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Aliases for SEPT2 Gene

Aliases for SEPT2 Gene

  • Septin 2 2 3 5
  • Neural Precursor Cell Expressed, Developmentally Down-Regulated 5 2 3
  • NEDD-5 3 4
  • DIFF6 3 4
  • NEDD5 3 4
  • Neural Precursor Cell Expressed Developmentally Down-Regulated Protein 5 4
  • Septin-2 3
  • KIAA0158 4
  • PNUTL3 3
  • HNedd5 3

External Ids for SEPT2 Gene

Previous HGNC Symbols for SEPT2 Gene

  • DIFF6
  • NEDD5

Previous GeneCards Identifiers for SEPT2 Gene

  • GC02P241975
  • GC02P242254
  • GC02P234010

Summaries for SEPT2 Gene

GeneCards Summary for SEPT2 Gene

SEPT2 (Septin 2) is a Protein Coding gene. Diseases associated with SEPT2 include Gastrointestinal Anthrax and Cutaneous Anthrax. Among its related pathways are Bacterial invasion of epithelial cells and ERK Signaling. GO annotations related to this gene include GTP binding and enzyme regulator activity. An important paralog of this gene is SEPT4.

UniProtKB/Swiss-Prot for SEPT2 Gene

  • Filament-forming cytoskeletal GTPase. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 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 SEPT2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT2 Gene

Genomics for SEPT2 Gene

Regulatory Elements for SEPT2 Gene

Enhancers for SEPT2 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
GH02G241354 1.3 ENCODE dbSUPER 60.6 +42.3 42270 6.0 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF143 PAF1 ZNF263 SP3 SEPT2 HDLBP FARP2 ANO7 LOC105373973
GH02G241313 1.4 ENCODE dbSUPER 31.9 +1.0 954 4.9 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC SSRP1 SEPT2 HDLBP FARP2 ANO7 LINC01238 LINC01237 ENSG00000235351
GH02G241279 1.1 Ensembl ENCODE 39.5 -35.3 -35313 0.8 HDAC1 ZNF366 EGR2 CEBPB ZNF592 POLR2H TFDP1 ZFP69B ATF4 SMARCA4 SEPT2 ANO7 HDLBP PASK PPP1R7 MTERF4 LOC101927509
GH02G241311 1.3 Ensembl ENCODE dbSUPER 31.9 -2.8 -2840 1.9 HDGF FOXA2 FOSL1 GATA3 NCOR1 EED SCRT2 ZNF600 RELB IKZF2 SEPT2 FARP2 LOC101927509
GH02G241410 0.9 ENCODE 40.8 +96.5 96478 2.6 PKNOX1 ARNT FEZF1 GLIS2 FOS SP3 TSHZ1 ZNF592 CREB3 SMARCA4 SEPT2 HDLBP FARP2 ANO7 GC02P241444 PIR56981 LOC105373973
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEPT2 on UCSC Golden Path with GeneCards custom track

Promoters for SEPT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000133263 800 3401 CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC SSRP1 ZNF610

Genomic Location for SEPT2 Gene

Chromosome:
2
Start:
241,315,100 bp from pter
End:
241,354,027 bp from pter
Size:
38,928 bases
Orientation:
Plus strand

Genomic View for SEPT2 Gene

Genes around SEPT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT2 Gene

Proteins for SEPT2 Gene

  • Protein details for SEPT2 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 SEPT2 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. GTPase activity is required for filament formation. Filaments are assembled from asymmetrical heterotrimers, composed of SEPT2, SEPT6 and SEPT7 that associate head-to-head to form a hexameric unit. Interaction between SEPT2 and SEPT7 seems indirect. Interacts with SEPT5 (By similarity). Interaction with SEPT4 not detected (By similarity). Interacts with SEPT9. Component of a septin core octomeric complex consisting of SEPT12, SEPT7, SEPT6 and SEPT2 or SEPT4 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. Interacts with MAP4.
    Miscellaneous:
    • Coordinated expression with SEPT6 and SEPT7.
    SequenceCaution:
    • Sequence=AAY14718.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA09928.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEPT2 Gene

    Alternative splice isoforms for SEPT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPT2 Gene

Post-translational modifications for SEPT2 Gene

  • Ubiquitination at Lys3, isoforms=2, 3116, isoforms=2, 3232, Lys275, isoforms=2, 3310, and Lys325
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SEPT2 Gene

Domains & Families for SEPT2 Gene

Gene Families for SEPT2 Gene

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 SEPT2: view

No data available for Suggested Antigen Peptide Sequences for SEPT2 Gene

Function for SEPT2 Gene

Molecular function for SEPT2 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 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 Ontology (GO) - Molecular Function for SEPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 10321247
GO:0005525 GTP binding IEA --
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with SEPT2: view
genes like me logo Genes that share phenotypes with SEPT2: view

Animal Model Products

miRNA for SEPT2 Gene

miRTarBase miRNAs that target SEPT2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SEPT2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SEPT2 Gene

Localization for SEPT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT2 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 SEPT2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SEPT2 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 SEPT2: view

