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SEPT5 Gene

protein-coding   GIFtS: 50
GCID: GC22P019701

Septin 5

(Previous name: peanut-like 1 (Drosophila))
(Previous symbol: PNUTL1)
  See SEPT5-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 51 2     Cell Division Control Related Protein 12
PNUTL11 2 3 5     Peanut-Like 12
CDCREL2 5     Platelet Glycoprotein Ib Beta Chain2
Peanut-Like 1 (Drosophila)1     septin-52
CDCREL-12     CDCrel-13
CDCREL12     Cell Division Control-Related Protein 13
H52     Peanut-Like Protein 13
HCDCREL-12     

External Ids:    HGNC: 91641   Entrez Gene: 54132   Ensembl: ENSG000001847027   OMIM: 6027245   UniProtKB: Q997193   

Export aliases for SEPT5 gene to outside databases

Previous GC identifers: GC22P018077 GC22P003322


(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 SEPT5 Gene:
This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as
cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear
to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large
multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and
velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in
patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence
of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the
downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are
produced. (provided by RefSeq, Dec 2010)

GeneCards Summary for SEPT5 Gene:
SEPT5 (septin 5) is a protein-coding gene. Diseases associated with SEPT5 include myeloid leukemia, and acute myeloid leukemia. GO annotations related to this gene include structural molecule activity and GTP binding. An important paralog of this gene is SEPT3.

UniProtKB/Swiss-Prot: SEPT5_HUMAN, Q99719
Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May
play a role in platelet secretion (By similarity)

Gene Wiki entry for SEPT5 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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Regulatory elements:
   Regulatory transcription factor binding sites in the SEPT5 gene promoter:
         c-Fos   AP-1   JunB   Fra-1   FosB   CREB   JunD   HOXA5   deltaCREB   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SEPT5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEPT5


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.2

SEPT5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPT5 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P019701:  view genomic region     (about GC identifiers)

Start:
19,701,987 bp from pter      End:
19,712,295 bp from pter
Size:
10,309 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for SEPT5

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SEPT5_HUMAN, Q99719 (See protein sequence)
Recommended Name: Septin-5  
Size: 369 amino acids; 42777 Da
Subunit: Septins polymerize into heterooligomeric protein complexes that form filaments, and can associate with
cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation (By
similarity). Interacts with SEPT2 and SEPT5. In platelets, associated with a complex containing STX4. Interacts
with PARK2. This interaction leads to SEPT5 ubiquitination and degradation (By similarity)
Miscellaneous: In a heterologous system, SEPT5 overexpression has been shown to exert dopamine-dependent
neurotoxicity. As wild-type PARK2, but not familial-linked PARK2 mutants, ubiquitinates mouse SEPT5 and promotes
its degradation, it has been sugested that a deficiency in SEPT5 degradation may contribute to the development of
early onset Parkinson disease 2 (PARK2)
Secondary accessions: O15251 Q96MY5
Alternative splicing: 2 isoforms:  Q99719-1   Q99719-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEPT5: NX_Q99719

Explore proteomics data for SEPT5 at MOPED

Post-translational modifications: 

  • In platelets, phosphorylated in response to thrombin, phorbol-12-myristate-13-acetate and collagen1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SEPT5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001009939.1  NP_002679.2  

    ENSEMBL proteins: 
     ENSP00000391311   ENSP00000384535   ENSP00000385356   ENSP00000408678   ENSP00000391731  
     ENSP00000414488   ENSP00000372515   ENSP00000394541   ENSP00000399685   ENSP00000378541  
     ENSP00000404673  

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    antibodies-online peptides for SEPT5

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    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 Q99719

    ProtoNet protein and cluster: Q99719

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

    UniProtKB/Swiss-Prot: SEPT5_HUMAN, Q99719
    Similarity: Belongs to the septin family


    Find genes that share domains with SEPT5           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: SEPT5_HUMAN, Q99719
    Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May
    play a role in platelet secretion (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS9385360
    GO:0005198structural molecule activity TAS9611266
    GO:0005515protein binding IPI10321247
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with SEPT5           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sept5):
     behavior/neurological  cardiovascular system  hematopoietic system  homeostasis/metabolism  nervous system 

    Find genes that share phenotypes with SEPT5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SEPT5: Sept5tm1Wtr Sept5tm1Bld

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEPT5
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SEPT5_HUMAN, Q99719: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=In platelets, found
    in areas surrounding alpha-granules
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton3
    cytosol3
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IDA10321247
    GO:0005938cell cortex ----
    GO:0008021synaptic vesicle IDA10321247
    GO:0031105septin complex IEA--
    GO:0043195terminal bouton IEA--

