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SEPT4 Gene

protein-coding   GIFtS: 55
GCID: GC17M056597

Septin 4

(Previous name: peanut-like 2 (Drosophila))
(Previous symbol: PNUTL2)
  See SEPT4-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Septin 41 2     SEP42 3
PNUTL21 2 3 5     CE5B3 Beta2 3
septin-M1 2     hCDCREL-22 3
Apoptosis-Related Protein In The TGF-Beta Signaling Pathway2 3     bradeoin1
Bradeion Beta2 3     Peanut-Like 2 (Drosophila)1
Brain Protein H52 3     BRADEION2
Cell Division Control-Related Protein 22 3     CE5B32
Cerebral Protein 72 3     H52
Peanut-Like Protein 22 3     MART2
ARTS2 3     septin-42

External Ids:    HGNC: 91651   Entrez Gene: 54142   Ensembl: ENSG000001083877   OMIM: 6036965   UniProtKB: O432363   

Export aliases for SEPT4 gene to outside databases

Previous GC identifers: GC17M053953 GC17M051957


(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 SEPT4 Gene:
This gene is a member of the septin 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 highly expressed in brain and heart. Alternatively spliced
transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as
ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. (provided by
RefSeq, Nov 2010)

GeneCards Summary for SEPT4 Gene:
SEPT4 (septin 4) is a protein-coding gene. Diseases associated with SEPT4 include hereditary neuralgic amyotrophy. GO annotations related to this gene include structural molecule activity and GTP binding. An important paralog of this gene is SEPT3.

UniProtKB/Swiss-Prot: SEPT4_HUMAN, O43236
Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May
play a role in platelet secretion. Isoform ARTS, but not the other isoforms, is required for the induction of
cell death mediated by TGF-beta and by other apoptotic stimuli

Gene Wiki entry for SEPT4 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 SEPT4 gene promoter:
         CHOP-10   Elk-1   NF-1   NF-1/L   Lmo2   C/EBPalpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SEPT4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SEPT4


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

Entrez Gene cytogenetic band: 17q22   Ensembl cytogenetic band:  17q22   HGNC cytogenetic band: 17q22

SEPT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPT4 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M056597:  view genomic region     (about GC identifiers)

Start:
56,597,611 bp from pter      End:
56,618,179 bp from pter
Size:
20,569 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SEPT4_HUMAN, O43236 (See protein sequence)
Recommended Name: Septin-4  
Size: 478 amino acids; 55098 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 SEPT8. In a mesenchymal cell line, interacts with SEPT9 isoform 2 variants HNA
Trp-106 and Phe-111, but not the wild type SEPT9. Isoform ARTS, but no other isoforms, interacts with XIAP after
the induction of apoptosis
Secondary accessions: B2RD42 B3KSX9 B4DXC6 B4DXV5 Q6IAP3 Q9H315 Q9UM58
Alternative splicing: 6 isoforms:  O43236-1   O43236-2   O43236-3   O43236-4   O43236-5   O43236-6   (May be defective in GTP-binding)

Explore the universe of human proteins at neXtProt for SEPT4: NX_O43236

Explore proteomics data for SEPT4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SEPT4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001185642.1  NP_001243711.1  NP_001243751.1  NP_004565.1  NP_536340.1  NP_536341.1  

    ENSEMBL proteins: 
     ENSP00000463768   ENSP00000402348   ENSP00000464373   ENSP00000321674   ENSP00000402000  
     ENSP00000462727   ENSP00000321071   ENSP00000414779   ENSP00000464382   ENSP00000463671  
     ENSP00000462278   ENSP00000462362   ENSP00000463461   ENSP00000464360   ENSP00000376801  

    SEPT4 Human Recombinant Protein Products:

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    Novus Biologicals SEPT4 Protein
    Novus Biologicals SEPT4 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 SEPT4 

    SEPT4 Antibody Products:

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    ThermoFisher Antibodies for SEPT4
    Search LSBio for Antibodies for SEPT4

    SEPT4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SEPT4 


    (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 O43236

    ProtoNet protein and cluster: O43236

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

    UniProtKB/Swiss-Prot: SEPT4_HUMAN, O43236
    Similarity: Belongs to the septin family


    Find genes that share domains with SEPT4           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: SEPT4_HUMAN, O43236
    Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May
    play a role in platelet secretion. Isoform ARTS, but not the other isoforms, is required for the induction of
    cell death mediated by TGF-beta and by other apoptotic stimuli

