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Aliases for SEPT8 Gene

Aliases for SEPT8 Gene

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

External Ids for SEPT8 Gene

Previous GeneCards Identifiers for SEPT8 Gene

  • GC05M131608
  • GC05M132533
  • GC05M132117
  • GC05M132162
  • GC05M132114
  • GC05M127279
  • GC05M132086

Summaries for SEPT8 Gene

Entrez Gene Summary for SEPT8 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 SEPT8 Gene

SEPT8 (Septin 8) is a Protein Coding gene. Diseases associated with SEPT8 include Sexual Disorder. 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 SEPT8 Gene

  • Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion.

Gene Wiki entry for SEPT8 Gene

Additional gene information for SEPT8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT8 Gene

Genomics for SEPT8 Gene

Regulatory Elements for SEPT8 Gene

Enhancers for SEPT8 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
GH05H132770 1.5 Ensembl ENCODE dbSUPER 42.3 +32.7 32739 7 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 TCF12 ZNF766 GLIS2 GATA2 SEPT8 CCNI2 KIF3A SOWAHA SHROOM1 TH2LCRR IL13 IL4 RNU7-15P RNA5SP192
GH05H132780 0.8 FANTOM5 dbSUPER 40.6 +27.1 27094 0 ZSCAN4 SEPT8 KIF3A SHROOM1 SOWAHA CCNI2 TH2LCRR IL13 RNU7-15P RNA5SP192 IL4
GH05H132767 1 Ensembl ENCODE dbSUPER 27.3 +39.4 39373 1 ZSCAN4 PRDM10 FOXP2 SEPT8 CCNI2 KIF3A SHROOM1 SOWAHA TH2LCRR IL4 RNU7-15P RNA5SP192 ENSG00000230612
GH05H132788 0.8 ENCODE 26.8 +18.3 18307 1 HDAC1 TBP PKNOX1 TBL1XR1 NFRKB TCF12 GATA2 ZBTB11 ZEB2 ZNF592 SEPT8 SOWAHA SHROOM1 CCNI2 KIF3A RNU7-15P RNA5SP192 ENSG00000230612 LEAP2 GC05M132777
GH05H132751 0.8 dbSUPER 26.5 +52.9 52857 5 PTBP1 TBL1XR1 ZNF133 BATF RAD21 ATF7 RUNX3 CREM IKZF2 ZNF362 SEPT8 SOWAHA SHROOM1 ENSG00000230612 IL4 RNU7-15P RNA5SP192 CCNI2 GC05M132776 GC05M132777
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEPT8 on UCSC Golden Path with GeneCards custom track

Genomic Location for SEPT8 Gene

Chromosome:
5
Start:
132,750,817 bp from pter
End:
132,807,241 bp from pter
Size:
56,425 bases
Orientation:
Minus strand

Genomic View for SEPT8 Gene

Genes around SEPT8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT8 Gene

Proteins for SEPT8 Gene

  • Protein details for SEPT8 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 SEPT8 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, SEPT4, SEPT5 and SEPT7 (By similarity).
    SequenceCaution:
    • Sequence=AAG09407.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH01329.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAO13878.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAO13879.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAO13880.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA13193.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SEPT8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPT8 Gene

Post-translational modifications for SEPT8 Gene

  • Ubiquitination at Lys331
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SEPT8 Gene

Domains & Families for SEPT8 Gene

Gene Families for SEPT8 Gene

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

Protein Domains for SEPT8 Gene

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 SEPT8: view

No data available for Suggested Antigen Peptide Sequences for SEPT8 Gene

Function for SEPT8 Gene

Molecular function for SEPT8 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion.