    Find genes that share ontologies with SEPT5           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 SEPT5 About    
    See pathways by source

    SuperPathContained pathways About
    1Parkin-Ubiquitin Proteasomal System pathway
    Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway0.89
    Parkin-Ubiquitin Proteasomal System pathway0.89
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.57
    3Proteolysis Putative ubiquitin pathway
    Proteolysis Putative ubiquitin pathway
    4Parkinsons Disease Pathway
    Parkinsons Disease Pathway


    Find genes that share SuperPaths with SEPT5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SEPT5
        RhoA Pathway
    Rho Family GTPases
    Parkinson's Disease Pathway

    2 GeneGo (Thomson Reuters) Pathways for SEPT5
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Putative ubiquitin pathway

    2 BioSystems Pathways for SEPT5
        Parkin-Ubiquitin Proteasomal System pathway
    Parkinsons Disease Pathway


    1 Kegg Pathway  (Kegg details for SEPT5):
        Parkinson's disease

        Pathway & Disease-focused RT2 Profiler PCR Array including SEPT5: 
              Parkinson's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SEPT5

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

    Selected Interacting proteins for SEPT5 (Q997191, 2, 3 ENSP000003913114) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SEPT11Q9NVA21, 3, ENSP000002648934EBI-373345,EBI-957999 I2D: score=2 STRING: ENSP00000264893
    MAPK6Q166592, 3MINT-8261923 I2D: score=2 
    SEPT8Q925993, ENSP000003679914I2D: score=5 STRING: ENSP00000367991
    KAT7O952513, ENSP000002590214I2D: score=4 STRING: ENSP00000259021
    SEPT2Q150193, ENSP000003531574I2D: score=3 STRING: ENSP00000353157
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis TAS9611266
    GO:0006184GTP catabolic process TAS9385360
    GO:0007049cell cycle ----
    GO:0016080synaptic vesicle targeting TAS10321247
    GO:0017157regulation of exocytosis IMP10321247

    Find genes that share ontologies with SEPT5           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 SEPT5



    (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 SEPT5 gene (2 alternative transcripts): 
    NM_001009939.2  NM_002688.5  

    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000455784 ENST00000406395 ENST00000406172 ENST00000412544 ENST00000455843(uc002zpw.1 uc002zpx.1)
    ENST00000431124 ENST00000490204 ENST00000383045 ENST00000438754 ENST00000431044(uc002zpv.2 uc002zpz.2)
    ENST00000395109 ENST00000477238 ENST00000413258 ENST00000480423 ENST00000470814

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    4 qRT-PCR Assays for microRNAs that regulate SEPT5:
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    Selected AceView cDNA sequences (see all 453):

    BX410920 CA390193 R15081 F04630 CR613594 BX460250 CR609357 F03453 
    NM_002688 AA351247 AI824899 CA396800 AI197816 CB153148 BX432432 CR610263 
    CB153635 AU143666 CR598470 NM_000407 BG057034 BF882335 BG152501 CR605683 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEPT5 (see all 9)    About this scheme

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

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


    ECgene alternative splicing isoforms for SEPT5

    (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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    SEPT5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SEPT5 Expression
    About this image


    SEPT5 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 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)
             Trachea
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones
    SEPT5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEPT5 Protein Expression

    UniProtKB/Swiss-Prot: SEPT5_HUMAN, Q99719
    Tissue specificity: Expressed at high levels in the CNS, as well as in heart and platelets (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including SEPT5: 
              Parkinson's Disease in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT5

    (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 SEPT5 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sept51 , 5 septin 51, 5 89.52(n)1
    98.92(a)1
      16 (11.53 cM)5
    189511  NM_213614.21  NP_998779.21 
     186218115 
    chicken
    (Gallus gallus)
    Aves SEP-051 septin 5 82.66(n)
    93.77(a)
      416778  NM_001030654.2  NP_001025825.2 
    lizard
    (Anolis carolinensis)
    Reptilia SEPT56
    septin 5
    75(a)
    1 ↔ 1
    GL343282.1(1592151-1629022)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sept51 septin 5 78.32(n)
    92.14(a)
      100125069  NM_001102983.1  NP_001096453.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC059564.12   -- 78.79(n)   335925  BC059564.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sep46
    Septin 4
    50(a)
    1 → many
    X(16578244-16589206)


