Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SEPTIN12 Gene

Aliases for SEPTIN12 Gene

  • Septin 12 2 3 5
  • Septin-12 3 4
  • SEPT12 3 5
  • Testicular Tissue Protein Li 168 3
  • SPGF10 3

External Ids for SEPTIN12 Gene

Previous HGNC Symbols for SEPTIN12 Gene

  • SEPT12

Summaries for SEPTIN12 Gene

Entrez Gene Summary for SEPTIN12 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 SEPTIN12 Gene

SEPTIN12 (Septin 12) is a Protein Coding gene. Diseases associated with SEPTIN12 include Spermatogenic Failure 10 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. Among its related pathways are Bacterial invasion of epithelial cells. An important paralog of this gene is SEPTIN9.

UniProtKB/Swiss-Prot for SEPTIN12 Gene

  • Filament-forming cytoskeletal GTPase (By similarity). Involved in spermatogenesis. Involved in the morphogenesis of sperm heads and the elongation of sperm tails probably implicating the association with alpha- and beta-tubulins (PubMed:24213608). Forms a filamentous structure with SEPT7, 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). May play a role in cytokinesis (Potential).

Additional gene information for SEPTIN12 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPTIN12 Gene

Genomics for SEPTIN12 Gene

GeneHancer (GH) Regulatory Elements for SEPTIN12 Gene

Promoters and enhancers for SEPTIN12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J004788 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 619.5 +0.1 144 2 CEBPG RERE BACH1 MAFK SMARCA4 HMG20B ZBTB33 ZIC2 NFKBIZ ZNF316 SEPTIN12 SMIM22 ENSG00000267077 ENSG00000285952 ZNF500
GH16J004800 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 14.9 -14.3 -14331 5.7 ZFX SP1 ELF3 CBFA2T2 ZNF148 NKRF POLR2A GTF2F1 ZNF687 ZSCAN21 ROGDI GC16M004803 ENSG00000285952 CREBBP SEPTIN12 ENSG00000267077 ZNF500 UBN1 EEF2KMT PAM16
GH16J004845 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 12.7 -61.1 -61088 7.6 HDGF SP1 ELF3 ZFX MNT CBFA2T2 NKRF POLR2A MLLT1 ZNF121 UBN1 GLYR1 SEPTIN12 ROGDI PPL ZNF500 NUDT16L1 ENSG00000262185 ALG1 SMIM22
GH16J004794 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 16.1 -7.0 -6979 1.4 NFIB ZIC2 PATZ1 ZNF692 RFX1 NFIC ZFHX2 ELF1 ZNF398 SMIM22 GC16P004795 ENSG00000267077 SEPTIN12 ENSG00000285952
GH16J004765 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE 13.4 +20.9 20947 4.5 ZNF652 SP1 ELF3 ZFX ZKSCAN8 MNT SIX5 NKRF POLR2A MLLT1 ZNF500 SEPTIN12 ROGDI ANKS3 C16orf71 CREBBP GLYR1 UBN1 SMIM22 SEC14L5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPTIN12 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SEPTIN12 Gene

Genomic Locations for SEPTIN12 Gene
chr16:4,777,609-4,788,521
(GRCh38/hg38)
Size:
10,913 bases
Orientation:
Minus strand
chr16:4,827,670-4,838,522
(GRCh37/hg19)
Size:
10,853 bases
Orientation:
Minus strand

Genomic View for SEPTIN12 Gene

Genes around SEPTIN12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPTIN12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPTIN12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPTIN12 Gene

Proteins for SEPTIN12 Gene

  • Protein details for SEPTIN12 Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for SEPTIN12 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. Self-associates. 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; the octomer polymerizes into filaments via the SEPT12 N- and C-termini; the SEPT12:SEPT7 association is mediated by the respective GTP-binding domains (PubMed:25588830). Interacts with SPAG4 and LMNB1 (PubMed:25775403). Associates with alpha- and beta-tubulins (PubMed:24213608).
    SequenceCaution:
    • Sequence=AAH24017.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SEPTIN12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPTIN12 Gene

Post-translational modifications for SEPTIN12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SEPTIN12 Gene

Domains & Families for SEPTIN12 Gene

Gene Families for SEPTIN12 Gene

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

Protein Domains for SEPTIN12 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IYM1

UniProtKB/Swiss-Prot:

SEP12_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 SEPTIN12: view

No data available for Suggested Antigen Peptide Sequences for SEPTIN12 Gene

Function for SEPTIN12 Gene

Molecular function for SEPTIN12 Gene

UniProtKB/Swiss-Prot Function:
Filament-forming cytoskeletal GTPase (By similarity). Involved in spermatogenesis. Involved in the morphogenesis of sperm heads and the elongation of sperm tails probably implicating the association with alpha- and beta-tubulins (PubMed:24213608). Forms a filamentous structure with SEPT7, 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). May play a role in cytokinesis (Potential).

Phenotypes From GWAS Catalog for SEPTIN12 Gene

Gene Ontology (GO) - Molecular Function for SEPTIN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA 21873635
GO:0005515 protein binding IPI 18047794
GO:0005525 GTP binding ISS,IEA --
GO:0019003 GDP binding ISS --
GO:0032947 protein-containing complex scaffold activity IBA --
genes like me logo Genes that share ontologies with SEPTIN12: view
genes like me logo Genes that share phenotypes with SEPTIN12: view

Human Phenotype Ontology for SEPTIN12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEPTIN12 Gene

MGI Knock Outs for SEPTIN12:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN12

Clone Products

  • Applied Biological Materials (abm): Clones for SEPTIN12 - Now 50% OFF >
  • * SEPTIN12 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SEPTIN12 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for SEPTIN12 Gene

Localization for SEPTIN12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPTIN12 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Nucleus. 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. Colocalized with SPAG4 at the nuclear periphery in round spermatids, at sperm neck in elongated spermatids and at midpiece regions in ejaculated spermatozoa. {ECO:0000269 PubMed:18047794, ECO:0000269 PubMed:20801438, ECO:0000269 PubMed:22275165, ECO:0000269 PubMed:25775403}.

