniProtKB/Swiss-Prot: SEPT2_HUMAN, Q15019
    Similarity: Belongs to the septin family


    SEPT2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SEPT2_HUMAN, Q15019
    Function: Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Plays
    a role in the biogenesis of polarized columnar-shaped epithelium by maintaining polyglutamylated microtubules,
    thus facilitating efficient vesicle transport, and by impeding MAP4 binding to tubulin. Required for the
    progression through mitosis. Forms a scaffold at the midplane of the mitotic splindle required to maintain CENPE
    localization at kinetochores and consequently chromosome congression. During anaphase, may be required for
    chromosome segregation and spindle elongation. Plays a role in ciliogenesis and collective cell movements. In
    cilia, required for the integrity of the diffusion barrier at the base of the primary cilium that prevents
    diffusion of transmembrane proteins between the cilia and plasma membranes: probably acts by regulating the
    assembly of the tectonic-like complex (also named B9 complex) by localizing TMEM231 protein. May play a role in
    the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10321247
    GO:0005525GTP binding IEA--
    GO:0030234enzyme regulator activity IEA--
    GO:0032947protein complex scaffold IEA--
         
    SEPT2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SEPT2:
     Decreased BPV1 E2 protein expr  Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SEPT2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SEPT2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEPT2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEPT2 

    miRNA
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    miRTarBase miRNAs that target SEPT2:
    hsa-mir-373 (MIRT004515)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPT2
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate SEPT2 (see all 42):
    hsa-miR-140-5p hsa-miR-520f hsa-miR-607 hsa-miR-4307 hsa-miR-106a hsa-miR-15a hsa-miR-503 hsa-miR-485-3p
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SEPT2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1CDC42 signaling events
    CDC42 signaling events0.34
    2Bacterial invasion of epithelial cells
    Bacterial invasion of epithelial cells

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SEPT2
        CDC42 signaling events


    1         Kegg Pathway  (Kegg details for SEPT2):
        Bacterial invasion of epithelial cells


    SEPT2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SEPT2

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

    5/60 Interacting proteins for SEPT2 (Q150191, 2, 3 ENSP000003531574) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SEPT6Q141411, 3, ENSP000003415244EBI-741220,EBI-745901 I2D: score=6 STRING: ENSP00000341524
    PIK3R1P279862, 3, ENSP000002743354MINT-3378272 I2D: score=2 STRING: ENSP00000274335
    STMN1P169492, 3, ENSP000004104524MINT-8270132 I2D: score=2 STRING: ENSP00000410452
    CRAMP1LQ96RY52, 3, ENSP000002939254MINT-8270121 I2D: score=1 STRING: ENSP00000293925
    COG4Q9H9E32, 3, ENSP000003157754MINT-8270099 I2D: score=2 STRING: ENSP00000315775
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002036regulation of L-glutamate transport IEA--
    GO:0007049cell cycle ----
    GO:0007067mitosis IEA--
    GO:0007224smoothened signaling pathway ISS--
    GO:0007264small GTPase mediated signal transduction ----

    SEPT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SEPT2

    Search CenterWatch for drugs/clinical trials and news about SEPT2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SEPT2 gene (6 alternative transcripts): 
    NM_001008491.2  NM_001008492.2  NM_001282972.1  NM_001282973.1  NM_004404.4  NM_006155.2  

    Unigene Cluster for SEPT2:

    Septin 2
    Hs.721234  [show with all ESTs]
    Unigene Representative Sequence: NM_001008491
    18/44 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 44):
    ENST00000391973 ENST00000492978 ENST00000428282 ENST00000360051(uc002wbc.3 uc002wbd.3)
    ENST00000428524 ENST00000445030 ENST00000407017 ENST00000469434 ENST00000495463
    ENST00000391971(uc002wbg.3 uc002wbh.3 uc010zop.2) ENST00000482304
    ENST00000475474 ENST00000469175 ENST00000401990 ENST00000407971 ENST00000461048(uc002wbe.1)
    ENST00000457335 ENST00000436795
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate SEPT2 (see all 42):
    hsa-miR-140-5p hsa-miR-520f hsa-miR-607 hsa-miR-4307 hsa-miR-106a hsa-miR-15a hsa-miR-503 hsa-miR-485-3p
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    Additional mRNA sequence: 