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity TAS9889007
    GO:0005198structural molecule activity TAS9889007
    GO:0005515protein binding IPI17685441
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with SEPT4           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for SEPT4:
     Increased G1 DNA content  Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Sept4):
     reproductive system 

    Find genes that share phenotypes with SEPT4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SEPT4: Sept4tm1Hs Sept4tm1Ksh

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SEPT4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SEPT4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SEPT4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SEPT4

    miRNA
    Products:
        
    miRTarBase miRNAs that target SEPT4:
    hsa-mir-335-5p (MIRT017716), hsa-let-7b-5p (MIRT032353)

    Block miRNA regulation of human, mouse, rat SEPT4 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate SEPT4:
    hsa-miR-330-5p hsa-miR-326
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SEPT4

    Gene Editing
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    Clone
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    GenScript Custom all cDNA clones Services for SEPT4
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SEPT4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPT4

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPT4


    (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
    SEPT4_HUMAN, O43236: Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=In platelets, found
    in areas surrounding alpha-granules
    SEPT4_HUMAN, O43236: Isoform ARTS: Mitochondrion. Nucleus. Note=While predominantly localized in the mitochondria
    under resting conditions, isoform ARTS translocates into the nucleus after TGF-beta treatment and apoptosis
    induction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol3
    cytoskeleton2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11146656
    GO:0005739mitochondrion NAS11146656
    GO:0005856cytoskeleton IEA--
    GO:0031105septin complex ----
    GO:0031514motile cilium IEA--

    Find genes that share ontologies with SEPT4           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 SEPT4 About    
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis (WikiPathways)
    Apoptosis Modulation and Signaling0.38

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SEPT4
        RhoA Pathway
    Rho Family GTPases

    1 BioSystems Pathway for SEPT4
        Apoptosis Modulation and Signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SEPT4
    Interactions:

        GeneGlobe Interaction Network for SEPT4

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

    Selected Interacting proteins for SEPT4 (O432361, 2, 3 ENSP000003216744) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIAH1Q8IUQ41, 3, ENSP000003491564EBI-4372019,EBI-747107 I2D: score=1 STRING: ENSP00000349156
    XIAPP981701, 3, ENSP000003478584EBI-4372019,EBI-517127 I2D: score=2 STRING: ENSP00000347858
    SEPT8Q925993, ENSP000003679914I2D: score=3 STRING: ENSP00000367991
    PARK2O602603, ENSP000003558654I2D: score=1 STRING: ENSP00000355865
    SEPT14Q6ZU153, ENSP000003736274I2D: score=1 STRING: ENSP00000373627
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis TAS9889007
    GO:0006184GTP catabolic process TAS9889007
    GO:0006915apoptotic process NAS11146656
    GO:0007049cell cycle ----
    GO:0007286spermatid development ----

    Find genes that share ontologies with SEPT4           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 SEPT4

    1 Novoseek inferred chemical compound relationship for SEPT4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopamine 7.08 1 17296554 (1)



    Find genes that share compounds with SEPT4           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 SEPT4 gene (7 alternative transcripts): 
    NM_001198713.1  NM_001256782.1  NM_001256822.1  NM_004574.4  NM_080415.3  NM_080416.3  NM_080417.1  

    Unigene Cluster for SEPT4:

    Septin 4
    Hs.287518  [show with all ESTs]
    Unigene Representative Sequence: NR_037155
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000583114(uc002iwk.2) ENST00000426861(uc002iwo.2 uc002iwp.2)
    ENST00000580796(uc010wnw.2 uc002iwl.2) ENST00000582270(uc010dcy.2)
    ENST00000579371 ENST00000583273 ENST00000317268(uc002iwm.2) ENST00000577440
    ENST00000457347(uc010wny.2 uc010wnx.2) ENST00000580844 ENST00000317256
    ENST00000412945 ENST00000584488 ENST00000580809 ENST00000577729 ENST00000581615
    ENST00000578131 ENST00000585170
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SEPT4 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate SEPT4:
    hsa-miR-330-5p hsa-miR-326
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SEPT4
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SEPT4
    Primer
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    OriGene qPCR primer pairs and template standards for SEPT4
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SEPT4
      QuantiTect SYBR Green Assays in human, mouse, rat SEPT4
      QuantiFast Probe-based Assays in human, mouse, rat SEPT4