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 SEPTIN12 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
nucleus 3
cytosol 2
mitochondrion 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SEPTIN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber ISS --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IEA,IDA 18047794
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with SEPTIN12: view

Pathways & Interactions for SEPTIN12 Gene

PathCards logo

SuperPathways for SEPTIN12 Gene

genes like me logo Genes that share pathways with SEPTIN12: view

Pathways by source for SEPTIN12 Gene

1 KEGG pathway for SEPTIN12 Gene

SIGNOR curated interactions for SEPTIN12 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for SEPTIN12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
GO:0030317 flagellated sperm motility IEA --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with SEPTIN12: view

Drugs & Compounds for SEPTIN12 Gene

No Compound Related Data Available

Transcripts for SEPTIN12 Gene

mRNA/cDNA for SEPTIN12 Gene

Unigene Clusters for SEPTIN12 Gene

Septin 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPTIN12

Clone Products

  • Applied Biological Materials (abm): Clones for SEPTIN12 - Now 50% OFF >
  • * SEPTIN12 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SEPTIN12 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for SEPTIN12 Gene

No ASD Table

Relevant External Links for SEPTIN12 Gene

GeneLoc Exon Structure for
SEPTIN12
ECgene alternative splicing isoforms for
SEPTIN12

Expression for SEPTIN12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for SEPTIN12 Gene:

Hs.126780

mRNA Expression by UniProt/SwissProt for SEPTIN12 Gene:

Q8IYM1-SEP12_HUMAN
Tissue specificity: Widely expressed. Expressed in lymph node.

Evidence on tissue expression from TISSUES for SEPTIN12 Gene

  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPTIN12 Gene

Germ Layers:
  • mesoderm
Systems:
  • reproductive
Regions:
Pelvis:
  • ovary
  • testicle
genes like me logo Genes that share expression patterns with SEPTIN12: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SEPTIN12 Gene

Orthologs for SEPTIN12 Gene

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

Orthologs for SEPTIN12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPT12 35 34
  • 99.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SEPT12 35 34
  • 86.39 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SEPT12 35 34
  • 86.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sept12 17 35 34
  • 85.87 (n)
rat
(Rattus norvegicus)
Mammalia Sept12 34
  • 84.73 (n)
oppossum
(Monodelphis domestica)
Mammalia SEPT12 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEPT12 35 34
  • 78.08 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPT12 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sept12 34
  • 71.82 (n)
zebrafish
(Danio rerio)
Actinopterygii sept12 35 34
  • 68.7 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC3 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8439 35
  • 52 (a)
OneToMany
Cin.2258 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2258 34
Species where no ortholog for SEPTIN12 was found in the sources mined by GeneCards:
  • 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 SEPTIN12 Gene

ENSEMBL:
Gene Tree for SEPTIN12 (if available)
TreeFam:
Gene Tree for SEPTIN12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPTIN12: view image

Paralogs for SEPTIN12 Gene

genes like me logo Genes that share paralogs with SEPTIN12: view

Variants for SEPTIN12 Gene

Sequence variations from dbSNP and Humsavar for SEPTIN12 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs199696526 risk-factor, Spermatogenic failure 10, Spermatogenic failure 10 (SPGF10) [MIM:614822] 4,786,006(-) G/A coding_sequence_variant, missense_variant
rs371195126 risk-factor, Spermatogenic failure 10, Spermatogenic failure 10 (SPGF10) [MIM:614822] 4,783,690(-) C/G/T coding_sequence_variant, missense_variant
rs1000019392 -- 4,782,653(-) G/A intron_variant
rs1000266886 -- 4,789,191(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000340856 -- 4,789,395(-) G/A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SEPTIN12 Gene

Variant ID Type Subtype PubMed ID
esv2422516 CNV deletion 17116639
esv26756 CNV gain+loss 19812545
nsv1046986 CNV gain 25217958

Variation tolerance for SEPTIN12 Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEPTIN12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPTIN12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPTIN12 Gene

Disorders for SEPTIN12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEPTIN12 Gene - From: OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 10
  • spgf10
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:25588830, ECO:0000269 PubMed:25775403}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SEPTIN12

genes like me logo Genes that share disorders with SEPTIN12: view

No data available for Genatlas for SEPTIN12 Gene

Publications for SEPTIN12 Gene

  1. Expression profiling the human septin gene family. (PMID: 15915442) Hall PA … Russell SE (The Journal of pathology 2005) 2 3 4 58
  2. SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins. (PMID: 25588830) Kuo YC … Kuo PL (Journal of cell science 2015) 3 4 58
  3. SEPT12/SPAG4/LAMINB1 complexes are required for maintaining the integrity of the nuclear envelope in postmeiotic male germ cells. (PMID: 25775403) Yeh CH … Lin YH (PloS one 2015) 3 4 58
  4. SEPT12-microtubule complexes are required for sperm head and tail formation. (PMID: 24213608) Kuo PL … Lin YH (International journal of molecular sciences 2013) 3 4 58
  5. SEPT12 mutations cause male infertility with defective sperm annulus. (PMID: 22275165) Kuo YC … Kuo PL (Human mutation 2012) 3 4 58

Products for SEPTIN12 Gene

Sources for SEPTIN12 Gene

Content
Loading form....