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Aliases for SEPT3 Gene

Aliases for SEPT3 Gene

  • Septin 3 2 3 5
  • SEP3 3 4
  • Neuronal-Specific Septin-3 3
  • BK250D10.3 3

External Ids for SEPT3 Gene

Previous HGNC Symbols for SEPT3 Gene

  • SEP3

Previous GeneCards Identifiers for SEPT3 Gene

  • GC22P038987
  • GC22P040616
  • GC22P040697
  • GC22P042372
  • GC22P025339

Summaries for SEPT3 Gene

Entrez Gene Summary for SEPT3 Gene

  • This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for SEPT3 Gene

SEPT3 (Septin 3) is a Protein Coding gene. Diseases associated with SEPT3 include Teratocarcinoma and Sexual Disorder. Among its related pathways are Bacterial invasion of epithelial cells. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is SEPT9.

UniProtKB/Swiss-Prot for SEPT3 Gene

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

Gene Wiki entry for SEPT3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT3 Gene

Genomics for SEPT3 Gene

Regulatory Elements for SEPT3 Gene

Enhancers for SEPT3 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
GH22G042021 1.1 Ensembl ENCODE 12.3 +46.0 46020 2.4 KLF1 ZIC2 ZNF507 ZFHX2 FOXK2 EGR1 POLR2A EED ZSCAN29 NFE2 SMDT1 CYP2D6 WBP2NL SLC25A5P1 SEPT3 NAGA FAM109B TCF20 LINC00634 NDUFA6-AS1
GH22G042031 0.8 ENCODE 12.1 +55.2 55160 0.2 TBP TBL1XR1 BMI1 RELB ETV6 IKZF2 CREM JUNB GATAD2B TBX21 SEPT3 NAGA FAM109B PIR41640 GC22P042034 SLC25A5P1
GH22G041556 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.7 -418.7 -418730 2.3 CTCF PKNOX1 RAD21 RARA YY1 ZNF121 HIC1 GLIS2 PATZ1 SMC3 POLR3H SEPT3 CSDC2
GH22G042424 0.8 dbSUPER 5.5 +450.2 450228 4.5 CTCF ZNF146 SUZ12 ZIC2 RAD21 ZKSCAN1 ZNF664 ZFHX2 GATA3 FOXK2 NDUFA6 PHF5A XRCC6 RN7SKP80 RPL5P34 SERHL SEPT3 NDUFA6-AS1 TSPO ENSG00000273424
GH22G042340 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.1 +365.1 365055 1.4 PKNOX1 INSM2 KLF17 FEZF1 RBBP5 ZIC2 BCL11B ZNF324 HIC1 ZNF121 LINC01315 SERHL NAGA SEPT3 TCF20 GC22P042320
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEPT3 on UCSC Golden Path with GeneCards custom track

Promoters for SEPT3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146698 528 401 USF1 ZIC2 HIC1 ZFHX2 ZBTB48 PATZ1 SCRT2 ZBTB20 EZH2 EGR2

Genomic Location for SEPT3 Gene

Chromosome:
22
Start:
41,976,272 bp from pter
End:
41,998,221 bp from pter
Size:
21,950 bases
Orientation:
Plus strand

Genomic View for SEPT3 Gene

Genes around SEPT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT3 Gene

Proteins for SEPT3 Gene

  • Protein details for SEPT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UH03-SEPT3_HUMAN
    Recommended name:
    Neuronal-specific septin-3
    Protein Accession:
    Q9UH03
    Secondary Accessions:
    • B1AHR0
    • Q2NKJ7
    • Q59GF7
    • Q6IBZ6
    • Q8N3P3
    • Q9HD35

    Protein attributes for SEPT3 Gene

    Size:
    358 amino acids
    Molecular mass:
    40704 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).
    SequenceCaution:
    • Sequence=AAG00517.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAG00518.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAG00519.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI11780.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD38797.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAG30458.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEPT3 Gene

    Alternative splice isoforms for SEPT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPT3 Gene

Post-translational modifications for SEPT3 Gene

  • Phosphorylated by PKG on serine residues. Phosphorylated by PKG on Ser-91 (By similarity).
  • Ubiquitination at Lys226
  • Modification sites at PhosphoSitePlus

Other Protein References for SEPT3 Gene

No data available for DME Specific Peptides for SEPT3 Gene

Domains & Families for SEPT3 Gene

Gene Families for SEPT3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UH03

UniProtKB/Swiss-Prot:

SEPT3_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 SEPT3: view

No data available for Suggested Antigen Peptide Sequences for SEPT3 Gene

Function for SEPT3 Gene

Molecular function for SEPT3 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).
UniProtKB/Swiss-Prot Induction:
Up-regulated during neuronal differentiation.

Gene Ontology (GO) - Molecular Function for SEPT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
GO:0005525 GTP binding IEA --
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with SEPT3: view
genes like me logo Genes that share phenotypes with SEPT3: view

Animal Models for SEPT3 Gene

MGI Knock Outs for SEPT3:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPT3 Gene

Localization for SEPT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT3 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell junction, synapse.