Pathways & Interactions for SEPT2 Gene

genes like me logo Genes that share pathways with SEPT2: view

Pathways by source for SEPT2 Gene

1 KEGG pathway for SEPT2 Gene
2 Qiagen pathways for SEPT2 Gene

SIGNOR curated interactions for SEPT2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SEPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0007224 smoothened signaling pathway ISS --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SEPT2: view

Drugs & Compounds for SEPT2 Gene

No Compound Related Data Available

Transcripts for SEPT2 Gene

Unigene Clusters for SEPT2 Gene

Septin 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SEPT2

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b · 12c ^ 13a ·
SP1: - - - -
SP2: - - -
SP3: - - - - - - -
SP4: - - - -
SP5: - - - - - - - -
SP6: - -
SP7: - - -
SP8: -
SP9:
SP10:
SP11:

ExUns: 13b ^ 14 ^ 15 ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for SEPT2 Gene

GeneLoc Exon Structure for
SEPT2
ECgene alternative splicing isoforms for
SEPT2

Expression for SEPT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEPT2 Gene

Protein differential expression in normal tissues from HIPED for SEPT2 Gene

This gene is overexpressed in Bone marrow stromal cell (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SEPT2 Gene



Protein tissue co-expression partners for SEPT2 Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for SEPT2 Gene:

Hs.721234

mRNA Expression by UniProt/SwissProt for SEPT2 Gene:

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

Evidence on tissue expression from TISSUES for SEPT2 Gene

  • Nervous system(5)
  • Liver(4.5)
  • Blood(4.4)
  • Bone marrow(4.4)
  • Muscle(4.4)
  • Lung(4.1)
  • Skin(3.7)
  • Intestine(3.3)
  • Kidney(3)
  • Pancreas(2.9)
  • Eye(2.8)
  • Spleen(2.2)
  • Thyroid gland(2.2)
  • Gall bladder(2.1)
  • Heart(2.1)
  • Adrenal gland(2)
  • Lymph node(2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with SEPT2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPT2 Gene

Orthologs for SEPT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPT2 34 35
  • 99.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SEPT2 35
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEPT2 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept2 34 16 35
  • 90.03 (n)
rat
(Rattus norvegicus)
Mammalia Sept2 34
  • 89.29 (n)
cow
(Bos Taurus)
Mammalia SEPT2 34 35
  • 88.55 (n)
dog
(Canis familiaris)
Mammalia SEPT2 34 35
  • 87.1 (n)
chicken
(Gallus gallus)
Aves SEPT2 34 35
  • 82.05 (n)
lizard
(Anolis carolinensis)
Reptilia SEPT2 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept2 34
  • 79.23 (n)
Str.10233 34
African clawed frog
(Xenopus laevis)
Amphibia XlSeptA 34
zebrafish
(Danio rerio)
Actinopterygii sept2 34 35
  • 75.95 (n)
wufb52g01 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5618 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002645 34
  • 66.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sep1 34 35
  • 66.06 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7975 35
  • 74 (a)
OneToOne
Species where no ortholog for SEPT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 SEPT2 Gene

ENSEMBL:
Gene Tree for SEPT2 (if available)
TreeFam:
Gene Tree for SEPT2 (if available)

Paralogs for SEPT2 Gene

Paralogs for SEPT2 Gene

Pseudogenes.org Pseudogenes for SEPT2 Gene

genes like me logo Genes that share paralogs with SEPT2: view

Variants for SEPT2 Gene

Sequence variations from dbSNP and Humsavar for SEPT2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000077919 -- 241,329,065(+) GTGTA(G/T)GTGGC intron-variant
rs1000097346 -- 241,329,486(+) ATCCT(A/G)TTACA intron-variant
rs1000134804 -- 241,329,279(+) GCCAC(C/T)ACACC intron-variant
rs1000161216 -- 241,339,567(+) TTCCT(A/G)GATGC intron-variant
rs1000197078 -- 241,343,979(+) CCCCA(A/G)GATAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEPT2 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 SEPT2 Gene

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

Relevant External Links for SEPT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPT2 Gene

Disorders for SEPT2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEPT2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
gastrointestinal anthrax
cutaneous anthrax
  • anthrax, skin type
- elite association - COSMIC cancer census association via MalaCards
Search SEPT2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SEPT2

Genetic Association Database (GAD)
SEPT2
Human Genome Epidemiology (HuGE) Navigator
SEPT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPT2
genes like me logo Genes that share disorders with SEPT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEPT2 Gene

Publications for SEPT2 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. (Mol. Cell. Biochem. 2009) 3 4 22 64
  2. Structural analysis of septin 2, 6, and 7 complexes. (PMID: 16914550) Low C. … Macara I.G. (J. Biol. Chem. 2006) 3 4 22 64
  3. Septin 2 phosphorylation: theoretical and mass spectrometric evidence for the existence of a single phosphorylation site in vivo. (PMID: 15150837) She Y.M. … Trimble W.S. (Rapid Commun. Mass Spectrom. 2004) 3 4 22 64
  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. (Cytogenet. Cell Genet. 1996) 2 3 4 64
  5. SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins. (PMID: 25588830) Kuo Y.C. … Kuo P.L. (J. Cell. Sci. 2015) 3 4 64

Products for SEPT2 Gene

  • Addgene plasmids for SEPT2

Sources for SEPT2 Gene

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