Aliases for SEPTIN2 Gene

Aliases for SEPTIN2 Gene

  • Septin 2 2 3 5
  • Neural Precursor Cell Expressed, Developmentally Down-Regulated 5 2 3
  • Septin-2 3 4
  • KIAA0158 2 4
  • NEDD-5 3 4
  • Pnutl3 2 3
  • HNedd5 2 3
  • DIFF6 3 4
  • NEDD5 3 4
  • SEPT2 3 4
  • Neural Precursor Cell Expressed Developmentally Down-Regulated Protein 5 4
  • Epididymis Secretory Sperm Binding Protein 3
  • SEPTIN2 5

External Ids for SEPTIN2 Gene

Previous HGNC Symbols for SEPTIN2 Gene

  • DIFF6
  • NEDD5
  • SEPT2

Summaries for SEPTIN2 Gene

GeneCards Summary for SEPTIN2 Gene

SEPTIN2 (Septin 2) is a Protein Coding gene. Diseases associated with SEPTIN2 include Pineal Region Meningioma and Amyotrophic Neuralgia. Among its related pathways are Organelle biogenesis and maintenance and Shigellosis. An important paralog of this gene is SEPT5-GP1BB.

UniProtKB/Swiss-Prot Summary for SEPTIN2 Gene

  • Filament-forming cytoskeletal GTPase. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). Required for normal organization of the actin cytoskeleton. Plays a role in the biogenesis of polarized columnar-shaped epithelium by maintaining polyglutamylated microtubules, thus facilitating efficient vesicle transport, and by impeding MAP4 binding to tubulin. Required for the progression through mitosis. Forms a scaffold at the midplane of the mitotic splindle required to maintain CENPE localization at kinetochores and consequently chromosome congression. During anaphase, may be required for chromosome segregation and spindle elongation. Plays a role in ciliogenesis and collective cell movements. In cilia, required for the integrity of the diffusion barrier at the base of the primary cilium that prevents diffusion of transmembrane proteins between the cilia and plasma membranes: probably acts by regulating the assembly of the tectonic-like complex (also named B9 complex) by localizing TMEM231 protein. May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.

Gene Wiki entry for SEPTIN2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPTIN2 Gene

Genomics for SEPTIN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEPTIN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPTIN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPTIN2

Genomic Locations for SEPTIN2 Gene

Latest Assembly
chr2:241,315,100-241,354,027
(GRCh38/hg38)
Size:
38,928 bases
Orientation:
Plus strand

Previous Assembly
chr2:242,254,770-242,293,442
(GRCh37/hg19 by Entrez Gene)
Size:
38,673 bases
Orientation:
Plus strand

chr2:242,254,515-242,293,442
(GRCh37/hg19 by Ensembl)
Size:
38,928 bases
Orientation:
Plus strand

Genomic View for SEPTIN2 Gene

Genes around SEPTIN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPTIN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPTIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPTIN2 Gene

Proteins for SEPTIN2 Gene

  • Protein details for SEPTIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15019-SEPT2_HUMAN
    Recommended name:
    Septin-2
    Protein Accession:
    Q15019
    Secondary Accessions:
    • B4DGE8
    • Q14132
    • Q53QU3
    • Q8IUK9
    • Q96CB0

    Protein attributes for SEPTIN2 Gene

    Size:
    361 amino acids
    Molecular mass:
    41487 Da
    Quaternary structure:
    • Septins polymerize into heterooligomeric protein complexes that form filaments, and associate with cellular membranes, actin filaments and microtubules (PubMed:17637674, PubMed:25588830, Ref.36). GTPase activity is required for filament formation. Filaments are assembled from asymmetrical heterotrimers, composed of SEPTIN2, SEPTIN6 and SEPTIN7 that associate head-to-head to form a hexameric unit (PubMed:16093351, PubMed:16914550). Interaction between SEPTIN2 and SEPTIN7 seems indirect. Interacts with SEPTIN5 (By similarity). Interaction with SEPTIN4 not detected (By similarity). Interacts with SEPTIN9 (PubMed:19145258). Component of a septin core octomeric complex consisting of SEPTIN12, SEPTIN7, SEPTIN6 and SEPTIN2 or SEPTIN4 in the order 12-7-6-2-2-6-7-12 or 12-7-6-4-4-6-7-12 and located in the sperm annulus (PubMed:16093351, PubMed:16914550). Interacts with MAP4. Interacts with DZIP1L (PubMed:28530676).
    SequenceCaution:
    • Sequence=AAY14718.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA09928.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • Coordinated expression with SEPTIN6 and SEPTIN7.

