Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SEPT6 Gene

Aliases for SEPT6 Gene

  • Septin 6 2 3 5
  • SEP2 3 4
  • Septin 2 3
  • Septin-6 3
  • KIAA0128 4
  • SEPT2 3

External Ids for SEPT6 Gene

Previous GeneCards Identifiers for SEPT6 Gene

  • GC0XM113567
  • GC0XM115735
  • GC0XM116725
  • GC0XM117503
  • GC0XM118531
  • GC0XM118633
  • GC0XM118750
  • GC0XM108243

Summaries for SEPT6 Gene

Entrez Gene Summary for SEPT6 Gene

  • 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]

GeneCards Summary for SEPT6 Gene

SEPT6 (Septin 6) is a Protein Coding gene. Diseases associated with SEPT6 include Sexual Disorder and Leukemia, Acute Myeloid. Among its related pathways are Bacterial invasion of epithelial cells. GO annotations related to this gene include GTP binding. An important paralog of this gene is SEPT11.

UniProtKB/Swiss-Prot for SEPT6 Gene

  • Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Involved in cytokinesis. May play a role in HCV RNA replication. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830).

Gene Wiki entry for SEPT6 Gene

Additional gene information for SEPT6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT6 Gene

Genomics for SEPT6 Gene

Regulatory Elements for SEPT6 Gene

Enhancers for SEPT6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH119674 2 FANTOM5 Ensembl ENCODE dbSUPER 18.8 +8.7 8667 20 HDGF PKNOX1 ARNT ZFP64 SIN3A ARID4B FEZF1 YY1 ZNF143 SP3 NKAPP1 EEF1A1P30 CUL4B NKAP SEPT6 NKRF UPF3B MIR766 CXorf56 SLC25A5-AS1
GH0XH119753 1.3 FANTOM5 ENCODE 2.3 -63.2 -63210 5 HDGF PKNOX1 SIN3A ARID4B DMAP1 ZNF121 GLIS2 ZNF143 ATF7 KLF7 MIR766 EEF1A1P30 NKAPP1 SOWAHD UPF3B RNF113A NDUFA1 SEPT6 ZBTB33 PIR44405
GH0XH119653 1.2 Ensembl ENCODE dbSUPER 0.3 +38.5 38477 2 EBF1 BATF FOSL1 ZNF121 ZFHX2 POLR2A NCOR1 EGR1 FOS RUNX3 CXorf56 GC0XM119647 MIR766 SEPT6
GH0XH119669 1.2 Ensembl ENCODE dbSUPER 0.3 +23.6 23604 1 SOX13 FOXA2 SAP130 ARID4B DMAP1 ZNF644 TEAD3 POLR2A RCOR1 SOX5 MIR766 SEPT6 GC0XM119647
GH0XH119666 0.9 ENCODE dbSUPER 0.3 +25.9 25878 1 MAZ KLF1 FEZF1 ZNF398 ZIC2 ZFHX2 ZNF341 GLIS1 PATZ1 FOXP2 MIR766 GC0XM119647 SEPT6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEPT6 on UCSC Golden Path with GeneCards custom track

Promoters for SEPT6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000248360 570 2401 ATF1 ARNT SIN3A ARID4B YY1 GLIS2 KLF7 ATF7 RUNX3 SP3

Genomic Location for SEPT6 Gene

Chromosome:
X
Start:
119,615,724 bp from pter
End:
119,693,370 bp from pter
Size:
77,647 bases
Orientation:
Minus strand

Genomic View for SEPT6 Gene

Genes around SEPT6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT6 Gene

Proteins for SEPT6 Gene

  • Protein details for SEPT6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14141-SEPT6_HUMAN
    Recommended name:
    Septin-6
    Protein Accession:
    Q14141
    Secondary Accessions:
    • Q5JTK0
    • Q969W5
    • Q96A13
    • Q96GR1
    • Q96P86
    • Q96P87

    Protein attributes for SEPT6 Gene

    Size:
    434 amino acids
    Molecular mass:
    49717 Da
    Quaternary structure:
    • Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with cellular membranes, actin filaments and microtubules. GTPase activity is required for filament formation. Filaments are assembled from asymmetrical heterotrimers, composed of SEPT2, SEPT6 and SEPT7 that associate head-to-head to form a hexameric unit. Within the trimer, directly interacts with SEPT2 and SEPT7. Also interacts with SEPT9 and SEPT12. Interaction with SEPT12 alters filament structure. Component of a septin core octomeric complex consisting of SEPT12, SEPT7, SEPT6 and SEPT2 or SEPT4 in the order 12-7-6-2-2-6-7-12 or 12-7-6-4-4-6-7-12 and located in the sperm annulus. Interacts with SOCS7. Interacts with HCV NS5B and with HNRNPA1.
    Miscellaneous:
    • Coordinated expression with SEPT2 and SEPT7.

    Three dimensional structures from OCA and Proteopedia for SEPT6 Gene

    Alternative splice isoforms for SEPT6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPT6 Gene

Post-translational modifications for SEPT6 Gene

  • Ubiquitination at isoforms=2, 3, 435, Lys66, isoforms=2, 3, 4191, Lys273, and Lys420
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for SEPT6

No data available for DME Specific Peptides for SEPT6 Gene

Domains & Families for SEPT6 Gene

Gene Families for SEPT6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SEPT6 Gene

Graphical View of Domain Structure for InterPro Entry

Q14141

UniProtKB/Swiss-Prot:

SEPT6_HUMAN :
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
Family:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
genes like me logo Genes that share domains with SEPT6: view

No data available for Suggested Antigen Peptide Sequences for SEPT6 Gene

Function for SEPT6 Gene

Molecular function for SEPT6 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Involved in cytokinesis. May play a role in HCV RNA replication. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830).

Gene Ontology (GO) - Molecular Function for SEPT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0005525 GTP binding TAS 11809673
genes like me logo Genes that share ontologies with SEPT6: view
genes like me logo Genes that share phenotypes with SEPT6: view

Animal Models for SEPT6 Gene

MGI Knock Outs for SEPT6:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SEPT6
  • Applied Biological Materials Clones for SEPT6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPT6 Gene

Localization for SEPT6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT6 Gene

Cytoplasm. Cytoplasm, cytoskeleton, spindle. Chromosome, centromere, kinetochore. Cleavage furrow. Midbody. Cell projection, cilium, flagellum. Note=In metaphase cells, localized within the microtubule spindle. At the metaphase plate, in close apposition to the kinetochores of the congressed chromosomes. In cells undergoing cytokinesis, localized to the midbody, the ingressing cleavage furrow, and the central spindle. Found in the sperm annulus (PubMed:25588830). {ECO:0000269 PubMed:25588830}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEPT6 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for SEPT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SEPT6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SEPT6 Gene

Pathways & Interactions for SEPT6 Gene

genes like me logo Genes that share pathways with SEPT6: view

Pathways by source for SEPT6 Gene

1 KEGG pathway for SEPT6 Gene

SIGNOR curated interactions for SEPT6 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SEPT6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000910 cytokinesis TAS 11809673
GO:0007049 cell cycle IEA --
GO:0007283 spermatogenesis IEA --
GO:0016032 viral process IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SEPT6: view

Drugs & Compounds for SEPT6 Gene

No Compound Related Data Available

Transcripts for SEPT6 Gene

Unigene Clusters for SEPT6 Gene

Septin 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SEPT6
  • Applied Biological Materials Clones for SEPT6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT6 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c · 11d · 11e · 11f · 11g ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - - - - - - -
SP7: - - -
SP8: - - - - - -
SP9: - - - - - -
SP10: - - - -
SP11: - - - - - - -
SP12: - - - -
SP13: - - - -
SP14: - - -
SP15:
SP16:
SP17:

ExUns: 16a · 16b ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21
SP1: - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - -
SP7: - -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - -
SP16:
SP17:

Relevant External Links for SEPT6 Gene

GeneLoc Exon Structure for
SEPT6
ECgene alternative splicing isoforms for
SEPT6

Expression for SEPT6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEPT6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEPT6 Gene

This gene is overexpressed in Whole Blood (x4.9).