Gene Ontology (GO) - Molecular Function for SEPT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17685441
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with SEPT8: view
genes like me logo Genes that share phenotypes with SEPT8: view

Animal Models for SEPT8 Gene

MGI Knock Outs for SEPT8:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPT8 Gene

Localization for SEPT8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT8 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=In platelets, found in areas surrounding alpha-granules. {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 SEPT8 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (1)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEPT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with SEPT8: view

Pathways & Interactions for SEPT8 Gene

genes like me logo Genes that share pathways with SEPT8: view

Pathways by source for SEPT8 Gene

1 KEGG pathway for SEPT8 Gene

Gene Ontology (GO) - Biological Process for SEPT8 Gene

None

No data available for SIGNOR curated interactions for SEPT8 Gene

Drugs & Compounds for SEPT8 Gene

No Compound Related Data Available

Transcripts for SEPT8 Gene

Unigene Clusters for SEPT8 Gene

Septin 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT8 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a ·
SP1: - - - - - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - -
SP6: - - - - - -
SP7: - - - - - - -
SP8: - - -
SP9: -
SP10:
SP11: -

ExUns: 13b ^ 14
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -

Relevant External Links for SEPT8 Gene

GeneLoc Exon Structure for
SEPT8
ECgene alternative splicing isoforms for
SEPT8

Expression for SEPT8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEPT8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEPT8 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x7.8) and Brain - Substantia nigra (x4.1).

Protein differential expression in normal tissues from HIPED for SEPT8 Gene

This gene is overexpressed in Spinal cord (18.9), Frontal cortex (14.8), Brain (10.1), and Retina (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SEPT8 Gene



Protein tissue co-expression partners for SEPT8 Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for SEPT8 Gene:

Hs.522057

mRNA Expression by UniProt/SwissProt for SEPT8 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 SEPT8 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 SEPT8: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPT8 Gene

Orthologs for SEPT8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEPT8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPT8 33 34
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia SEPT8 33 34
  • 92.96 (n)
dog
(Canis familiaris)
Mammalia SEPT8 33 34
  • 92.03 (n)
mouse
(Mus musculus)
Mammalia Sept8 33 16 34
  • 91.67 (n)
rat
(Rattus norvegicus)
Mammalia Sept8 33
  • 91.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT8 34
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEPT8 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT8 33 34
  • 83.29 (n)
lizard
(Anolis carolinensis)
Reptilia SEPT8 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept8 33
  • 77.91 (n)
Str.8899 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3931 33
zebrafish
(Danio rerio)
Actinopterygii sept8b 34
  • 81 (a)
OneToMany
sept8a 33 34
  • 78.89 (n)
wufb22a03 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9422 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 68 (a)
OneToMany
Species where no ortholog for SEPT8 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 SEPT8 Gene

ENSEMBL:
Gene Tree for SEPT8 (if available)
TreeFam:
Gene Tree for SEPT8 (if available)

Paralogs for SEPT8 Gene

Variants for SEPT8 Gene

Sequence variations from dbSNP and Humsavar for SEPT8 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000004347 -- 132,760,277(+) AACCA(C/T)CACGG intron-variant, nc-transcript-variant
rs1000035435 -- 132,760,516(+) GAGAA(G/T)GAGAG intron-variant, nc-transcript-variant
rs1000577754 -- 132,765,031(+) ACCAT(A/G)GGATA intron-variant
rs1000677011 -- 132,768,319(+) GCATG(C/T)ACACA intron-variant
rs1000753633 -- 132,772,475(+) TCATA(-/TT)TTCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEPT8 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 SEPT8 Gene

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

Relevant External Links for SEPT8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPT8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPT8 Gene

Disorders for SEPT8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SEPT8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
sexual disorder
  • sexual dysfunction
- elite association - COSMIC cancer census association via MalaCards
Search SEPT8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SEPT8

Genetic Association Database (GAD)
SEPT8
Human Genome Epidemiology (HuGE) Navigator
SEPT8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPT8
genes like me logo Genes that share disorders with SEPT8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPT8 Gene

Publications for SEPT8 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 22 60
  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 22 60
  3. Human septin-septin interaction: CDCrel-1 partners with KIAA0202. (PMID: 12023038) Bläser S … Zieger B (FEBS letters 2002) 3 4 22 60
  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 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for SEPT8 Gene

Sources for SEPT8 Gene

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