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    SEPTIN6 septin 6 [ Homo sapiens (human) ]

    Gene ID: 23157, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SEPTIN6provided by HGNC
    Official Full Name
    septin 6provided by HGNC
    Primary source
    HGNC:HGNC:15848
    See related
    Ensembl:ENSG00000125354 MIM:300683; AllianceGenome:HGNC:15848
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SEP2; SEPT2; SEPT6; Septin-6
    Summary
    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]
    Expression
    Broad expression in lymph node (RPKM 36.8), adrenal (RPKM 23.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SEPTIN6 in Genome Data Viewer
    Location:
    Xq24
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119615724..119693168, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (117993452..118071836, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (118749687..118827131, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118708298-118708798 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118708799-118709299 Neighboring gene ubiquitin conjugating enzyme E2 A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29882 Neighboring gene NFKB repressing factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29886 Neighboring gene microRNA 766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:118811626-118812126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29897 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:118902711-118903910 Neighboring gene sosondowah ankyrin repeat domain family member D Neighboring gene small nucleolar RNA, H/ACA box 69 Neighboring gene ribosomal protein L39

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Phosphorylation of a new brain-specific septin, G-septin, by cGMP-dependent protein kinase. Xue J, et al. J Biol Chem, 2000 Apr 7. PMID 10744683
    2. Orientational Ambiguity in Septin Coiled Coils and its Structural Basis. Leonardo DA, et al. J Mol Biol, 2021 Apr 30. PMID 33639214
    3. SEPT6 drives hepatocellular carcinoma cell proliferation, migration and invasion via the Hippo/YAP signaling pathway. Fan Y, et al. Int J Oncol, 2021 Jun. PMID 33846777, Free PMC Article
    4. MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site. Slater DJ, et al. Oncogene, 2002 Jul 11. PMID 12096348
    5. Effect of SEPT6 on the biological behavior of hepatic stellate cells and liver fibrosis in rats and its mechanism. Fan Y, et al. Lab Invest, 2019 Jan. PMID 30315255

    See all (102) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA AFAP1-AS1 Knockdown Represses Cell Proliferation, Migration, and Induced Apoptosis in Breast Cancer by Downregulating SEPT2 Via Sponging miR-497-5p.
      Title: LncRNA AFAP1-AS1 Knockdown Represses Cell Proliferation, Migration, and Induced Apoptosis in Breast Cancer by Downregulating SEPT2 Via Sponging miR-497-5p.
    2. LSD1-mediated stabilization of SEPT6 protein activates the TGF-beta1 pathway and regulates non-small-cell lung cancer metastasis.
      Title: LSD1-mediated stabilization of SEPT6 protein activates the TGF-β1 pathway and regulates non-small-cell lung cancer metastasis.
    3. SEPT6 drives hepatocellular carcinoma cell proliferation, migration and invasion via the Hippo/YAP signaling pathway.
      Title: SEPT6 drives hepatocellular carcinoma cell proliferation, migration and invasion via the Hippo/YAP signaling pathway.
    4. An atomic model for the human septin hexamer by cryo-EM.
      Title: An atomic model for the human septin hexamer by cryo-EM.
    5. Orientational Ambiguity in Septin Coiled Coils and its Structural Basis.
      Title: Orientational Ambiguity in Septin Coiled Coils and its Structural Basis.
    6. Molecular Recognition at Septin Interfaces: The Switches Hold the Key.
      Title: Molecular Recognition at Septin Interfaces: The Switches Hold the Key.
    7. Septin2 mediates podosome maturation and endothelial cell invasion associated with angiogenesis.
      Title: Septin2 mediates podosome maturation and endothelial cell invasion associated with angiogenesis.
    8. regulates various biological behaviors in hepatic stellate cells through TGF-beta1/Smad, mitogen-activated protein kinases and phosphatidylinositol-3-kinase/protein kinase B signaling pathways, thus promoting liver fibrosis
      Title: Effect of SEPT6 on the biological behavior of hepatic stellate cells and liver fibrosis in rats and its mechanism.
    9. Results demonstrate that in stored platelets, septine-2 and septin-6 mRNAs have miR- 223 target sites, septin-2 and septin-6 are in complex with Ago-2. The results demonstrate that like in nucleated cells, enucleated platelets also have microRNA-based mechanisms for the regulation of their septins.
      Title: MicroRNA-223 Regulates Septin-2 and Septin-6 in Stored Platelets.
    10. SUMOylation of human septins is critical for septin filament bundling and cytokinesis.
      Title: SUMOylation of human septins is critical for septin filament bundling and cytokinesis.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0128, MGC16619, MGC20339

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molecular adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoskeleton-dependent cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cytokinesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in axon terminus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cell division site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cleavage furrow IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in midbody IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in septin collar IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of septin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of septin complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in septin ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm annulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    septin-6
    Names
    septin 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012565.1 RefSeqGene

