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. Multiple alte... See more...

Aliases for SEPTIN8 Gene

Aliases for SEPTIN8 Gene

  • Septin 8 2 3 5
  • Septin-8 3 4
  • SEPT8 3 4
  • KIAA0202 4
  • SEP2 3

External Ids for SEPTIN8 Gene

Previous HGNC Symbols for SEPTIN8 Gene

  • SEPT8

Summaries for SEPTIN8 Gene

Entrez Gene Summary for SEPTIN8 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. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

GeneCards Summary for SEPTIN8 Gene

SEPTIN8 (Septin 8) is a Protein Coding gene. Diseases associated with SEPTIN8 include Sexual Disorder and Impotence. 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 SEPTIN8 Gene

  • Filament-forming cytoskeletal GTPase (By similarity). May play a role in platelet secretion (PubMed:15116257). Seems to participate in the process of SNARE complex formation in synaptic vesicles (By similarity).
  • [Isoform 4]: Stabilizes BACE1 protein levels and promotes the sorting and accumulation of BACE1 to the recycling or endosomal compartments, modulating the beta-amyloidogenic processing of APP.

Gene Wiki entry for SEPTIN8 Gene

Additional gene information for SEPTIN8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPTIN8 Gene

Genomics for SEPTIN8 Gene

GeneHancer (GH) Regulatory Elements for SEPTIN8 Gene

Promoters and enhancers for SEPTIN8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPTIN8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPTIN8

Genomic Locations for SEPTIN8 Gene

Genomic Locations for SEPTIN8 Gene
chr5:132,750,817-132,807,241
(GRCh38/hg38)
Size:
56,425 bases
Orientation:
Minus strand
chr5:132,086,509-132,142,933
(GRCh37/hg19)
Size:
56,425 bases
Orientation:
Minus strand

Genomic View for SEPTIN8 Gene

Genes around SEPTIN8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPTIN8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPTIN8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPTIN8 Gene

Proteins for SEPTIN8 Gene

  • Protein details for SEPTIN8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92599-SEPT8_HUMAN
    Recommended name:
    Septin-8
    Protein Accession:
    Q92599
    Secondary Accessions:
    • A6NC65
    • A6NKP6
    • F6W7K9
    • Q8IX36
    • Q8IX37
    • Q9BVB3

    Protein attributes for SEPTIN8 Gene

    Size:
    483 amino acids
    Molecular mass:
    55756 Da
    Quaternary structure:
    • 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 CDK14 (PubMed:12098780). Interacts with SEPTIN5 (PubMed:12909369). Interacts with SEPTIN7 (By similarity). Interacts with SEPTIN4 (PubMed:15116257). Interacts with VAMP2; the interaction inhibits interaction of VAMP2 with SYP (By similarity). Interacts with STX1A (By similarity).
    Miscellaneous:
    • [Isoform 2]: KIAA0202a differs from KIAA0202c at the level of the 3'-UTR.
    SequenceCaution:
    • Sequence=AAG09407.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH01329.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAO13878.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAO13879.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAO13880.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA13193.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SEPTIN8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPTIN8 Gene

Post-translational modifications for SEPTIN8 Gene

  • Ubiquitination at Lys331
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEPTIN8 Gene

Domains & Families for SEPTIN8 Gene

Gene Families for SEPTIN8 Gene

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

Protein Domains for SEPTIN8 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q92599

UniProtKB/Swiss-Prot:

SEPT8_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 SEPTIN8: view

No data available for Suggested Antigen Peptide Sequences for SEPTIN8 Gene

Function for SEPTIN8 Gene

Molecular function for SEPTIN8 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase (By similarity). May play a role in platelet secretion (PubMed:15116257). Seems to participate in the process of SNARE complex formation in synaptic vesicles (By similarity).
UniProtKB/Swiss-Prot Function:
[Isoform 4]: Stabilizes BACE1 protein levels and promotes the sorting and accumulation of BACE1 to the recycling or endosomal compartments, modulating the beta-amyloidogenic processing of APP.

Phenotypes From GWAS Catalog for SEPTIN8 Gene

Gene Ontology (GO) - Molecular Function for SEPTIN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA 21873635
GO:0005515 protein binding IPI 15214843
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with SEPTIN8: view
genes like me logo Genes that share phenotypes with SEPTIN8: view

Animal Models for SEPTIN8 Gene

MGI Knock Outs for SEPTIN8:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPTIN8 Gene

Localization for SEPTIN8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPTIN8 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell junction, synapse. Cell projection, axon. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Cell junction, synapse, presynapse. Note=Expressed in axons of immature neurons, localizes to synapses in mature neurons (By similarity). In platelets, found in areas surrounding alpha-granules (PubMed:15116257). {ECO:0000250 UniProtKB:B0BNF1, ECO:0000269 PubMed:15116257}.