    Additional mRNA sequence: 

    AB002110.1 AB008753.1 AB010642.1 AF035811.1 AF073312.1 AF176379.1 AK022400.1 AK091065.1 
    AK294094.1 AK295527.1 AK301914.1 AK302146.1 AK308957.1 AK314528.1 AK315045.1 AK315396.1 
    BC018055.1 BC018056.1 BC128255.1 BC128515.1 BC142968.1 CR457111.1 D89278.1 NR_037155.1 
    U88829.1 U88870.1 

    Selected DOTS entries (see all 31):

    DT.100793369  DT.40110818  DT.456406  DT.216724  DT.100027777  DT.101983194  DT.40108205  DT.95137261 
    DT.120999949  DT.95175652  DT.120999931  DT.100793366  DT.101958055  DT.95137259  DT.100793368  DT.101979991 
    DT.40250514  DT.75107899  DT.75164077  DT.92436912  DT.95137268  DT.120999972  DT.121000056  DT.75127434 

    Selected AceView cDNA sequences (see all 210):

    AU122529 BI771836 NM_080417 BM918665 BM694115 AK094579 CR597931 AB002110 
    AF073312 BI833148 D89278 CR603899 NM_004574 BU902282 CD635818 CD675066 
    AK022400 AB008753 BI833961 BQ636911 CB154934 AW196628 BI752203 CR604379 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SEPT4 (see all 25)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b · 7c ^ 8a ·
    SP1:                                      -     -     -     -     -     -     -     -     -     -     -                             -     -     -     -         
    SP2:                                                                                -     -     -     -                             -     -     -     -         
    SP3:                                      -     -     -     -     -     -     -     -     -     -     -                             -     -     -     -         
    SP4:                                      -     -     -     -     -     -     -     -     -     -     -                             -     -     -     -         
    SP5:                                      -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -         

    ExUns: 8b · 8c · 8d · 8e ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18
    SP1:                                      -     -                 -                                                   
    SP2:                                      -     -                 -                                                   
    SP3:                                            -                                                                     
    SP4:                                      -     -                                                                     
    SP5:                                      -     -                 -                                                   


    ECgene alternative splicing isoforms for SEPT4

    (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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    SEPT4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGGCCCCTC
    SEPT4 Expression
    About this image


    SEPT4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
             Ureteric Bud
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Horizontal Cells Inner Nuclear Layer
             Retina
     
     Gonad
             Primordial germ cell-like cells
     
     Bone (Muscoskeletal System)
             TGFbeta3+BMP7-induced chondrocytes
    SEPT4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SEPT4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.287518

    UniProtKB/Swiss-Prot: SEPT4_HUMAN, O43236
    Tissue specificity: Widely expressed in adult and fetal tissues with highest expression in adult brain (at protein
    level), heart, liver and adrenal gland and fetal heart, kidney, liver and lung. Also expressed in colorectal
    cancers and malignant melanomas. Expressed in platelets

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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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SEPT4 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sept41 , 5 septin 41, 5 89.75(n)1
    92.68(a)1
      11 (52.14 cM)5
    189521  NM_011129.21  NP_035259.11 
     875689035 
    chicken
    (Gallus gallus)
    Aves SEPT41 septin 4 75.55(n)
    79.74(a)
      770762  XM_001234087.3  XP_001234088.3 
    lizard
    (Anolis carolinensis)
    Reptilia SEPT46
    septin 4
    89(a)
    1 ↔ 1
    GL344042.1(55995-70935)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004856251 septin-4-like 72.48(n)
    76.56(a)
      100485625  XM_002933607.2  XP_002933653.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sept4b1 septin 4b 72.89(n)
    78.36(a)
      100003446  XM_005169651.1  XP_005169708.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sep46
    Septin 4
    51(a)
    1 → many
    X(16578244-16589206)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC12(YHR107C)4
    CDC121
    Component of the septin ring of the mother-bud neck more4
    CDC121
    50.76(n)1
    47.08(a)1
      8(328036-326813)4
    8565071, 4  NP_011975.11, 4 


