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 several transcript variants encoding different isoforms. [provided by RefSeq, May 2018] See more...

Aliases for SEPTIN3 Gene

Aliases for SEPTIN3 Gene

  • Septin 3 2 3 5
  • Neuronal-Specific Septin-3 3 4
  • SEPT3 3 4
  • SEP3 3 4
  • BK250D10.3 3

External Ids for SEPTIN3 Gene

Previous HGNC Symbols for SEPTIN3 Gene

  • SEP3
  • SEPT3

Previous GeneCards Identifiers for SEPTIN3 Gene

  • GC22P042043
  • GC22P042047

Summaries for SEPTIN3 Gene

Entrez Gene Summary for SEPTIN3 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 several transcript variants encoding different isoforms. [provided by RefSeq, May 2018]

GeneCards Summary for SEPTIN3 Gene

SEPTIN3 (Septin 3) is a Protein Coding gene. Diseases associated with SEPTIN3 include Sexual Disorder and Teratocarcinoma. Among its related pathways are Bacterial invasion of epithelial cells and Shigellosis. An important paralog of this gene is SEPTIN9.

UniProtKB/Swiss-Prot Summary for SEPTIN3 Gene

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

Gene Wiki entry for SEPTIN3 Gene

Additional gene information for SEPTIN3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPTIN3 Gene

Genomics for SEPTIN3 Gene

GeneHancer (GH) Regulatory Elements for SEPTIN3 Gene

Promoters and enhancers for SEPTIN3 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
GH22J041976 Promoter 1.6 EPDnew Ensembl CraniofacialAtlas 500.4 +7.7 7726 2 EP300 USF1 ZIC2 ZBTB26 SAP30 EZH2 ZNF341 KLF9 MXI1 ZNF184 SEPTIN3 SMDT1 NDUFA6-DT ENSG00000224883
GH22J041968 Enhancer 0.6 Ensembl 500.7 +0.0 26 1.8 ZIC2 FOXA2 NFIC ZNF263 YY1 ZFHX2 ZNF664 GLIS1 TEAD3 MAZ SEPTIN3 CYP2D6 WBP2NL ENSG00000224883
GH22J042031 Enhancer 1 Ensembl ENCODE 12.1 +61.9 61926 0.8 SP1 EP300 JUND RELA TRIM22 POLR2A BCL11A TCF12 TARDBP ARNT lnc-SEPT3-3 SEPTIN3 NAGA PHETA2 SMDT1 WBP2NL piR-48641
GH22J042021 Enhancer 0.7 Ensembl ENCODE 12.3 +52.8 52816 2.4 ZIC2 SPI1 ELF1 IKZF1 NFE2 GLIS1 ELF4 ZNF507 GABPB1 IKZF2 SMDT1 CYP2D6 WBP2NL SLC25A5P1 SEPTIN3 NAGA PHETA2 TCF20 LINC00634 NDUFA6-DT
GH22J041556 Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 3.7 -411.9 -411932 2.3 TEAD1 SIN3A NR2F2 JUND POLR2A RXRA RARA KDM1A ZBTB33 HNF4A POLR3H SEPTIN3 ENSG00000286491 LOC105373044
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPTIN3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPTIN3

Genomic Locations for SEPTIN3 Gene

Genomic Locations for SEPTIN3 Gene
chr22:41,969,475-41,998,221
(GRCh38/hg38)
Size:
28,747 bases
Orientation:
Plus strand
chr22:42,372,276-42,394,225
(GRCh37/hg19)
Size:
21,950 bases
Orientation:
Plus strand

Genomic View for SEPTIN3 Gene

Genes around SEPTIN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPTIN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPTIN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPTIN3 Gene

Proteins for SEPTIN3 Gene

  • Protein details for SEPTIN3 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 SEPTIN3 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 SEPTIN3 Gene

    Alternative splice isoforms for SEPTIN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPTIN3 Gene

Post-translational modifications for SEPTIN3 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 SEPTIN3 Gene

No data available for DME Specific Peptides for SEPTIN3 Gene

Domains & Families for SEPTIN3 Gene

Gene Families for SEPTIN3 Gene

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

Protein Domains for SEPTIN3 Gene

Blocks:
  • Cell division/GTP binding protein
  • Septin 3 signature
InterPro:
ProtoNet:

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 SEPTIN3: view

No data available for Suggested Antigen Peptide Sequences for SEPTIN3 Gene

Function for SEPTIN3 Gene

Molecular function for SEPTIN3 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.