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 SEPTIN8 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEPTIN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005940 septin ring IBA 21873635
GO:0015630 microtubule cytoskeleton IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SEPTIN8: view

Pathways & Interactions for SEPTIN8 Gene

PathCards logo

SuperPathways for SEPTIN8 Gene

genes like me logo Genes that share pathways with SEPTIN8: view

Pathways by source for SEPTIN8 Gene

2 KEGG pathways for SEPTIN8 Gene

Gene Ontology (GO) - Biological Process for SEPTIN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035542 regulation of SNARE complex assembly ISS --
GO:0061640 cytoskeleton-dependent cytokinesis IBA 21873635
genes like me logo Genes that share ontologies with SEPTIN8: view

No data available for SIGNOR curated interactions for SEPTIN8 Gene

Drugs & Compounds for SEPTIN8 Gene

No Compound Related Data Available

Transcripts for SEPTIN8 Gene

mRNA/cDNA for SEPTIN8 Gene

6 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
16 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 SEPTIN8

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEPTIN8 Gene

No ASD Table

Relevant External Links for SEPTIN8 Gene

GeneLoc Exon Structure for
SEPTIN8

Expression for SEPTIN8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPTIN8

SOURCE GeneReport for Unigene cluster for SEPTIN8 Gene:

Hs.522057

mRNA Expression by UniProt/SwissProt for SEPTIN8 Gene:

Q92599-SEPT8_HUMAN
Tissue specificity: Widely expressed, including in brain, heart and platelets; most abundant in aorta. Isoform 2 is expressed at low levels in specific brain areas, such as occipital pole, frontal lobe, temporal lobe and putamen. Isoform 1 and 3 are highly expressed in specific brain areas, such as occipital pole, frontal lobe, temporal lobe and putamen. Isoform 2 is highly expressed in prostate, testis and ovary. Isoform 1 and isoform 3 are expressed at low levels in prostate, testis and ovary.

Evidence on tissue expression from TISSUES for SEPTIN8 Gene

  • Nervous system(4.9)
  • Bone marrow(4.2)
  • Liver(4.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with SEPTIN8: view

Primer Products

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 SEPTIN8 Gene

Orthologs for SEPTIN8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEPTIN8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPT8 31 30
  • 99.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SEPT8 31 30
  • 92.96 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT8 31 30
  • 92.03 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sept8 31 30
  • 91.67 (n)
OneToOne
Septin8 17
rat
(Rattus norvegicus)
Mammalia Sept8 30
  • 91.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT8 31
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEPT8 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT8 31 30
  • 83.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPT8 31
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept8 30
  • 77.91 (n)
Str.8899 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.3931 30
zebrafish
(Danio rerio)
Actinopterygii sept8b 31
  • 81 (a)
OneToMany
sept8a 31 30
  • 78.89 (n)
OneToMany
wufb22a03 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9422 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 68 (a)
OneToMany
Species where no ortholog for SEPTIN8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SEPTIN8 Gene

ENSEMBL:
Gene Tree for SEPTIN8 (if available)
TreeFam:
Gene Tree for SEPTIN8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPTIN8: view image

Paralogs for SEPTIN8 Gene

genes like me logo Genes that share paralogs with SEPTIN8: view

Variants for SEPTIN8 Gene

Additional dbSNP identifiers (rs#s) for SEPTIN8 Gene

Structural Variations from Database of Genomic Variants (DGV) for SEPTIN8 Gene

Variant ID Type Subtype PubMed ID
esv28018 CNV gain 19812545
esv3606809 CNV gain 21293372
esv3890740 CNV loss 25118596
nsv1144120 CNV deletion 24896259
nsv528687 CNV gain 19592680
nsv950394 CNV deletion 24416366

Variation tolerance for SEPTIN8 Gene

Residual Variation Intolerance Score: 9.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEPTIN8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPTIN8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPTIN8 Gene

Disorders for SEPTIN8 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SEPTIN8 Gene - From: DISEASES

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

Additional Disease Information for SEPTIN8

genes like me logo Genes that share disorders with SEPTIN8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPTIN8 Gene

Publications for SEPTIN8 Gene

  1. The novel human platelet septin SEPT8 is an interaction partner of SEPT4. (PMID: 15116257) Bläser S … Zieger B (Thrombosis and haemostasis 2004) 3 4 23 54
  2. Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202). (PMID: 12909369) Bläser S … Zieger B (Gene 2003) 3 4 23 54
  3. Human septin-septin interaction: CDCrel-1 partners with KIAA0202. (PMID: 12023038) Bläser S … Zieger B (FEBS letters 2002) 3 4 23 54
  4. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 54
  5. SEPT8 modulates β-amyloidogenic processing of APP by affecting the sorting and accumulation of BACE1. (PMID: 27084579) Kurkinen KM … Hiltunen M (Journal of cell science 2016) 3 4 54

Products for SEPTIN8 Gene

Sources for SEPTIN8 Gene