    Three dimensional structures from OCA and Proteopedia for SEPTIN2 Gene

    Alternative splice isoforms for SEPTIN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPTIN2 Gene

Post-translational modifications for SEPTIN2 Gene

  • Ubiquitination at Lys3, Lys116, Lys232, Lys275, Lys310, and Lys325
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEPTIN2 Gene

Domains & Families for SEPTIN2 Gene

Gene Families for SEPTIN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SEPTIN2 Gene

InterPro:
Blocks:
  • Cell division/GTP binding protein
  • Septin 2 signature

Graphical View of Domain Structure for InterPro Entry

Q15019

UniProtKB/Swiss-Prot:

SEPT2_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 SEPTIN2: view

No data available for Suggested Antigen Peptide Sequences for SEPTIN2 Gene

Function for SEPTIN2 Gene

Molecular function for SEPTIN2 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). Required for normal organization of the actin cytoskeleton. Plays a role in the biogenesis of polarized columnar-shaped epithelium by maintaining polyglutamylated microtubules, thus facilitating efficient vesicle transport, and by impeding MAP4 binding to tubulin. Required for the progression through mitosis. Forms a scaffold at the midplane of the mitotic splindle required to maintain CENPE localization at kinetochores and consequently chromosome congression. During anaphase, may be required for chromosome segregation and spindle elongation. Plays a role in ciliogenesis and collective cell movements. In cilia, required for the integrity of the diffusion barrier at the base of the primary cilium that prevents diffusion of transmembrane proteins between the cilia and plasma membranes: probably acts by regulating the assembly of the tectonic-like complex (also named B9 complex) by localizing TMEM231 protein. May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.

Phenotypes From GWAS Catalog for SEPTIN2 Gene

Gene Ontology (GO) - Molecular Function for SEPTIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA 21873635
GO:0005515 protein binding IPI 10321247
GO:0005525 GTP binding IEA --
GO:0042802 identical protein binding IPI --
genes like me logo Genes that share ontologies with SEPTIN2: view
genes like me logo Genes that share phenotypes with SEPTIN2: view

miRNA for SEPTIN2 Gene

miRTarBase miRNAs that target SEPTIN2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN2

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEPTIN2 Gene

Localization for SEPTIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPTIN2 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Chromosome, centromere, kinetochore. Cleavage furrow. Midbody. Cytoplasm, cell cortex. Cell projection, cilium membrane. Cell projection, cilium, flagellum. Note=In metaphase cells, localized within the microtubule spindle. At the metaphase plate, in close apposition to the kinetochores of the congressed chromosomes. In cells undergoing cytokinesis, localized to the midbody, the ingressing cleavage furrow, and the central spindle. During bacterial infection, displays a collar shape structure next to actin at the pole of invading bacteria. In epithelial cells, colocalizes with polyglutamylated tubulin around the trans-Golgi network, as well as juxatnuclear and proximal Golgi apparatus. Localizes at the base of the cilia near the morphological distinction between the cilia and plasma membranes. Found in the sperm annulus (PubMed:25588830). {ECO:0000269 PubMed:25588830}.

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 SEPTIN2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 4
extracellular 4
cytosol 4
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (4)
  • Cytokinetic bridge (3)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SEPTIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 exocyst IEA --
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus IDA 10942595
genes like me logo Genes that share ontologies with SEPTIN2: view

Pathways & Interactions for SEPTIN2 Gene

genes like me logo Genes that share pathways with SEPTIN2: view

Pathways by source for SEPTIN2 Gene

2 KEGG pathways for SEPTIN2 Gene
2 Qiagen pathways for SEPTIN2 Gene
  • Rho Family GTPases
  • RhoA Pathway

SIGNOR curated interactions for SEPTIN2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SEPTIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007224 smoothened signaling pathway ISS --
GO:0007283 spermatogenesis IEA --
GO:0017157 regulation of exocytosis IBA 21873635
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SEPTIN2: view

Drugs & Compounds for SEPTIN2 Gene

No Compound Related Data Available

Transcripts for SEPTIN2 Gene

mRNA/cDNA for SEPTIN2 Gene

31 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
45 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SEPTIN2 Gene

No ASD Table

Relevant External Links for SEPTIN2 Gene

GeneLoc Exon Structure for
SEPTIN2

Expression for SEPTIN2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPTIN2

SOURCE GeneReport for Unigene cluster for SEPTIN2 Gene:

Hs.721234

mRNA Expression by UniProt/SwissProt for SEPTIN2 Gene:

Q15019-SEPT2_HUMAN
Tissue specificity: Widely expressed. Up-regulated in liver cancer.

Evidence on tissue expression from TISSUES for SEPTIN2 Gene

  • Nervous system(5)
  • Liver(4.6)
  • Muscle(4.5)
  • Blood(4.4)
  • Bone marrow(4.4)
  • Lung(4.2)
  • Skin(3.9)
  • Intestine(3.6)
  • Kidney(3.6)
  • Eye(3.3)
  • Pancreas(3.2)
  • Heart(2.8)
  • Adrenal gland(2.4)
  • Stomach(2.3)
  • Lymph node(2.3)
  • Bone(2.3)
  • Spleen(2.2)
  • Thyroid gland(2.2)
  • Gall bladder(2.1)

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 SEPTIN2 Gene

Orthologs for SEPTIN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPTIN2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEPT2 29 30
  • 99.41 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SEPT2 30
  • 96 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SEPT2 30
  • 95 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Sept2 29 30
  • 90.03 (n)
OneToOne
Septin2 16
Rat
(Rattus norvegicus)
Mammalia Sept2 29
  • 89.29 (n)
Cow
(Bos Taurus)
Mammalia SEPT2 29 30
  • 88.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SEPT2 29 30
  • 87.1 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SEPT2 29 30
  • 82.05 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEPT2 30
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sept2 29
  • 79.23 (n)
Str.10233 29
African clawed frog
(Xenopus laevis)
Amphibia XlSeptA 29
Zebrafish
(Danio rerio)
Actinopterygii sept2 29 30
  • 75.95 (n)
OneToOne
wufb52g01 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5618 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002645 29
  • 66.46 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Sep1 29 30
  • 66.06 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7975 30
  • 74 (a)
OneToOne
Species where no ortholog for SEPTIN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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 SEPTIN2 Gene

ENSEMBL:
Gene Tree for SEPTIN2 (if available)
TreeFam:
Gene Tree for SEPTIN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPTIN2: view image
Alliance of Genome Resources:
Additional Orthologs for SEPTIN2

Paralogs for SEPTIN2 Gene

Pseudogenes.org Pseudogenes for SEPTIN2 Gene

genes like me logo Genes that share paralogs with SEPTIN2: view

Variants for SEPTIN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPTIN2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs34185831 Benign: not provided 241,337,694(+) G/A
NM_004404.5(SEPTIN2):c.498G>A (p.Ala166=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEPTIN2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SEPTIN2 Gene

Variant ID Type Subtype PubMed ID
dgv2195n106 CNV deletion 24896259
esv2307098 CNV deletion 18987734
esv2445970 CNV deletion 19546169
esv2721993 CNV deletion 23290073
esv2721994 CNV deletion 23290073
esv3594825 CNV gain 21293372
esv3594826 CNV gain 21293372
esv3594827 CNV gain 21293372
esv3594828 CNV gain 21293372
esv3816 CNV loss 18987735

Variation tolerance for SEPTIN2 Gene

Residual Variation Intolerance Score: 24.5% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEPTIN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPTIN2
Leiden Open Variation Database (LOVD)
SEPTIN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPTIN2 Gene

Disorders for SEPTIN2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SEPTIN2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
pineal region meningioma
  • pineal meningioma
amyotrophic neuralgia
  • neuralgic amyotrophy
brachial plexus neuropathy
  • brachial plexopathy
polycystic kidney disease
  • adpkd
joubert syndrome 1
  • jbts1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEPTIN2

genes like me logo Genes that share disorders with SEPTIN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPTIN2 Gene

Publications for SEPTIN2 Gene

  1. The phosphorylation of SEPT2 on Ser218 by casein kinase 2 is important to hepatoma carcinoma cell proliferation. (PMID: 19165576) Yu W … Yu L (Molecular and cellular biochemistry 2009) 3 4 22
  2. Structural analysis of septin 2, 6, and 7 complexes. (PMID: 16914550) Low C … Macara IG (The Journal of biological chemistry 2006) 3 4 22
  3. Septin 2 phosphorylation: theoretical and mass spectrometric evidence for the existence of a single phosphorylation site in vivo. (PMID: 15150837) She YM … Trimble WS (Rapid communications in mass spectrometry : RCM 2004) 3 4 22
  4. Isolation and mapping of a human gene (DIFF6) homologous to yeast CDC3, CDC10, CDC11, and CDC12, and mouse Diff6. (PMID: 8697812) Mori T … Nakamura Y (Cytogenetics and cell genetics 1996) 2 3 4
  5. Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. (PMID: 28530676) Lu H … Bergmann C (Nature genetics 2017) 3 4

Products for SEPTIN2 Gene

Sources for SEPTIN2 Gene