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Aliases for SEPT8 Gene

Aliases for SEPT8 Gene

  • Septin 8 2 3 5
  • 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 SEPT6.

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

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

Genomics for SEPT8 Gene

Regulatory Elements for SEPT8 Gene

Promoters for SEPT8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

Proteomics data for SEPT8 Gene at MOPED

Post-translational modifications for SEPT8 Gene

  • Ubiquitination at Lys 331
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEPT8 Gene

Domains & Families for SEPT8 Gene

Gene Families for SEPT8 Gene

Protein Domains for SEPT8 Gene

Graphical View of Domain Structure for InterPro Entry

Q92599

UniProtKB/Swiss-Prot:

SEPT8_HUMAN :
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Septin GTPase family.
Domain:
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
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
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

  • Taconic Biosciences Mouse Models for SEPT8

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for SEPT8 Gene COMPARTMENTS Subcellular localization image for SEPT8 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2

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

mRNA/cDNA for SEPT8 Gene

(11) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SEPT8 Gene

Septin 8:
Representative Sequences:

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 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, MOPED, and MaxQB for SEPT8 Gene



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.
genes like me logo Genes that share expression patterns with SEPT8: view

Protein tissue co-expression partners for SEPT8 Gene

- Elite partner

In Situ Assay Products

Orthologs for SEPT8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEPT8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEPT8 35
  • 92.96 (n)
  • 99.07 (a)
SEPT8 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT8 35
  • 92.03 (n)
  • 98.14 (a)
SEPT8 36
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept8 35
  • 91.67 (n)
  • 98.36 (a)
Sept8 16
Sept8 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEPT8 35
  • 99.45 (n)
  • 99.77 (a)
SEPT8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sept8 35
  • 91.45 (n)
  • 98.14 (a)
oppossum
(Monodelphis domestica)
Mammalia SEPT8 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT8 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT8 35
  • 83.29 (n)
  • 92.51 (a)
SEPT8 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPT8 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept8 35
  • 77.91 (n)
  • 88.99 (a)
Str.8899 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.3931 35
zebrafish
(Danio rerio)
Actinopterygii sept8a 35
  • 78.89 (n)
  • 88.1 (a)
wufb22a03 35
sept8a 36
  • 88 (a)
OneToMany
sept8b 36
  • 81 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9422 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 68 (a)
OneToMany
Species with no ortholog for SEPT8:
  • 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

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

Variants for SEPT8 Gene

Sequence variations from dbSNP and Humsavar for SEPT8 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs39588 -- 132,763,443(-) TCATT(C/G)TCAGC intron-variant
rs39855 -- 132,771,703(-) TGCTC(C/T)GGCTA intron-variant
rs30506 -- 132,764,780(-) GTCCC(A/G)GGAGG intron-variant
rs30507 -- 132,764,307(-) ACCTA(C/T)GACCT reference, synonymous-codon
rs30508 -- 132,763,546(-) TCTGT(C/T)CCTCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv882918 CNV Loss 21882294
nsv528687 CNV Gain 19592680
esv28018 CNV Gain 19812545

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

HapMap Linkage Disequilibrium report
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
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. 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 Res. 1996) 2 3 4 67
  2. Septin expression in proliferative retinal membranes. (PMID: 17625225) Xin X. … Meyer P. (J. Histochem. Cytochem. 2007) 3 23
  3. Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5. (PMID: 16767699) BlAoser S. … Zieger B. (J. Pathol. 2006) 3 23
  4. The novel human platelet septin SEPT8 is an interaction partner of SEPT4. (PMID: 15116257) Blaeser S. … Zieger B. (Thromb. Haemost. 2004) 3 23
  5. Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202). (PMID: 12909369) Blaeser S. … Zieger B. (Gene 2003) 3 23

Products for SEPT8 Gene

Sources for SEPT8 Gene

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