Aliases for SEPT12 Gene
External Ids for SEPT12 Gene
- HGNC: 26348
- Entrez Gene: 124404
- Ensembl: ENSG00000140623
- OMIM: 611562
- UniProtKB: Q8IYM1
Previous GeneCards Identifiers for SEPT12 Gene
- GC16M004768
- GC16M004829
Summaries 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. Diseases associated with SEPT12 include Spermatogenic Failure 10 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. Among its related pathways are Bacterial invasion of epithelial cells. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and GTP binding. An important paralog of this gene is SEPT9.
UniProtKB/Swiss-Prot for SEPT12 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 SEPT12 Gene
- Monarch Initiative
- Search for SEPT12 at DataMed
- Search for SEPT12 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEPT12 Gene
Genomics for SEPT12 Gene
GeneHancer (GH) Regulatory Elements for SEPT12 Gene
- Top Transcription factor binding sites by QIAGEN in the SEPT12 gene promoter:
Regulatory Element Products
Genomic Locations for SEPT12 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)
Genomic View for SEPT12 Gene
- Cytogenetic band:
-
- 16p13.3 by Ensembl
- 16p13.3 by Entrez Gene
- 16p13.3 by HGNC


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
- 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. 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};
Protein Expression for SEPT12 Gene
Post-translational modifications for SEPT12 Gene
Other Protein References for SEPT12 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
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No data available for DME Specific Peptides for SEPT12 Gene
Domains & Families for SEPT12 Gene
Gene Families for SEPT12 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
Protein Domains for SEPT12 Gene
- InterPro:
- Blocks:
- ProtoNet:
Graphical View of Domain Structure for InterPro Entry
Q8IYM1UniProtKB/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.
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). 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 SEPT12 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 18047794 |
GO:0005525 | GTP binding | IEA,ISS | -- |
GO:0019003 | GDP binding | ISS | -- |
GO:0035091 | phosphatidylinositol binding | ISS | -- |
GO:0042802 | identical protein binding | IPI | 25588830 |
Phenotypes for SEPT12 Gene
- MGI mutant phenotypes for SEPT12:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SEPT12:
Animal Models for SEPT12 Gene
- MGI Knock Outs for SEPT12:
-
- Sept12 tm1.1Plk
Animal Model Products
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-
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-
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-
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Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available Sep12 gene related products
- orf clones - Search results for available Sep12 gene related products
- Applied Biological Materials Clones for SEPT12
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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-
ViGene Biosciences adenoviral particle packaged cDNA for SEPT12 gene
- Search ViGene Biosciences for SEPT12
No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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. 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}.
- Microtubules (1)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001725 | stress fiber | ISS | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005819 | spindle | IDA,IEA | 18047794 |
GO:0005856 | cytoskeleton | IEA | -- |
Pathways & Interactions for SEPT12 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Bacterial invasion of epithelial cells |
Pathways by source for SEPT12 Gene
1 KEGG pathway for SEPT12 Gene
Interacting Proteins for SEPT12 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007049 | cell cycle | IEA | -- |
GO:0007283 | spermatogenesis | IEA | -- |
GO:0030154 | cell differentiation | IEA | -- |
GO:0051301 | cell division | IEA | -- |
GO:0097722 | sperm motility | IEA | -- |
Transcripts for SEPT12 Gene
mRNA/cDNA for SEPT12 Gene
- (5) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (27) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for SEPT12
- genomics-online: gRNA clones - Search results for available Sep12 gene related products
- Applied Biological Materials CRISPR for SEPT12
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SEPT12
miRNA Products
- Search ViGene Biosciences for SEPT12
Inhibitory RNA Products
- Origene sirna and shrna products in human, mouse, rat for SEPT12
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- genomics-online: shRNA clones - Search results for available Sep12 gene related products
- Search ViGene Biosciences for SEPT12
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SEPT12
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SEPT12
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available Sep12 gene related products
- orf clones - Search results for available Sep12 gene related products
- Applied Biological Materials Clones for SEPT12
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||
SP5: |
Expression for SEPT12 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
-
Testis (Reproductive System)
- Mature Sertoli Cells Seminiferous Tubules
mRNA differential expression in normal tissues according to GTEx for SEPT12 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SEPT12 Gene
SOURCE GeneReport for Unigene cluster for SEPT12 Gene:
Hs.126780mRNA Expression by UniProt/SwissProt for SEPT12 Gene:
Q8IYM1-SEP12_HUMANEvidence on tissue expression from TISSUES for SEPT12 Gene
- Nervous system(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPT12 Gene
- mesoderm
- reproductive
- ovary
- testicle
Primer Products
-
OriGene qPCR primer pairs for SEPT12
-
OriGene qPCR primer pairs and template standards for SEPT12
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Orthologs for SEPT12 Gene
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | SEPT12 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | SEPT12 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | SEPT12 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Sept12 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Sept12 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | SEPT12 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | SEPT12 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | SEPT12 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | sept12 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | sept12 33 34 |
|
||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CDC3 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8439 34 |
|
OneToMany | |
sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2258 33 |
|
- Species where no ortholog for SEPT12 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)
Paralogs for SEPT12 Gene
(14) SIMAP similar genes for SEPT12 Gene using alignment to 6 proteins:
Variants for SEPT12 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/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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2422516 | CNV | deletion | 17116639 |
esv26756 | CNV | gain+loss | 19812545 |
nsv1046986 | CNV | gain | 25217958 |
Additional Variant Information for SEPT12 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPT12 Gene
Disorders for SEPT12 Gene

(4) MalaCards diseases for SEPT12 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
spermatogenic failure 10 |
|
|
non-syndromic male infertility due to sperm motility disorder |
|
|
nasopharyngitis |
|
|
nasopharyngeal disease |
|
|
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 SEPT12
No data available for Genatlas for SEPT12 Gene
Publications for SEPT12 Gene
- Expression profiling the human septin gene family. (PMID: 15915442) Hall PA … Russell SE (The Journal of pathology 2005) 2 3 4 58
- 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
- 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
- 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
- SEPT12 mutations cause male infertility with defective sperm annulus. (PMID: 22275165) Kuo YC … Kuo PL (Human mutation 2012) 3 4 58
Products for SEPT12 Gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 31 available Sep12 Antibodies ranked by validation data
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- genomics-online: primer clones - Search results for available Sep12 gene related products
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Sources for SEPT12 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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