    AF038404.1 AK025163.1 AK294563.1 BC014455.1 BC033559.1 BC040676.1 BC043180.1 BX648000.1 
    D28540.1 D63878.1 

    24/83 DOTS entries (see all 83):

    DT.100033375  DT.91773953  DT.100684920  DT.91915294  DT.91959159  DT.100684911  DT.87012262  DT.91773966 
    DT.91773947  DT.100684906  DT.120964381  DT.92413358  DT.100684922  DT.100684905  DT.100684915  DT.87017681 
    DT.75172050  DT.120964489  DT.100684916  DT.100847908  DT.91773961  DT.95272772  DT.100684914  DT.91727308 

    24/1255 AceView cDNA sequences (see all 1255):

    AA084674 BU622071 BG696690 BQ014667 BU631796 AA908910 BF940050 CD364826 
    AA337394 BU735753 CR626414 BQ576040 AW029040 AA575945 CA424241 AW273787 
    BP344680 AU131176 AA889444 AW167451 AW337224 BM453727 AI094967 BQ670821 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SEPT2 (see all 11)    About this scheme

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

    ExUns: 13b ^ 14 ^ 15 ^ 16a · 16b
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for SEPT2

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SEPT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGAGTCCAT
    SEPT2 Expression
    About this image


    See SEPT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEPT2

    SOURCE GeneReport for Unigene cluster: Hs.721234

    UniProtKB/Swiss-Prot: SEPT2_HUMAN, Q15019
    Tissue specificity: Widely expressed. Up-regulated in liver cancer

        SABiosciences Custom PCR Arrays for SEPT2
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SEPT2 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sept21 , 5 septin 21, 5 90.03(n)1
    98.61(a)1
      1 (47.24 cM)5
    180001  NM_010891.21  NP_035021.11 
     934789645 
    chicken
    (Gallus gallus)
    Aves SEPT21 septin 2 81.63(n)
    95.29(a)
      424843  XM_422654.3  XP_422654.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEPT26
    Uncharacterized protein
    93(a)
    1 ↔ 1
    3(30289791-30298714)
    African clawed frog
    (Xenopus laevis)
    Amphibia XlSeptA2 septin A 77.56(n)    AF212298.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb52g012 Danio rerio cDNA clone IMAGE2640115, partial cds 82.48(n)    BC055230.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sep11 Septin-1 66.37(n)
    76.63(a)
      33114  NM_078706.3  NP_523430.1 


    ENSEMBL Gene Tree for SEPT2 (if available)
    TreeFam Gene Tree for SEPT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SEPT2 gene
    SEPT32  SEPT92  SEPT142  SEPT42  SEPT12  SEPT122  SEPT72  ENSG000002704662  
    SEPT62  SEPT112  SEPT102  SEPT82  SEPT52  
    18/87 SIMAP similar genes for SEPT2 using alignment to 19 protein entries:     SEPT2_HUMAN (see all proteins) (see all similar genes):
    SEPT4    SEPT1    SEPT5    SEPT7    COL24A1    Nbla02942
    DKFZp686F17268    BTBD2    ERBB2    SEPT9    USP10    SEPT3
    CFLAR    FAM3A    HKR1    ZNF212    ZNF547    ZNF585B

    SEPT2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SEPT2
    PGOHUM00000244828 PGOHUM00000250865


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/836 SNPs in SEPT2 are shown (see all 836)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2010687711,2
    --242257163(+) ATGGA-/CCTTCC 4 -- int10--------
    rs1476415191,2
    --242257167(+) ACCTT-/CCGGG 
            