      Range
      5203..81426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001410710.1 → NP_001397639.1  septin-6 isoform E

      Status: REVIEWED

      Source sequence(s)
      AC004913, AC005052, AL355348
      Consensus CDS
      CCDS94661.1
      UniProtKB/TrEMBL
      B1AMS2
      Related
      ENSP00000346397.3, ENST00000354416.7

    2. NM_015129.6 → NP_055944.2  septin-6 isoform B

      See identical proteins and their annotated locations for NP_055944.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (II) encodes the longest isoform (B).
      Source sequence(s)
      AC004913, AC005052, AL355348
      Consensus CDS
      CCDS14584.1
      UniProtKB/Swiss-Prot
      Q14141, Q5JTK0, Q969W5, Q96A13, Q96GR1, Q96P86, Q96P87
      UniProtKB/TrEMBL
      Q6NT82
      Related
      ENSP00000341524.5, ENST00000343984.5
      Conserved Domains (1) summary
      cd01850
      Location:39 → 307
      CDC_Septin; CDC/Septin GTPase family

    3. NM_145799.4 → NP_665798.1  septin-6 isoform A

      See identical proteins and their annotated locations for NP_665798.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (I) contains an additional segment in the 3' coding region, which leads to a frameshift and immediate translation termination, as compared to variant II. The resulting isoform (A) is truncated at the C-terminus, as compared to isoform B.
      Source sequence(s)
      AC004913, AY005981, AY034177
      Consensus CDS
      CCDS14585.1
      UniProtKB/TrEMBL
      Q541S4, Q6NT82
      Related
      ENSP00000378108.1, ENST00000394610.7
      Conserved Domains (1) summary
      cd01850
      Location:39 → 307
      CDC_Septin; CDC/Septin GTPase family

    4. NM_145800.4 → NP_665799.1  septin-6 isoform A

      See identical proteins and their annotated locations for NP_665799.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (III) contains an alternate 3' sequence, as compared to variant II. The resulting isoform (A) is truncated at the C-terminus, as compared to isoform B.
      Source sequence(s)
      AC004913, AC005052, AL355348
      Consensus CDS
      CCDS14585.1
      UniProtKB/TrEMBL
      Q541S4, Q6NT82
      Related
      ENSP00000353278.7, ENST00000360156.11
      Conserved Domains (1) summary
      cd01850
      Location:39 → 307
      CDC_Septin; CDC/Septin GTPase family

    5. NM_145802.4 → NP_665801.1  septin-6 isoform D

      See identical proteins and their annotated locations for NP_665801.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (V) contains an alternate 3' exon, as compared to variant II. It encodes isoform D, that is shorter and has a distinct C-terminus, as compared to isoform B.
      Source sequence(s)
      AC004913, AC005052, AL355348
      Consensus CDS
      CCDS14583.1
      UniProtKB/TrEMBL
      Q548C9, Q6NT82
      Related
      ENSP00000346169.4, ENST00000354228.8
      Conserved Domains (1) summary
      cd01850
      Location:39 → 307
      CDC_Septin; CDC/Septin GTPase family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      119615724..119693168 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531317.4 → XP_011529619.1  septin-6 isoform X1

      UniProtKB/TrEMBL
      Q6NT82
      Conserved Domains (2) summary
      cd01850
      Location:39 → 307
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:21 → 373
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    2. XM_011531318.4 → XP_011529620.1  septin-6 isoform X3

      See identical proteins and their annotated locations for XP_011529620.1

      UniProtKB/TrEMBL
      Q6NT82
      Conserved Domains (1) summary
      cd01850
      Location:39 → 307
      CDC_Septin; CDC/Septin GTPase family

    3. XM_005262400.5 → XP_005262457.1  septin-6 isoform X2

      See identical proteins and their annotated locations for XP_005262457.1

      UniProtKB/TrEMBL
      Q6NT82
      Conserved Domains (2) summary
      cd01850
      Location:39 → 307
      CDC_Septin; CDC/Septin GTPase family
      COG5019
      Location:21 → 373
      CDC3; Septin family protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    4. XM_047441938.1 → XP_047297894.1  septin-6 isoform X4

      Related
      ENSP00000435818.1, ENST00000460411.5

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791817.1 Reference GRCh38.p14 PATCHES

      Range
      66726..126670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      117993452..118071836 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326727.1 → XP_054182702.1  septin-6 isoform X1

    2. XM_054326730.1 → XP_054182705.1  septin-6 isoform X5

      UniProtKB/Swiss-Prot
      Q14141, Q5JTK0, Q969W5, Q96A13, Q96GR1, Q96P86, Q96P87

    3. XM_054326729.1 → XP_054182704.1  septin-6 isoform X3

    4. XM_054326728.1 → XP_054182703.1  septin-6 isoform X2

    5. XM_054326731.1 → XP_054182706.1  septin-6 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14141.4 GenPept UniProtKB/Swiss-Prot:Q14141

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