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SEPT12 Gene(Protein Coding)

Septin 12

GCID:
GC16M004777
GIFtS:
53
Genes Participants
UDN Logo

Aliases for SEPT12 Gene

Aliases for SEPT12 Gene

  • Septin 12 2 3 5
  • Testicular Tissue Protein Li 168 3
  • Septin-12 3
  • SPGF10 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. 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. 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).

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

Products:

  1. Regulatory Element

Regulatory Elements for SEPT12 Gene

Enhancers for SEPT12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G004867 1 ENCODE dbSUPER 22.6 -80.4 -80379 3.6 PKNOX1 SIN3A ZIC2 CTBP1 ZNF366 RCOR1 FOS ZNF687 MAZ ZHX2 UBN1 SEPT12 ZNF500 GLYR1 NUDT16L1 PPL SMIM22 ENSG00000267077 MGRN1 PIR48909
GH16G004924 1.2 ENCODE dbSUPER 17 -136.6 -136594 1.6 ELF3 MLX ARID4B SIN3A ZNF48 RAD21 RARA RCOR1 MIXL1 HMG20B SEPT12 ENSG00000267077 GC16M004952 GC16P004899
GH16G004765 1.5 FANTOM5 ENCODE 13.3 +21.1 21059 4.2 HDGF FOXA2 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 SEPT12 ROGDI C16orf71 ANKS3 ZNF500 GLYR1 UBN1 SMIM22 SEC14L5 CDIP1
GH16G004800 1.3 ENCODE dbSUPER 14.9 -14.3 -14331 5.7 PKNOX1 ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 FOS ROGDI CREBBP SEPT12 ENSG00000267077 ZNF500 PAM16
GH16G004918 1 ENCODE dbSUPER 16.8 -130.6 -130569 1.5 PKNOX1 SIN3A ZIC2 CTBP1 GATA3 RCOR1 TCF7L2 MAZ ZNF687 ZHX2 SEPT12 GLYR1 PPL UBN1 ZNF500 GC16P004899 GC16M004952
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEPT12 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SEPT12 gene promoter:

Genomic Location for SEPT12 Gene

Chromosome:
16
Start:
4,777,609 bp from pter
End:
4,788,521 bp from pter
Size:
10,913 bases
Orientation:
Minus strand

Genomic View for SEPT12 Gene

Genes around SEPT12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPT12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPT12 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SEPT12 Gene

Proteins for SEPT12 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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. 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 SEPT12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPT12 Gene

Protein Expression for SEPT12 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SEPT12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SEPT12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SEPT12 Gene

Domains & Families for SEPT12 Gene

Gene Families for SEPT12 Gene

HGNC:

Protein Domains for SEPT12 Gene

InterPro:
Blocks:
ProtoNet:

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 SEPT12: view

No data available for Suggested Antigen Peptide Sequences for SEPT12 Gene

Function for SEPT12 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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).

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with SEPT12: view
genes like me logo Genes that share phenotypes with SEPT12: view

Human Phenotype Ontology for SEPT12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SEPT12 Gene

MGI Knock Outs for SEPT12:

Inhibitory RNA Products

Flow Cytometry Products

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}.

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 SEPT12 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3
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:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IDA,IEA 18047794
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with SEPT12: view

Pathways & Interactions 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

SIGNOR curated interactions for SEPT12 Gene

Inactivates:

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with SEPT12: view

Drugs & Compounds for SEPT12 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for SEPT12 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

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 :

Unigene Clusters for SEPT12 Gene

Septin 12:
Representative Sequences:

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEPT12 Gene

mRNA expression in normal human tissues for SEPT12 Gene
mRNA expression by BioGPS for SEPT12 GenemRNA expression by GTEx 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 (x44.9).

Protein differential expression in normal tissues from HIPED for SEPT12 Gene

This gene is overexpressed in Testis (40.4) and Ovary (28.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SEPT12 Gene



Protein tissue co-expression partners for SEPT12 Gene

- Elite partner

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. Expressed in lymph node.

Evidence 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

Germ Layers:
  • mesoderm
Systems:
  • reproductive
Organs:
Pelvis:
  • ovary
  • testicle
genes like me logo Genes that share expression patterns with SEPT12: view

Primer 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 34 35
  • 99.26 (n)
cow
(Bos Taurus)
 Mammalia SEPT12 34 35
  • 86.39 (n)
dog
(Canis familiaris)
 Mammalia SEPT12 34 35
  • 86.01 (n)
mouse
(Mus musculus)
 Mammalia Sept12 34 16 35
  • 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 34 35
  • 78.08 (n)
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 34 35
  • 68.7 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CDC3 35
  • 24 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8439 35
  • 52 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.2258 34
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)

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

(14) SIMAP similar genes for SEPT12 Gene using alignment to 6 proteins:

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
rs199696526 other, Spermatogenic failure 10 (SPGF10) [MIM:614822] 4,786,006(+) GCAGC(A/G)TCTGG reference, missense
rs371195126 other, Spermatogenic failure 10 (SPGF10) [MIM:614822] 4,783,690(+) GCTGT(C/T)GGCCC reference, missense
rs1000019392 -- 4,782,653(+) GGCTG(A/G)GGTGC intron-variant
rs1000266886 -- 4,789,191(+) ATTTT(C/T)AGTAG intron-variant, upstream-variant-2KB
rs1000340856 -- 4,789,395(+) ATCTC(G/T)GCTCA intron-variant, upstream-variant-2KB

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

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

Variation tolerance for SEPT12 Gene

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

Relevant External Links for SEPT12 Gene

Human Gene Mutation Database (HGMD)
SEPT12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPT12

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

Disorders for SEPT12 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SEPT12 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 10
  • spermatogenic failure with defective sperm annulus
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
ezh2-related weaver syndrome
sertoli cell-only syndrome
  • del castillo syndrome
nasopharyngitis
  • chronic nasopharyngitis
- 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.

Relevant External Links for SEPT12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEPT12
genes like me logo Genes that share disorders with SEPT12: view

No data available for Genatlas 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 64
  2. SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octameric complexes with other SEPT proteins. (PMID: 25588830) Kuo Y.C. … Kuo P.L. (J. Cell. Sci. 2015) 3 4 64
  3. SEPT12/SPAG4/LAMINB1 complexes are required for maintaining the integrity of the nuclear envelope in postmeiotic male germ cells. (PMID: 25775403) Yeh C.H. … Lin Y.H. (PLoS ONE 2015) 3 4 64
  4. SEPT12-microtubule complexes are required for sperm head and tail formation. (PMID: 24213608) Kuo P.L. … Lin Y.H. (Int J Mol Sci 2013) 3 4 64
  5. SEPT12 mutations cause male infertility with defective sperm annulus. (PMID: 22275165) Kuo Y.C. … Kuo P.L. (Hum. Mutat. 2012) 3 4 64

Products for SEPT12 Gene

Sources for SEPT12 Gene

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