Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SEPT12 contributors: mct - updated : 09-10-2015
HGNC name septin 12
HGNC id 26348
Location 16p13.3      Physical location : 4.827.675 - 4.838.399
Synonym symbol(s) FLJ25410, SPGF10
DNA
TYPE functioning gene
STRUCTURE 10.73 kb     10 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 1223 - 312 - 2005 15915442
10 - 1361 - 358 - 2005 15915442
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Reproductivemale systemtestis    Homo sapiens
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunedendritic cell
Reproductivespermatozoa Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a conserved GTP-binding motif at its N-terminus
  • HOMOLOGY
    interspecies homolog to murine Sept12 (87.4 pc)
    Homologene
    FAMILY
  • septin family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm,nuclear bodies
    text
  • in mature human spermatozoa, SEPT12 and NDC1 are majorly colocalized in the centrosome regions; however, NDC1 is only slightly co-expressed with SEPT12 at the annulus of the sperm tail
  • basic FUNCTION
  • may be involved in mammalian fertility
  • filament-forming GTP-binding protein involved in a variety of cellular process such as cytokinesis, exocytosis, and membrane dynamics
  • polymerizing GTP-binding protein required for many cellular functions, such as membrane compartmentalization, vesicular trafficking, mitosis, and cytoskeletal remodeling
  • its expression levels are critical for mammalian spermiogenesis
  • vital roles in sperm head shaping, nuclear DNA condensation, and early embryonic development
  • testis-specific gene critical for the terminal differentiation of male germ cells
  • vital roles of SEPT12 in sperm nuclear integrity and tail development
  • SEPTIN12-microtubule complexes are critical for sperm formation during spermiogenesis
  • is likely vital for the formation of sperm morphological characteristics during spermiogenesis
  • CELLULAR PROCESS cell cycle
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • SEPT12-NDC1 complexes are involved in mammalian spermiogenesis
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
  • interacting with SEPT11 (GTP-binding by SEPT12 is required for interaction with SEPT11 but not with itself)
  • can interact with SEPT6, interaction independent of the coiled coil domain of SEPT6, and that may affect the septin filament structure
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in the testicular tissues of men with either hypospermatogenesis or maturation arrest
    constitutional germinal mutation     loss of function
    loss-of-function mutations in SEPT12 disrupted sperm structural integrity by perturbing septin filament formation
    constitutional germinal mutation      
    in oligozoospermia or teratozoospermia or both
    Susceptibility to to teratozoospermia
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS