Human Gene SEPTIN2 (ENST00000360051.7_1) from GENCODE V47lift37
  Description: septin 2, transcript variant 11 (from RefSeq NM_001321033.3)
Gencode Transcript: ENST00000360051.7_1
Gencode Gene: ENSG00000168385.18_13
Transcript (Including UTRs)
   Position: hg19 chr2:242,254,704-242,293,439 Size: 38,736 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr2:242,263,648-242,289,589 Size: 25,942 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:242,254,704-242,293,439)mRNA (may differ from genome)Protein (361 aa)
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-  Comments and Description Text from UniProtKB
  ID: SEPT2_HUMAN
DESCRIPTION: RecName: Full=Septin-2; AltName: Full=Neural precursor cell expressed developmentally down-regulated protein 5; Short=NEDD-5;
FUNCTION: Filament-forming cytoskeletal GTPase. 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.
SUBUNIT: 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. Interacts with MAP4.
INTERACTION: Q14141:SEPT6; NbExp=4; IntAct=EBI-741220, EBI-745901;
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Chromosome, centromere, kinetochore. Cleavage furrow. Midbody. Cytoplasm, cell cortex. Cell projection, cilium membrane (By similarity). 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.
TISSUE SPECIFICITY: Widely expressed. Up-regulated in liver cancer.
MISCELLANEOUS: Coordinated expression with SEPT6 and SEPT7.
SIMILARITY: Belongs to the septin family.
SEQUENCE CAUTION: Sequence=AAY14718.1; Type=Erroneous gene model prediction; Sequence=BAA09928.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SEPT2ID44125ch2q37.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 89.41 RPKM in Cells - Cultured fibroblasts
Total median expression: 2854.78 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -140.00440-0.318 Picture PostScript Text
3' UTR -504.602087-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000038 - Cell_div_GTP-bd
IPR016491 - Septin
IPR008113 - Septin2

Pfam Domains:
PF00735 - Septin
PF01926 - 50S ribosome-binding GTPase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2QA5 - X-ray MuPIT 2QAG - X-ray MuPIT 2QNR - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15019
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0042802 identical protein binding
GO:0045296 cadherin binding

Biological Process:
GO:0007049 cell cycle
GO:0007224 smoothened signaling pathway
GO:0007283 spermatogenesis
GO:0030154 cell differentiation
GO:0031175 neuron projection development
GO:0051301 cell division
GO:0060271 cilium assembly

Cellular Component:
GO:0000145 exocyst
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0005930 axoneme
GO:0005938 cell cortex
GO:0016020 membrane
GO:0030496 midbody
GO:0031105 septin complex
GO:0031514 motile cilium
GO:0032154 cleavage furrow
GO:0032391 photoreceptor connecting cilium
GO:0042995 cell projection
GO:0048471 perinuclear region of cytoplasm
GO:0060170 ciliary membrane
GO:0070062 extracellular exosome
GO:0097227 sperm annulus
GO:0097730 non-motile cilium


-  Descriptions from all associated GenBank mRNAs
  BC014455 - Homo sapiens septin 2, mRNA (cDNA clone MGC:23048 IMAGE:4906575), complete cds.
D63878 - Homo sapiens mRNA for KIAA0158 gene.
JD261625 - Sequence 242649 from Patent EP1572962.
JD364306 - Sequence 345330 from Patent EP1572962.
BC043180 - Homo sapiens septin 2, mRNA (cDNA clone IMAGE:5287881).
BC033559 - Homo sapiens septin 2, mRNA (cDNA clone MGC:42401 IMAGE:4821654), complete cds.
GQ901047 - Homo sapiens clone HEL-T-159 epididymis secretory sperm binding protein mRNA, complete cds.
BC040676 - Homo sapiens septin 2, mRNA (cDNA clone IMAGE:4817303).
AF038404 - Homo sapiens homolog of Nedd5 (hNedd5) mRNA, complete cds.
BX648000 - Homo sapiens mRNA; cDNA DKFZp686E1159 (from clone DKFZp686E1159).
D28540 - Homo sapiens mRNA for Diff6, H5, CDC10 homologue, complete cds.
AK294563 - Homo sapiens cDNA FLJ55467 complete cds, highly similar to Septin-2.
AB037854 - Homo sapiens KIAA1433 mRNA for KIAA1433 protein.
CU689650 - Synthetic construct Homo sapiens gateway clone IMAGE:100019115 5' read SEPT2 mRNA.
DQ895447 - Synthetic construct Homo sapiens clone IMAGE:100009907; FLH184481.01L; RZPDo839G06143D septin 2 (SEPT2) gene, encodes complete protein.
AB383775 - Synthetic construct DNA, clone: pF1KSDA0158, Homo sapiens SEPT2 gene for septin-2, complete cds, without stop codon, in Flexi system.
DQ892247 - Synthetic construct clone IMAGE:100004877; FLH184485.01X; RZPDo839G06144D septin 2 (SEPT2) gene, encodes complete protein.
KJ897234 - Synthetic construct Homo sapiens clone ccsbBroadEn_06628 SEPT2 gene, encodes complete protein.
KJ901598 - Synthetic construct Homo sapiens clone ccsbBroadEn_10992 SEPT2 gene, encodes complete protein.
JD026952 - Sequence 7976 from Patent EP1572962.
AK025163 - Homo sapiens cDNA: FLJ21510 fis, clone COL05746.
JD116688 - Sequence 97712 from Patent EP1572962.
JD510066 - Sequence 491090 from Patent EP1572962.
JD357840 - Sequence 338864 from Patent EP1572962.
JD115348 - Sequence 96372 from Patent EP1572962.
JD292198 - Sequence 273222 from Patent EP1572962.
JD025631 - Sequence 6655 from Patent EP1572962.
JD028620 - Sequence 9644 from Patent EP1572962.
JD381861 - Sequence 362885 from Patent EP1572962.
JD051133 - Sequence 32157 from Patent EP1572962.
JD083072 - Sequence 64096 from Patent EP1572962.
JD042562 - Sequence 23586 from Patent EP1572962.
JD545978 - Sequence 527002 from Patent EP1572962.
JD552707 - Sequence 533731 from Patent EP1572962.
JD348829 - Sequence 329853 from Patent EP1572962.
JD416149 - Sequence 397173 from Patent EP1572962.
JD530338 - Sequence 511362 from Patent EP1572962.
JD281840 - Sequence 262864 from Patent EP1572962.
JD309945 - Sequence 290969 from Patent EP1572962.
JD298691 - Sequence 279715 from Patent EP1572962.
JD546584 - Sequence 527608 from Patent EP1572962.
JD235063 - Sequence 216087 from Patent EP1572962.
JD527331 - Sequence 508355 from Patent EP1572962.
JD206118 - Sequence 187142 from Patent EP1572962.
JD345379 - Sequence 326403 from Patent EP1572962.
JD359236 - Sequence 340260 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DGE8, DIFF6, ENST00000360051.1, ENST00000360051.2, ENST00000360051.3, ENST00000360051.4, ENST00000360051.5, ENST00000360051.6, KIAA0158, NEDD5, NM_001321033, Q14132, Q15019, Q53QU3, Q8IUK9, Q96CB0, SEPT2, SEPT2_HUMAN, SEPTIN2 , uc318bjd.1
UCSC ID: ENST00000360051.7_1
RefSeq Accession: NM_001008491.3
Protein: Q15019 (aka SEPT2_HUMAN or SEP2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.