Phenotypes From GWAS Catalog for SEPTIN3 Gene

Gene Ontology (GO) - Molecular Function for SEPTIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003924 GTPase activity IBA 21873635
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 SEPTIN3: view
genes like me logo Genes that share phenotypes with SEPTIN3: view

Animal Models for SEPTIN3 Gene

MGI Knock Outs for SEPTIN3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPTIN3 Gene

Localization for SEPTIN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPTIN3 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 SEPTIN3 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 3
nucleus 3
cytosol 3
extracellular 1
mitochondrion 1
endosome 1
golgi apparatus 1

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 SEPTIN3 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:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SEPTIN3: view

Pathways & Interactions for SEPTIN3 Gene

PathCards logo

SuperPathways for SEPTIN3 Gene

genes like me logo Genes that share pathways with SEPTIN3: view

Pathways by source for SEPTIN3 Gene

2 KEGG pathways for SEPTIN3 Gene

Gene Ontology (GO) - Biological Process for SEPTIN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0051301 cell division IEA --
GO:0061640 cytoskeleton-dependent cytokinesis IBA 21873635
genes like me logo Genes that share ontologies with SEPTIN3: view

No data available for SIGNOR curated interactions for SEPTIN3 Gene

Drugs & Compounds for SEPTIN3 Gene

(1) Drugs for SEPTIN3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SEPTIN3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SEPTIN3: view

Transcripts for SEPTIN3 Gene

mRNA/cDNA for SEPTIN3 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
7 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 SEPTIN3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEPTIN3 Gene

No ASD Table

Relevant External Links for SEPTIN3 Gene

GeneLoc Exon Structure for
SEPTIN3

Expression for SEPTIN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPTIN3

SOURCE GeneReport for Unigene cluster for SEPTIN3 Gene:

Hs.120483

mRNA Expression by UniProt/SwissProt for SEPTIN3 Gene:

Q9UH03-SEPT3_HUMAN
Tissue specificity: Brain-specific.

Evidence on tissue expression from TISSUES for SEPTIN3 Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with SEPTIN3: view

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 SEPTIN3 Gene

Orthologs for SEPTIN3 Gene

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

Orthologs for SEPTIN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPT3 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT3 31 30
  • 95.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SEPT3 31 30
  • 94.4 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT3 31
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept3 31 30
  • 93.11 (n)
OneToOne
Septin3 17
rat
(Rattus norvegicus)
Mammalia Sept3 30
  • 92.55 (n)
chicken
(Gallus gallus)
Aves SEPT3 31 30
  • 84.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPT3 31
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept3 30
  • 80.22 (n)
zebrafish
(Danio rerio)
Actinopterygii sept3 31 30
  • 74.1 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC3 31
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8439 31
  • 54 (a)
OneToMany
Species where no ortholog for SEPTIN3 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 SEPTIN3 Gene

ENSEMBL:
Gene Tree for SEPTIN3 (if available)
TreeFam:
Gene Tree for SEPTIN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPTIN3: view image

Paralogs for SEPTIN3 Gene

genes like me logo Genes that share paralogs with SEPTIN3: view

Variants for SEPTIN3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPTIN3 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
738661 Benign: not provided 41,981,711(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SEPTIN3 Gene

Structural Variations from Database of Genomic Variants (DGV) for SEPTIN3 Gene

Variant ID Type Subtype PubMed ID
nsv1057208 CNV gain 25217958

Variation tolerance for SEPTIN3 Gene

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

Additional Variant Information for SEPTIN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPTIN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPTIN3 Gene

Disorders for SEPTIN3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SEPTIN3 Gene - From: DISEASES, Novoseek, and GeneCards

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

Additional Disease Information for SEPTIN3

genes like me logo Genes that share disorders with SEPTIN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPTIN3 Gene

Publications for SEPTIN3 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 23 54
  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 54
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 54
  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 23 54
  5. Septin 3 gene polymorphism in Alzheimer's disease. (PMID: 15200238) Takehashi M … Ueda K (Gene expression 2004) 3 23 54

Products for SEPTIN3 Gene

Sources for SEPTIN3 Gene