    ENSEMBL Gene Tree for SEPT4 (if available)
    TreeFam Gene Tree for SEPT4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SEPT4 gene
    SEPT32  SEPT92  SEPT142  SEPT12  SEPT122  SEPT72  ENSG000002704662  SEPT62  
    SEPT112  SEPT22  SEPT102  SEPT82  SEPT52  
    17 SIMAP similar genes for SEPT4 using alignment to 12 protein entries:     SEPT4_HUMAN (see all proteins):
    CE5B3 alpha    SEPT5    SEPT1    SEPT2    SEPT7    DKFZp686F17268
    Nbla02942    SEPT3    SEPT9    SEPT8    MAFK    SEPT12
    SEPT14    DKFZp547B243    SEPT10    SEPT11    SEPT6

    Find genes that share paralogs with SEPT4           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 SEPT4 (see all 395)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs107193151,2
    C--51958529(+) GGGAG-/AAAAGG 7 -- nc-transcript-variantint1 ut31 trp31Minor allele frequency- A:0.00CSA 2
    rs30348921,2
    C--51967487(-) AAAAA-/A/AA  
      
    /AAA/G
    CAAAT
    13 -- us2k1 cds1 int1 trp31NA 2
    rs358792491,2
    C--56619441(+) CCCTCA/-AGCCC 2 -- us2k12Minor allele frequency- -:0.25NA CSA 4
    rs1407875801,2
    C--57612732(+) CGCCCA/GGCTAT 7 -- int1 ds50010--------
    rs1496828961,2
    --57612828(+) TGGTAG/TCCCTG 7 -- int1 ds50010--------
    rs1917397381,2
    --57612904(+) AGGTAC/GGAATC 7 -- int1 ds50010--------
    rs1818929711,2
    --57613140(+) ATCTTG/TATCTC 7 -- int1 ds50010--------
    rs1138698941,2
    C--57613179(+) CAGAAC/G/TCCACC 14 -- nc-transcript-variantut311CSA 1
    rs1445866081,2
    C--57613348(+) AGCCAG/TTTAAT 7 -- nc-transcript-variantut312Minor allele frequency- T:0.00NA EU 5477
    rs1484833561,2
    C,F--57613404(+) TCCGCC/TGCAGC 12 Q R nc-transcript-variantmis1 ut311Minor allele frequency- T:0.00NA 4550

    HapMap Linkage Disequilibrium report for SEPT4 (56597611 - 56618179 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SEPT4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908641CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SEPT4
    DNA2.0 Custom Variant and Variant Library Synthesis for SEPT4

    (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: 603696    OMIM disorders: --

    1 disease for SEPT4:    
    About MalaCards
    hereditary neuralgic amyotrophy


    Find genes that share disorders with SEPT4           About GenesLikeMe

    1 Novoseek inferred disease relationship for SEPT4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parkinson disease 45.8 1 17296554 (1)

    Genetic Association Database (GAD): SEPT4
    Human Genome Epidemiology (HuGE) Navigator: SEPT4 (2 documents)

    Export disorders for SEPT4 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 SEPT4 gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with SEPT4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a novel gene, PNUTL2, on human chromosome 17q22- q23 and its exclusion as the Meckel syndrome gene. (PubMed id 9889007)1, 2, 3, 9 Paavola P.... Peltonen L. (Genomics 1999)
    2. The novel human platelet septin SEPT8 is an interaction partner of SEPT4. (PubMed id 15116257)1, 2, 9 Blaeser S.... Zieger B. (Thromb. Haemost. 2004)
    3. Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2. (PubMed id 11167005)1, 2, 9 Zieger B.... Ware J. (Gene 2000)
    4. A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif. (PubMed id 11146656)1, 2, 9 Larisch S.... Roberts A.B. (Nat. Cell Biol. 2000)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling. (PubMed id 17546647)1, 2 Sudo K.... Nagata K. (Hum. Mutat. 2007)
    7. Regulation of the proapoptotic ARTS protein by ubiquitin-mediated degradation. (PubMed id 15837787)1, 2 Lotan R.... Larisch S. (J. Biol. Chem. 2005)
    8. The mitochondrial ARTS protein promotes apoptosis through targeting XIAP. (PubMed id 15029247)1, 2 Gottfried Y.... Larisch S. (EMBO J. 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. 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)

    (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: 5414 HGNC: 9165 AceView: PNUTL2 Ensembl:ENSG00000108387 euGenes: HUgn5414
    ECgene: SEPT4 H-InvDB: SEPT4

    (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 SEPT4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SEPT4 gene:
    Search GeneIP for patents involving SEPT4

    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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