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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. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for SEPT3 Gene

Promoters and enhancers for SEPT3 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
GH22I041976 Promoter 1.5 EPDnew Ensembl 550.8 +0.5 529 0.4 USF1 ZBTB6 ZNF449 BACH1 ZIC2 HIC1 ZNF335 ZFHX2 POLR2A ZBTB48 SEPT3 ENSG00000224883
GH22I042021 Enhancer 0.8 Ensembl ENCODE 12.3 +46.0 46019 2.4 ELF1 ZIC2 ZNF507 FOXK2 GLIS1 IKZF1 GABPB1 NFE2 IKZF2 SPI1 SMDT1 CYP2D6 WBP2NL SLC25A5P1 SEPT3 NAGA FAM109B TCF20 LINC00634 NDUFA6-AS1
GH22I042031 Enhancer 0.8 ENCODE 12.2 +55.2 55160 0.2 BACH1 BMI1 BATF IRF4 RELA POLR2A NFATC1 ATF7 ETV6 BCLAF1 SEPT3 NAGA FAM109B PIR41640 GC22P042034 SLC25A5P1 WBP2NL
GH22I041556 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 3.7 -418.7 -418729 2.3 RXRA TEAD1 NFYC REST NR2F2 RARA YY1 ZNF121 JUND ATF3 POLR3H SEPT3 CSDC2 LOC105373044 GC22M042641
GH22I042424 Enhancer 0.7 dbSUPER 5.5 +450.2 450228 4.5 ZIC2 ZFHX2 ZNF366 ZNF548 PRDM10 EGR2 ZBTB20 BHLHE40 CBFA2T3 ZNF398 NDUFA6 PHF5A XRCC6 RN7SKP80 RPL5P34 SERHL SEPT3 NDUFA6-AS1 TSPO ENSG00000273424
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SEPT3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEPT3 gene promoter:

Genomic Locations for SEPT3 Gene

Genomic Locations for SEPT3 Gene
chr22:41,976,272-41,998,221
(GRCh38/hg38)
Size:
21,950 bases
Orientation:
Plus strand
chr22:42,372,276-42,394,225
(GRCh37/hg19)

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 posLast=226226

Other Protein References for SEPT3 Gene

Antibody Products

No data available for DME Specific Peptides for SEPT3 Gene

Domains & Families for SEPT3 Gene

Gene Families for SEPT3 Gene

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

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

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

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

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 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia SEPT3 33 34
  • 95.07 (n)
cow
(Bos Taurus)
Mammalia SEPT3 33 34
  • 94.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT3 34
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept3 33 16 34
  • 93.11 (n)
rat
(Rattus norvegicus)
Mammalia Sept3 33
  • 92.55 (n)
chicken
(Gallus gallus)
Aves SEPT3 33 34
  • 84.99 (n)
lizard
(Anolis carolinensis)
Reptilia SEPT3 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept3 33
  • 80.22 (n)
zebrafish
(Danio rerio)
Actinopterygii sept3 33 34
  • 74.1 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC3 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8439 34
  • 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 Variation AA Info Type
rs1000082910 -- 41,974,234(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000083081 -- 41,984,307(+) T/G intron_variant
rs1000183224 -- 41,980,484(+) C/T intron_variant
rs1000462505 -- 41,987,363(+) C/T intron_variant
rs1000654027 -- 41,972,060(+) T/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 (Biochemical and biophysical research communications 2001) 3 4 22 58
  2. The structure and properties of septin 3: a possible missing link in septin filament formation. (PMID: 23163726) Macedo JN … Araujo AP (The Biochemical journal 2013) 3 4 58
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58
  4. Phosphorylation of septin 3 on Ser-91 by cGMP-dependent protein kinase-I in nerve terminals. (PMID: 15107017) Xue J … Robinson PJ (The Biochemical journal 2004) 3 22 58
  5. Septin 3 gene polymorphism in Alzheimer's disease. (PMID: 15200238) Takehashi M … Ueda K (Gene expression 2004) 3 22 58

Products for SEPT3 Gene

Sources for SEPT3 Gene

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