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 en... See more...

Aliases for SEPTIN6 Gene

Aliases for SEPTIN6 Gene

  • Septin 6 2 3 5
  • Septin-6 3 4
  • SEPT6 3 4
  • SEP2 3 4
  • Septin 2 3
  • KIAA0128 4
  • SEPT2 3

External Ids for SEPTIN6 Gene

Previous HGNC Symbols for SEPTIN6 Gene

  • SEPT6

Summaries for SEPTIN6 Gene

Entrez Gene Summary for SEPTIN6 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 SEPTIN6 Gene

SEPTIN6 (Septin 6) is a Protein Coding gene. Diseases associated with SEPTIN6 include Amyotrophic Neuralgia and Sexual Disorder. Among its related pathways are Bacterial invasion of epithelial cells and Shigellosis. An important paralog of this gene is SEPTIN11.

UniProtKB/Swiss-Prot Summary for SEPTIN6 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 SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 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 SEPTIN6 Gene

Additional gene information for SEPTIN6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPTIN6 Gene

Genomics for SEPTIN6 Gene

GeneHancer (GH) Regulatory Elements for SEPTIN6 Gene

Promoters and enhancers for SEPTIN6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ119674 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 518.8 +8.7 8659 20.2 FOXK2 HNRNPK ZBTB40 EP300 CTCF ZSCAN5C SIN3A NRF1 POLR2G SP1 SEPTIN6 NKAPP1 UPF3B NKRF MIR766 CXorf56 LINC01402 EEF1A1P30 SLC25A5-AS1 CUL4B
GH0XJ119698 Enhancer 0.6 Ensembl 14.3 -5.7 -5658 0.5 CTCF REST RAD21 TRIM22 ZNF341 SMC3 ZNF654 ZFP37 HNF4A BCL6B SEPTIN6 ENSG00000279601 lnc-SOWAHD-1 lnc-SEPT6-1
GH0XJ119695 Enhancer 0.6 Ensembl ENCODE 9.8 -2.3 -2331 0.6 MEF2B EBF1 EED ZSCAN4 SEPTIN6 ENSG00000279601 lnc-SOWAHD-1 lnc-SEPT6-1
GH0XJ119753 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas 2.3 -64.0 -64040 7.6 CTCF SIN3A USF1 SP1 EP300 ZIC2 KDM6A ZNF423 ZBTB26 RFX1 SOWAHD RNF113A NDUFA1 MIR766 UPF3B SEPTIN6 ZBTB33 HSALNG0139786 piR-50406
GH0XJ119666 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.3 +26.1 26076 2.2 USF1 ZIC2 TRIM28 ZNF341 ZBTB17 ZNF263 NBN ZFHX2 ZNF335 IKZF3 MIR766 RF00017-8654 SEPTIN6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPTIN6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPTIN6

Genomic Locations for SEPTIN6 Gene

Genomic Locations for SEPTIN6 Gene
chrX:119,615,724-119,693,370
(GRCh38/hg38)
Size:
77,647 bases
Orientation:
Minus strand
chrX:118,749,687-118,827,333
(GRCh37/hg19)
Size:
77,647 bases
Orientation:
Minus strand

Genomic View for SEPTIN6 Gene

Genes around SEPTIN6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPTIN6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPTIN6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPTIN6 Gene

Proteins for SEPTIN6 Gene

  • Protein details for SEPTIN6 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 SEPTIN6 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 SEPTIN2, SEPTIN6 and SEPTIN7 that associate head-to-head to form a hexameric unit. Within the trimer, directly interacts with SEPTIN2 and SEPTIN7. Also interacts with SEPTIN9 and SEPTIN12. Interaction with SEPTIN12 alters filament structure. Component of a septin core octomeric complex consisting of SEPTIN12, SEPTIN7, SEPTIN6 and SEPTIN2 or SEPTIN4 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 HNRNPA1.
    • (Microbial infection) Interacts with HCV NS5B.
    Miscellaneous:
    • Coordinated expression with SEPTIN2 and SEPTIN7.

    Three dimensional structures from OCA and Proteopedia for SEPTIN6 Gene

    Alternative splice isoforms for SEPTIN6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPTIN6 Gene

Post-translational modifications for SEPTIN6 Gene

  • Ubiquitination at Lys35, Lys66, Lys191, Lys273, Lys400, and Lys420
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEPTIN6 Gene

Domains & Families for SEPTIN6 Gene

Gene Families for SEPTIN6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SEPTIN6 Gene

Blocks:
  • Cell division/GTP binding protein
InterPro:
ProtoNet:

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 SEPTIN6: view

No data available for Suggested Antigen Peptide Sequences for SEPTIN6 Gene

Function for SEPTIN6 Gene

Molecular function for SEPTIN6 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 SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 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 SEPTIN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA 21873635
GO:0005515 protein binding IPI 16189514
GO:0005525 GTP binding TAS 11809673
genes like me logo Genes that share ontologies with SEPTIN6: view
genes like me logo Genes that share phenotypes with SEPTIN6: view

Animal Models for SEPTIN6 Gene

MGI Knock Outs for SEPTIN6:

Animal Model Products

CRISPR Products

miRNA for SEPTIN6 Gene

miRTarBase miRNAs that target SEPTIN6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPTIN6 Gene

Localization for SEPTIN6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPTIN6 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 SEPTIN6 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SEPTIN6 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 SEPTIN6: view

Pathways & Interactions for SEPTIN6 Gene

PathCards logo

SuperPathways for SEPTIN6 Gene

genes like me logo Genes that share pathways with SEPTIN6: view

Pathways by source for SEPTIN6 Gene

2 KEGG pathways for SEPTIN6 Gene

SIGNOR curated interactions for SEPTIN6 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SEPTIN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic 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 SEPTIN6: view

Drugs & Compounds for SEPTIN6 Gene

No Compound Related Data Available

Transcripts for SEPTIN6 Gene

mRNA/cDNA for SEPTIN6 Gene

4 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN6

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEPTIN6 Gene

No ASD Table

Relevant External Links for SEPTIN6 Gene

GeneLoc Exon Structure for
SEPTIN6

Expression for SEPTIN6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPTIN6

SOURCE GeneReport for Unigene cluster for SEPTIN6 Gene:

Hs.496666

mRNA Expression by UniProt/SwissProt for SEPTIN6 Gene:

Q14141-SEPT6_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for SEPTIN6 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 SEPTIN6: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPTIN6 Gene

Orthologs for SEPTIN6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPTIN6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEPT6 31 30
  • 93.83 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT6 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT6 31 30
  • 92.01 (n)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEPT6 31
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept6 31 30
  • 91.17 (n)
OneToOne
Septin6 17
rat
(Rattus norvegicus)
Mammalia Sept6 30
  • 91.1 (n)
oppossum
(Monodelphis domestica)
Mammalia SEPT6 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT6 31 30
  • 80.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPT6 31
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept6 30
  • 76.58 (n)
Str.8205 30
zebrafish
(Danio rerio)
Actinopterygii sept6 31 30
  • 79.86 (n)
OneToOne
wufb77a07 30
fruit fly
(Drosophila melanogaster)
Insecta Sep2 30
  • 68.32 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011532 30
  • 66.83 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-61 30
  • 52.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 71 (a)
OneToMany
Species where no ortholog for SEPTIN6 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 SEPTIN6 Gene

ENSEMBL:
Gene Tree for SEPTIN6 (if available)
TreeFam:
Gene Tree for SEPTIN6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPTIN6: view image

Paralogs for SEPTIN6 Gene

genes like me logo Genes that share paralogs with SEPTIN6: view

Variants for SEPTIN6 Gene

Additional dbSNP identifiers (rs#s) for SEPTIN6 Gene

Variation tolerance for SEPTIN6 Gene

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

Additional Variant Information for SEPTIN6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPTIN6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for SEPTIN6 Gene

Disorders for SEPTIN6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SEPTIN6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
amyotrophic neuralgia
  • neuralgic amyotrophy
sexual disorder
  • sexual dysfunction
brachial plexus neuropathy
  • brachial plexopathy
impotence
  • erectile dysfunction
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEPTIN6

genes like me logo Genes that share disorders with SEPTIN6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPTIN6 Gene

Publications for SEPTIN6 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 23 54
  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 54
  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 54
  4. Septins regulate bacterial entry into host cells. (PMID: 19145258) Mostowy S … Cossart P (PloS one 2009) 3 4 54
  5. An RNA-binding protein, hnRNP A1, and a scaffold protein, septin 6, facilitate hepatitis C virus replication. (PMID: 17229681) Kim CS … Jang SK (Journal of virology 2007) 3 4 54

Products for SEPTIN6 Gene

Sources for SEPTIN6 Gene