Protein differential expression in normal tissues from HIPED for SEPT6 Gene

This gene is overexpressed in Lymph node (10.0) and CD8 Tcells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SEPT6 Gene



Protein tissue co-expression partners for SEPT6 Gene

SOURCE GeneReport for Unigene cluster for SEPT6 Gene:

Hs.496666

mRNA Expression by UniProt/SwissProt for SEPT6 Gene:

Q14141-SEPT6_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for SEPT6 Gene

  • Nervous system(4.7)
  • Blood(4.6)
  • Bone marrow(4.3)
  • Liver(4.2)
  • Muscle(4.2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with SEPT6: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPT6 Gene

Orthologs for SEPT6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPT6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEPT6 33 34
  • 93.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT6 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT6 33 34
  • 92.01 (n)
chimpanzee
(Pan troglodytes)
Mammalia SEPT6 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept6 33 16 34
  • 91.17 (n)
rat
(Rattus norvegicus)
Mammalia Sept6 33
  • 91.1 (n)
oppossum
(Monodelphis domestica)
Mammalia SEPT6 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT6 33 34
  • 80.99 (n)
lizard
(Anolis carolinensis)
Reptilia SEPT6 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept6 33
  • 76.58 (n)
Str.8205 33
zebrafish
(Danio rerio)
Actinopterygii sept6 33 34
  • 79.86 (n)
wufb77a07 33
fruit fly
(Drosophila melanogaster)
Insecta Sep2 33
  • 68.32 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011532 33
  • 66.83 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-61 33
  • 52.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 71 (a)
OneToMany
Species where no ortholog for SEPT6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SEPT6 Gene

ENSEMBL:
Gene Tree for SEPT6 (if available)
TreeFam:
Gene Tree for SEPT6 (if available)

Paralogs for SEPT6 Gene

Paralogs for SEPT6 Gene

genes like me logo Genes that share paralogs with SEPT6: view

Variants for SEPT6 Gene

Sequence variations from dbSNP and Humsavar for SEPT6 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000014500 -- 119,689,950(+) GGTCT(C/T)GAACT intron-variant
rs1000053348 -- 119,687,670(+) AGCCC(C/T)ACTTA intron-variant
rs1000073965 -- 119,694,387(+) GGAGG(A/G)ACAGT upstream-variant-2KB
rs1000130207 -- 119,637,744(+) GGCAC(C/T)GGGAA intron-variant
rs1000188155 -- 119,654,328(+) CCTAC(A/G)GCCTC intron-variant

Variation tolerance for SEPT6 Gene

Residual Variation Intolerance Score: 67.3% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEPT6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPT6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SEPT6 Gene

Disorders for SEPT6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEPT6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
sexual disorder
  • sexual dysfunction
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
- elite association - COSMIC cancer census association via MalaCards
Search SEPT6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SEPT6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPT6
genes like me logo Genes that share disorders with SEPT6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPT6 Gene

Publications for SEPT6 Gene

  1. Structural analysis of septin 2, 6, and 7 complexes. (PMID: 16914550) Low C … Macara IG (The Journal of biological chemistry 2006) 3 4 22 60
  2. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8590280) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4 60
  3. SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins. (PMID: 25588830) Kuo YC … Kuo PL (Journal of cell science 2015) 3 4 60
  4. Structural insight into filament formation by mammalian septins. (PMID: 17637674) Sirajuddin M … Wittinghofer A (Nature 2007) 3 4 60
  5. Septins regulate actin organization and cell-cycle arrest through nuclear accumulation of NCK mediated by SOCS7. (PMID: 17803907) Kremer BE … Macara IG (Cell 2007) 3 4 60

Products for SEPT6 Gene

  • Addgene plasmids for SEPT6

Sources for SEPT6 Gene

Content
Loading form....