    TTCTA
    4 -- int10--------
    rs2017546391,2
    --242257167(+) ACCTT-/CCGG  
            
    GTTCT
    4 -- int10--------
    rs102008901,2
    C,F,H--242257358(+) TTTTGA/GTCCAA 4 -- int129Minor allele frequency- G:0.23NS EA NA WA CSA 2642
    rs1919835481,2
    --242257363(+) GTCCAA/GTTTGC 4 -- int10--------
    rs1163135191,2
    --242257426(+) GGCTTC/TCTCAC 4 -- int10--------
    rs1840058951,2
    --242257471(+) CTTTCA/CCCTTC 4 -- int10--------
    rs134126491,2
    H--242257528(+) AAGTTA/TTGTTT 4 -- int14Minor allele frequency- T:0.00NS EA 416
    rs571171941,2
    C--242257552(+) AAAAA-/AGATGG 4 -- int10--------
    rs800861611,2
    --242257552(+) ACAGGG/AAAAAA 4 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for SEPT2 (242254515 - 242293442 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SEPT2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2721994CNV Deletion23290073
    esv2307098CNV Deletion18987734
    esv2445970CNV Deletion19546169
    esv2721993CNV Deletion23290073
    esv3816CNV Deletion18987735
    nsv876225CNV Gain21882294

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    (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.)
    About This Section
    OMIM gene information: 601506    OMIM disorders: --

    11 diseases for SEPT2:    About MalaCards
    myelodysplastic syndromes    acute myeloid leukemia    parkinson's disease    systemic lupus erythematosus
    lupus erythematosus    myeloid leukemia    alzheimer's disease    endotheliitis
    lung cancer    leukemia    neuronitis


    SEPT2 for disorders           About GeneDecksing


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

    1 Novoseek inferred disease relationship for SEPT2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 23.1 1 19445675 (1)

    Genetic Association Database (GAD): SEPT2
    Human Genome Epidemiology (HuGE) Navigator: SEPT2 (4 documents)

    Export disorders for SEPT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SEPT2 gene, integrated from 9 sources (see all 90):
    (articles sorted by number of sources associating them with SEPT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and mapping of a human gene (DIFF6) homologous to yeast CDC3, CDC10, CDC11, and CDC12, and mouse Diff6. (PubMed id 8697812)1, 2, 3 Mori T.... Nakamura Y. (1996)
    2. The phosphorylation of SEPT2 on Ser218 by casein kinase 2 is important to hepatoma carcinoma cell proliferation. (PubMed id 19165576)1, 2, 9 Yu W.... Yu L. (2009)
    3. Septin 2 phosphorylation: theoretical and mass spectrometric evidence for the existence of a single phosphorylation site in vivo. (PubMed id 15150837)1, 2, 9 She Y.M.... Trimble W.S. (2004)
    4. Structural analysis of septin 2, 6, and 7 complexes. (PubMed id 16914550)1, 2, 9 Low C. and Macara I.G. (2006)
    5. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    6. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)
    7. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)1, 4 Hosgood H.D....Lan Q. (2008)
    8. Epithelial polarity requires septin coupling of vesicle transport to polyglutamylated microtubules. (PubMed id 18209106)1, 2 Spiliotis E.T.... Nelson W.J. (2008)
    9. Structural insight into filament formation by mammalian septins. (PubMed id 17637674)1, 2 Sirajuddin M.... Wittinghofer A. (2007)
    10. 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. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4735 HGNC: 7729 AceView: NEDD5 Ensembl:ENSG00000168385 euGenes: HUgn4735
    ECgene: SEPT2 Kegg: 4735 H-InvDB: SEPT2

    (According to HUGE)
    About This Section
    HUGE: KIAA0158

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SEPT2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SEPT2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SEPT2 gene:
    Search GeneIP for patents involving SEPT2

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



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    About This Section

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