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SEPTIN6 septin 6 [ Homo sapiens (human) ]

Gene ID: 23157, updated on 3-Nov-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
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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. MiR-223-3p targeting SEPT6 promotes the biological behavior of prostate cancer. Wei Y, et al. Sci Rep, 2014 Dec 18. PMID 25519054, Free PMC Article
  2. MLL-SEPT6 fusion transcript with a novel sequence in an infant with acute myeloid leukemia. Kadkol SS, et al. Cancer Genet Cytogenet, 2006 Jul 15. PMID 16843108
  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. 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
  5. Borg/septin interactions and the assembly of mammalian septin heterodimers, trimers, and filaments. Sheffield PJ, et al. J Biol Chem, 2003 Jan 31. PMID 12446710

See all (104) 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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NEW Try the new Transcript table

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

Gene LinkOut

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