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Aliases for SEPT12 Gene

Aliases for SEPT12 Gene

  • Septin 12 2 3
  • SPGF10 3 6
  • Septin-12 3

External Ids for SEPT12 Gene

Previous GeneCards Identifiers for SEPT12 Gene

  • GC16M004768
  • GC16M004829

Summaries for SEPT12 Gene

Entrez Gene Summary for SEPT12 Gene

  • This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for SEPT12 Gene

SEPT12 (Septin 12) is a Protein Coding gene. Among its related pathways are Bacterial invasion of epithelial cells. GO annotations related to this gene include protein homodimerization activity and phosphatidylinositol binding. An important paralog of this gene is SEPT6.

UniProtKB/Swiss-Prot for SEPT12 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT12 Gene

Genomics for SEPT12 Gene

Regulatory Elements for SEPT12 Gene

Genomic Location for SEPT12 Gene

Start:
4,777,614 bp from pter
End:
4,788,521 bp from pter
Size:
10,908 bases
Orientation:
Minus strand

Genomic View for SEPT12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SEPT12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPT12 Gene

Proteins for SEPT12 Gene

  • Protein details for SEPT12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYM1-SEP12_HUMAN
    Recommended name:
    Septin-12
    Protein Accession:
    Q8IYM1
    Secondary Accessions:
    • Q0P6B0
    • Q1PBH0
    • Q96LL0

    Protein attributes for SEPT12 Gene

    Size:
    358 amino acids
    Molecular mass:
    40748 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). Interacts with SEPT6 and SEPT11. Forms homodimers.
    SequenceCaution:
    • Sequence=AAH24017.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SEPT12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPT12 Gene

Proteomics data for SEPT12 Gene at MOPED

Post-translational modifications for SEPT12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SEPT12 Gene

No data available for DME Specific Peptides for SEPT12 Gene

Domains for SEPT12 Gene

Gene Families for SEPT12 Gene

HGNC:

Protein Domains for SEPT12 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IYM1

UniProtKB/Swiss-Prot:

SEP12_HUMAN :
  • Q8IYM1
Domain:
  • Contains 1 septin-type G (guanine nucleotide-binding) domain.
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 SEPT12: view

No data available for Suggested Antigen Peptide Sequences for SEPT12 Gene

Function for SEPT12 Gene

Molecular function for SEPT12 Gene

UniProtKB/Swiss-Prot Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential).

Gene Ontology (GO) - Molecular Function for SEPT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0003677 DNA binding --
GO:0005515 protein binding IPI 18047794
GO:0005524 ATP binding --
GO:0005525 GTP binding ISS --
genes like me logo Genes that share ontologies with SEPT12: view
genes like me logo Genes that share phenotypes with SEPT12: view

Animal Models for SEPT12 Gene

MGI Knock Outs for SEPT12:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SEPT12 Gene

Localization for SEPT12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPT12 Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEPT12 Gene COMPARTMENTS Subcellular localization image for SEPT12 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SEPT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber ISS --
GO:0005819 spindle IDA 18047794
GO:0015630 microtubule cytoskeleton IDA --
GO:0016021 integral component of membrane --
GO:0030496 midbody IDA 18047794
genes like me logo Genes that share ontologies with SEPT12: view

Pathways for SEPT12 Gene

genes like me logo Genes that share pathways with SEPT12: view

Pathways by source for SEPT12 Gene

1 KEGG pathway for SEPT12 Gene

Gene Ontology (GO) - Biological Process for SEPT12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with SEPT12: view

Transcripts for SEPT12 Gene

Unigene Clusters for SEPT12 Gene

Septin 12:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SEPT12

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEPT12 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP1: - - - -
SP2: - - -
SP3: - -
SP4: -
SP5:

Relevant External Links for SEPT12 Gene

GeneLoc Exon Structure for
SEPT12
ECgene alternative splicing isoforms for
SEPT12

Expression for SEPT12 Gene

mRNA expression in normal human tissues for SEPT12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEPT12 Gene

