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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SEPT12 Gene

protein-coding   GIFtS: 44
GCID: GC16M004829

septin 12

  Search for SEPT12
in our new
 Human Malady Compendium 
Biological research products
for SEPT12
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Septin 121 2
FLJ254101
SPGF102
Septin-121

External Ids:    HGNC: 263481   Entrez Gene: 1244042   Ensembl: ENSG000001406237   OMIM: 6115625   UniProtKB: Q8IYM13   

Export aliases for SEPT12 gene to outside databases

Previous GC identifer: GC16M004768


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SEPT12:
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)

UniProtKB/Swiss-Prot: SEP12_HUMAN, Q8IYM1
Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEPT12 gene promoter:
         COUP-TF1   COUP   HNF-4alpha1   E47   PPAR-gamma1   COUP-TF   FOXO4   Hand1   PPAR-gamma2   MRF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SEPT12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEPT12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

SEPT12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPT12 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M004829:  view genomic region     (about GC identifiers)

Start:
4,827,670 bp from pter      End:
4,838,522 bp from pter
Size:
10,853 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SEP12_HUMAN, Q8IYM1 (See protein sequence)
Recommended Name: Septin-12  
Size: 358 amino acids; 40748 Da
Subunit: 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
Subcellular location: 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
Sequence caution: Sequence=AAH24017.1; Type=Erroneous initiation;
Secondary accessions: Q0P6B0 Q1PBH0 Q96LL0
Alternative splicing: 2 isoforms:  Q8IYM1-1   Q8IYM1-2   

Explore the universe of human proteins at neXtProt for SEPT12: NX_Q8IYM1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IYM1

  • SEPT12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001147930.1  NP_653206.2  

    ENSEMBL proteins: 
     ENSP00000464775   ENSP00000379922   ENSP00000268231   ENSP00000467237   ENSP00000468601  
     ENSP00000467281  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber ISS--
    GO:0005819spindle IDA18047794
    GO:0005929cilium ----
    GO:0015630microtubule cytoskeleton IDA--
    GO:0030496midbody IDA18047794


    SEPT12 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SEPT12 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000038 Cell_div_GTP-bd
     IPR016491 Septin

    Graphical View of Domain Structure for InterPro Entry Q8IYM1

    ProtoNet protein and cluster: Q8IYM1

    1 Blocks protein family: IPB000038 Cell division/GTP binding protein

    UniProtKB/Swiss-Prot: SEP12_HUMAN, Q8IYM1
    Similarity: Belongs to the septin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SEP12_HUMAN, Q8IYM1
    Function: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPT12
    1 QIAGEN miScript miRNA Assays for microRNA that regulate SEPT12:
    hsa-miR-330-3p
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18047794
    GO:0005525GTP binding ISS--
    GO:0019003GDP binding ISS--
    GO:0035091phosphatidylinositol binding ISS--
    GO:0042803protein homodimerization activity ISS--


    SEPT12 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Sept12tm1.1Plk for SEPT12
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sept12):
     cellular  endocrine/exocrine gland  reproductive system 

    SEPT12 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SEPT12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/10 Interacting proteins for SEPT12 (Q8IYM11, 3 ENSP000002682314) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SEPT6Q141411, 3, ENSP000003415244EBI-2585067,EBI-1047521 I2D: score=1 STRING: ENSP00000341524
    SEPT1ENSP000003245114STRING: ENSP00000324511
    SEPT10ENSP000003808244STRING: ENSP00000380824
    SEPT11ENSP000002648934STRING: ENSP00000264893
    SEPT14ENSP000003736274STRING: ENSP00000373627
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007049cell cycle IEA--
    GO:0051301cell division IEA--


    SEPT12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SEPT12
    Search CenterWatch for drugs/clinical trials and news about SEPT12 / SEP12 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SEPT12 gene (2 alternative transcripts): 
    NM_001154458.2  NM_144605.4  

    Unigene Cluster for SEPT12:

