Human Gene SEPTIN12 (ENST00000268231.13_7) from GENCODE V47lift37
  Description: septin 12, transcript variant 2 (from RefSeq NM_144605.5)
Gencode Transcript: ENST00000268231.13_7
Gencode Gene: ENSG00000140623.14_12
Transcript (Including UTRs)
   Position: hg19 chr16:4,827,607-4,838,346 Size: 10,740 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr16:4,827,798-4,837,646 Size: 9,849 Coding Exon Count: 9 

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 (chr16:4,827,607-4,838,346)mRNA (may differ from genome)Protein (358 aa)
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-  Comments and Description Text from UniProtKB
  ID: SEP12_HUMAN
DESCRIPTION: RecName: Full=Septin-12;
FUNCTION: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).
SUBUNIT: 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). Interacts with SEPT6 and SEPT11. Forms homodimers.
INTERACTION: Q14141:SEPT6; NbExp=3; IntAct=EBI-2585067, EBI-745901;
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Cell projection, cilium, flagellum. Note=At interphase, forms a filamentous structure in the cytoplasm. During anaphase, translocates to the central spindle region and to the midbody during cytokinesis. Found in the sperm annulus.
TISSUE SPECIFICITY: Widely expressed.
DISEASE: Defects in SEPT12 are the cause of spermatogenic failure 10 (SPGF10) [MIM:614822]. An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. The most prominent feature is a defective sperm annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail.
SIMILARITY: Belongs to the septin family.
SEQUENCE CAUTION: Sequence=AAH24017.1; Type=Erroneous initiation;

-  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
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 98.75 RPKM in Testis
Total median expression: 109.36 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.5088-0.290 Picture PostScript Text
3' UTR -52.50191-0.275 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

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

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

ModBase Predicted Comparative 3D Structure on Q8IYM1
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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:0019003 GDP binding
GO:0035091 phosphatidylinositol binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0007049 cell cycle
GO:0007283 spermatogenesis
GO:0030154 cell differentiation
GO:0051301 cell division
GO:0097722 sperm motility

Cellular Component:
GO:0001725 stress fiber
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0015630 microtubule cytoskeleton
GO:0030496 midbody
GO:0031105 septin complex
GO:0031514 motile cilium
GO:0032154 cleavage furrow
GO:0042995 cell projection
GO:0048471 perinuclear region of cytoplasm
GO:0097227 sperm annulus


-  Descriptions from all associated GenBank mRNAs
  EF620906 - Homo sapiens septin 12 variant 2 (SEPT12) mRNA, complete cds, alternatively spliced.
AX721308 - Sequence 268 from Patent WO0220754.
AX721313 - Sequence 273 from Patent WO0220754.
BC024017 - Homo sapiens septin 12, mRNA (cDNA clone IMAGE:4822677), partial cds.
DQ517531 - Homo sapiens septin 12 transcript variant 2 mRNA, complete cds, alternatively spliced.
HM005481 - Homo sapiens clone HTL-T-168 testicular tissue protein Li 168 mRNA, complete cds.
AK058139 - Homo sapiens cDNA FLJ25410 fis, clone TST03087.
DQ456996 - Homo sapiens septin 12 transcript variant 1 mRNA, complete cds.
AK098718 - Homo sapiens cDNA FLJ25852 fis, clone TST09213.
JD305620 - Sequence 286644 from Patent EP1572962.
BC035619 - Homo sapiens septin 12, mRNA (cDNA clone MGC:45437 IMAGE:5172555), complete cds.
JD336782 - Sequence 317806 from Patent EP1572962.
JD087944 - Sequence 68968 from Patent EP1572962.
KJ895388 - Synthetic construct Homo sapiens clone ccsbBroadEn_04782 SEPT12 gene, encodes complete protein.
HQ447801 - Synthetic construct Homo sapiens clone IMAGE:100071144; CCSB009861_01 septin 12 (SEPT12) gene, encodes complete protein.
JD474874 - Sequence 455898 from Patent EP1572962.
JD455203 - Sequence 436227 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000268231.1, ENST00000268231.10, ENST00000268231.11, ENST00000268231.12, ENST00000268231.2, ENST00000268231.3, ENST00000268231.4, ENST00000268231.5, ENST00000268231.6, ENST00000268231.7, ENST00000268231.8, ENST00000268231.9, NM_144605, Q0P6B0, Q1PBH0, Q8IYM1, Q96LL0, SEP12_HUMAN, SEPT12, SEPTIN12 , uc317inh.1, uc317inh.2
UCSC ID: ENST00000268231.13_7
RefSeq Accession: NM_144605.5
Protein: Q8IYM1 (aka SEP12_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
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