This gene is overexpressed in Testis (44.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SEPT12 Gene

SOURCE GeneReport for Unigene cluster for SEPT12 Gene Hs.126780

mRNA Expression by UniProt/SwissProt for SEPT12 Gene

Q8IYM1-SEP12_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with SEPT12: view

In Situ Assay Products

Orthologs for SEPT12 Gene

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

Orthologs for SEPT12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPT12 35
  • 99.26 (n)
  • 99.44 (a)
SEPT12 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SEPT12 35
  • 86.39 (n)
  • 84.62 (a)
SEPT12 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT12 35
  • 86.01 (n)
  • 86.48 (a)
SEPT12 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sept12 35
  • 85.87 (n)
  • 88 (a)
Sept12 16
Sept12 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEPT12 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sept12 35
  • 84.73 (n)
  • 86.23 (a)
chicken
(Gallus gallus)
Aves SEPT12 35
  • 78.08 (n)
  • 75.93 (a)
SEPT12 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPT12 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept12 35
  • 71.82 (n)
  • 70.1 (a)
zebrafish
(Danio rerio)
Actinopterygii sept12 35
  • 68.7 (n)
  • 69.15 (a)
sept12 36
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC3 36
  • 24 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2258 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8439 36
  • 52 (a)
OneToMany
Species with no ortholog for SEPT12:
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 SEPT12 Gene

ENSEMBL:
Gene Tree for SEPT12 (if available)
TreeFam:
Gene Tree for SEPT12 (if available)

Paralogs for SEPT12 Gene

Paralogs for SEPT12 Gene

genes like me logo Genes that share paralogs with SEPT12: view

Variants for SEPT12 Gene

Sequence variations from dbSNP and Humsavar for SEPT12 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs759991 -- 4,783,969(+) CAGTG(C/T)ACCCG intron-variant, synonymous-codon, reference
rs3833435 -- 4,785,793(+) AAAGA(-/A)GAGAG intron-variant
rs6500632 -- 4,781,096(+) tctac(C/T)aaaaa intron-variant
rs6500633 - 4,783,550(+) GGTTC(C/T)GCTGG reference, missense
rs6500634 -- 4,783,614(+) GCCCC(C/T)GCTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEPT12 Gene

Variant ID Type Subtype PubMed ID
dgv2589n71 CNV Loss 21882294
dgv2590n71 CNV Loss 21882294
nsv905248 CNV Loss 21882294
nsv905250 CNV Loss 21882294
esv26756 CNV Gain+Loss 19812545
esv2422516 CNV Deletion 17116639

Relevant External Links for SEPT12 Gene

HapMap Linkage Disequilibrium report
SEPT12
Human Gene Mutation Database (HGMD)
SEPT12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPT12 Gene

Disorders for SEPT12 Gene

(1) OMIM Diseases for SEPT12 Gene (611562)

UniProtKB/Swiss-Prot

SEP12_HUMAN
  • 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. {ECO:0000269 PubMed:22275165}. Note=The disease is caused by mutations affecting the gene represented in this entry.

No disorders were found for SEPT12 Gene.

Publications for SEPT12 Gene

  1. Expression profiling the human septin gene family. (PMID: 15915442) Hall P.A. … Russell S.E.H. (J. Pathol. 2005) 2 3 4
  2. The septins. (PMID: 14611653) Kinoshita M. (Genome Biol. 2003) 2 3
  3. SEPT12 interacts with SEPT6 and this interaction alters the filament structure of SEPT6 in Hela cells. (PMID: 18047794) Ding X. … Yu L. (J. Biochem. Mol. Biol. 2007) 3 4
  4. GTP binding is required for SEPT12 to form filaments and to interact with SEPT11. (PMID: 18443421) Ding X. … Yu L. (Mol. Cells 2008) 3 4
  5. SEPT12 mutations cause male infertility with defective sperm annulus. (PMID: 22275165) Kuo Y.C. … Kuo P.L. (Hum. Mutat. 2012) 3 4

Products for SEPT12 Gene

Sources for SEPT12 Gene

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