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 SEPT3 gene
Compartment Confidence
cytoskeleton 4
plasma membrane 3
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for SEPT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with SEPT3: view

Pathways & Interactions for SEPT3 Gene

genes like me logo Genes that share pathways with SEPT3: view

Pathways by source for SEPT3 Gene

1 KEGG pathway for SEPT3 Gene

Gene Ontology (GO) - Biological Process for SEPT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with SEPT3: view

No data available for SIGNOR curated interactions for SEPT3 Gene

Drugs & Compounds for SEPT3 Gene

(1) Drugs for SEPT3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SEPT3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SEPT3: view

Transcripts for SEPT3 Gene

Unigene Clusters for SEPT3 Gene

Septin 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP1: -
SP2: - -
SP3: - - - - - - -
SP4: - - - -
SP5: -
SP6:

Relevant External Links for SEPT3 Gene

GeneLoc Exon Structure for
SEPT3
ECgene alternative splicing isoforms for
SEPT3

Expression for SEPT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEPT3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEPT3 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x7.0), Brain - Frontal Cortex (BA9) (x6.2), Brain - Cortex (x5.8), Brain - Amygdala (x5.5), Brain - Hippocampus (x5.1), and Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for SEPT3 Gene

This gene is overexpressed in Frontal cortex (29.1), Fetal Brain (21.8), and Brain (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SEPT3 Gene



Protein tissue co-expression partners for SEPT3 Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for SEPT3 Gene:

Hs.120483

mRNA Expression by UniProt/SwissProt for SEPT3 Gene:

Q9UH03-SEPT3_HUMAN
Tissue specificity: Brain-specific.

Evidence on tissue expression from TISSUES for SEPT3 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with SEPT3: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPT3 Gene

Orthologs for SEPT3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEPT3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPT3 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia SEPT3 34 35
  • 95.07 (n)
cow
(Bos Taurus)
Mammalia SEPT3 34 35
  • 94.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT3 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept3 34 16 35
  • 93.11 (n)
rat
(Rattus norvegicus)
Mammalia Sept3 34
  • 92.55 (n)
chicken
(Gallus gallus)
Aves SEPT3 34 35
  • 84.99 (n)
lizard
(Anolis carolinensis)
Reptilia SEPT3 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept3 34
  • 80.22 (n)
zebrafish
(Danio rerio)
Actinopterygii sept3 34 35
  • 74.1 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC3 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8439 35
  • 54 (a)
OneToMany
Species where no ortholog for SEPT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for SEPT3 Gene

ENSEMBL:
Gene Tree for SEPT3 (if available)
TreeFam:
Gene Tree for SEPT3 (if available)

Paralogs for SEPT3 Gene

Paralogs for SEPT3 Gene

genes like me logo Genes that share paralogs with SEPT3: view

Variants for SEPT3 Gene

Sequence variations from dbSNP and Humsavar for SEPT3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000082910 -- 41,974,234(+) CCCGG(G/T)ATTGT intron-variant
rs1000083081 -- 41,984,307(+) TTTTC(G/T)AATAT intron-variant
rs1000183224 -- 41,980,484(+) ACAGT(C/T)TTAGT intron-variant
rs1000462505 -- 41,987,363(+) ATTCA(C/T)GTTGA intron-variant
rs1000654027 -- 41,972,060(+) GTTCC(C/T)ACCTA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SEPT3 Gene

Variant ID Type Subtype PubMed ID
nsv1057208 CNV gain 25217958

Variation tolerance for SEPT3 Gene

Residual Variation Intolerance Score: 47.5% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEPT3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPT3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPT3 Gene

Disorders for SEPT3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEPT3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
teratocarcinoma
  • mixed embryonal carcinoma and teratoma
sexual disorder
  • sexual dysfunction
- elite association - COSMIC cancer census association via MalaCards
Search SEPT3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SEPT3

Human Genome Epidemiology (HuGE) Navigator
SEPT3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPT3
genes like me logo Genes that share disorders with SEPT3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPT3 Gene

Publications for SEPT3 Gene

  1. Human septin 3 on chromosome 22q13.2 is upregulated by neuronal differentiation. (PMID: 11322766) Methner A. … Lewerenz J. (Biochem. Biophys. Res. Commun. 2001) 3 4 22 64
  2. The structure and properties of septin 3: a possible missing link in septin filament formation. (PMID: 23163726) Macedo J.N. … Araujo A.P. (Biochem. J. 2013) 3 4 64
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  4. Septin 3 gene polymorphism in Alzheimer's disease. (PMID: 15200238) Takehashi M. … Ueda K. (Gene Expr. 2004) 3 22 64
  5. Phosphorylation of septin 3 on Ser-91 by cGMP-dependent protein kinase-I in nerve terminals. (PMID: 15107017) Xue J. … Robinson P.J. (Biochem. J. 2004) 3 22 64

Products for SEPT3 Gene

Sources for SEPT3 Gene

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