    ENSEMBL Gene Tree for SEPT5 (if available)
    TreeFam Gene Tree for SEPT5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEPT5 gene
    SEPT32  SEPT92  SEPT142  SEPT42  SEPT12  SEPT122  SEPT72  ENSG000002704662  
    SEPT62  SEPT112  SEPT22  SEPT102  SEPT82  
    17 SIMAP similar genes for SEPT5 using alignment to 10 protein entries:     SEPT5_HUMAN (see all proteins):
    SEPT4    SEPT2    SEPT1    Nbla02942    DKFZp686F17268    SEPT7
    SEPT9    MAFK    SEPT3    SEPT12    DKFZp564M1416    SEPT8
    SEPT10    DKFZp547B243    SEPT14    SEPT11    SEPT6

    Find genes that share paralogs with SEPT5           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 SEPT5 (see all 51)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs96061471,2
    C--3641714(+) CTTGTC/TTCAAG 1 -- int11Minor allele frequency- T:0.00NA 2
    rs733779351,2
    C,F--19700058(+) GCAGGG/TCTCCT 1 -- us2k13Minor allele frequency- T:0.23WA 122
    rs1135726501,2
    C,F--19700196(+) AGTGCC/TCCTAC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs119128771,2
    H--19700244(+) tttttA/Ttgaga 1 -- us2k1 trp30--------
    rs1893377971,2
    --19700331(+) GAGTTC/TAAGTG 1 -- us2k10--------
    rs1139527481,2
    C,F--19700378(+) CAGGCG/ATGTGC 1 -- us2k12Minor allele frequency- A:0.50WA CSA 4
    rs759810601,2
    C--19700407(+) TTTTGG/TATTTT 1 -- us2k10--------
    rs1117054511,2
    C,F--19700415(+) TTTTAG/ATAGAC 1 -- us2k12Minor allele frequency- A:0.50WA CSA 4
    rs1439014601,2
    --19700420(+) ATAGAC/TGGGGT 1 -- us2k10--------
    rs1407630871,2
    C--19700604(+) AATAC-/ATATGTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SEPT5 (19701987 - 19712295 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SEPT5 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv435744CNV Deletion17901297
    nsv828943CNV Loss20364138
    nsv914279CNV Loss21882294
    nsv517478CNV Loss19592680
    dgv4842n71CNV Loss21882294
    dgv4841n71CNV Loss21882294
    nsv914288CNV Loss21882294
    nsv914283CNV Loss21882294
    nsv834129CNV Loss17160897
    nsv914280CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEPT5
    DNA2.0 Custom Variant and Variant Library Synthesis for SEPT5

    (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: 602724    OMIM disorders: --

    2 diseases for SEPT5:    
    About MalaCards
    myeloid leukemia    acute myeloid leukemia


    Find genes that share disorders with SEPT5           About GenesLikeMe

    4 Novoseek inferred disease relationships for SEPT5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    velo-cardio-facial syndrome 71.7 2 10940632 (1)
    digeorge syndrome 60.2 2 10940632 (1)
    leukemia 0 2 16767699 (1)
    tumors 0 4 16179808 (2), 20136629 (1), 11167005 (1)


    Export disorders for SEPT5 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 SEPT5 gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with SEPT5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and expression of the human septin gene HCDCREL-1. (PubMed id 9611266)1, 2, 3 Yagi M.... Ware J. (Gene 1998)
    2. A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. (PubMed id 9385360)1, 2, 3 McKie J.... Scambler P.J. (Hum. Genet. 1997)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    5. 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)
    6. Dopamine-dependent neurodegeneration in rats induced by viral vector- mediated overexpression of the parkin target protein, CDCrel-1. (PubMed id 14530399)1, 2 Dong Z.... Bueeler H. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    7. Human septin-septin interaction: CDCrel-1 partners with KIAA0202. (PubMed id 12023038)1, 2 Blaeser S.... Zieger B. (FEBS Lett. 2002)
    8. A prototypic platelet septin and its participation in secretion. (PubMed id 11880646)1, 2 Dent J.... Ware J. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence. (PubMed id 9022087)1, 2 Zieger B.... Ware J. (J. Clin. Invest. 1997)
    10. Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5. (PubMed id 16767699)1, 9 BlAoser S....Zieger B. (J. Pathol. 2006)

    (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: 5413 HGNC: 9164 AceView: GP1BBandPNUTL1 Ensembl:ENSG00000184702 euGenes: HUgn5413
    ECgene: SEPT5 Kegg: 5413 H-InvDB: SEPT5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SEPT5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SEPT5 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 SEPT5 gene:
    Search GeneIP for patents involving SEPT5

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



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