    Septin 12
    Hs.126780  [show with all ESTs]
    Unigene Representative Sequence: EF620906
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000588241 ENST00000396693(uc002cxq.3 uc002cxr.3 uc010bty.3)
    ENST00000268231 ENST00000587603 ENST00000590741 ENST00000591861 ENST00000590303
    ENST00000591624

    miRNA
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    hsa-miR-330-3p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK058139.1 AK098718.1 BC024017.1 BC035619.1 DQ456996.1 DQ517531.1 EF620906.1 

    3 DOTS entries:

    DT.95367332  DT.97807255  DT.120686226 

    24/27 AceView cDNA sequences (see all 27):

    AI554914 AA382830 BC035619 BI829633 AI393577 AI797580 BC024017 BI830976 
    AK098718 BI830266 NM_144605 AA913452 BI520378 AK058139 AI018797 BG719750 
    BI832349 BP370735 AW137847 BM564067 AI890919 AA448485 BF222811 AI809012 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SEPT12    About this scheme

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


    ECgene alternative splicing isoforms for SEPT12

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SEPT12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACGATTCTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SEPT12 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesMature Sertoli CellsTestis
    Intermediate MesodermIntermediate MesodermIntermediate Mesoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Intermediate limb mesenchymal cells (ILM cells) (Primary Cell)Bone, Cartilage, Limb

    See SEPT12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEPT12

    SOURCE GeneReport for Unigene cluster: Hs.126780

    UniProtKB/Swiss-Prot: SEP12_HUMAN, Q8IYM1
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SEPT12 gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SEPT121 septin 12 74.71(n)
    71.79(a)
      416408  XM_003642160.1  XP_003642208.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEPT126
    --
    67(a)
    1 ↔ 1
    GL343811.1(3758-52400)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC057732.12   -- 76.05(n)    BC057732.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wu:fe23c111 wu:fe23c11 66.88(n)
    66.99(a)
      564600  XM_687930.3  XP_693022.3 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-596
    UNCoordinated family member (unc-59)
    26(a)
    possible ortholog
    I(13629214-13633485)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SEPT12 gene
    SEPT32  SEPT92  SEPT142  SEPT42  SEPT12  SEPT72  SEPT62  SEPT7L2  
    SEPT112  SEPT22  SEPT102  SEPT82  SEPT52  
    15 SIMAP similar genes for SEPT12 using alignment to 6 protein entries:     SEP12_HUMAN (see all proteins):
    SEPT3    SEPT9    SEPT7L    SEPT1    Nbla02942    SEPT7
    SEPT2    DKFZp686F17268    SEPT4    SEPT5    SEPT11    SEPT8
    SEPT6    SEPT14    SEPT10

    SEPT12 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/362 NCBI SNPs in SEPT12 are shown (see all 362    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1906530061,2
    --4827193(+) AACCCA/GGGAGG 2 -- ds50010--------
    rs80544011,2
    C,F,A,H,--4827211(+) TGTAGT/CGAGCC 2 -- ds50018Minor allele frequency- C:0.33NA WA CSA 15
    rs1824672341,2
    --4827231(+) CCATCA/GCACTC 2 -- ds50010--------
    rs1447451691,2
    --4827255(+) AAGAGC/TGAAAC 2 -- ds50010--------
    rs1467299551,2
    --4827289(+) ACAAAA/CAAAAA 2 -- ds50010--------
    rs1488456811,2
    --4827290(+) CAAAAA/CAAAAA 2 -- ds50010--------
    rs1871078361,2
    --4827346(+) ACAAAA/CACATA 2 -- ds50010--------
    rs735132441,2
    C,--4827369(+) CAGTGG/TTAATC 2 -- ds50012Minor allele frequency- T:0.02WA 120
    rs786479011,2
    F,--4827397(+) TGAGGC/AGGAAG 2 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1141388791,2
    --4827492(+) TCAAGG/ATGGTG 2 -- ds50011Minor allele frequency- A:0.01WA 118

    HapMap Linkage Disequilibrium report for SEPT12 (4827670 - 4838522 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SEPT12
         3 CNVs: 5436 66925 72441
    Human Gene Mutation Database (HGMD): SEPT12

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SEPT12
    DNA2.0 Custom Variant and Variant Library Synthesis for SEPT12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SEPT12 for disorders           About MalaCards

    SEPT12 for disorders           About GeneDecksing

    OMIM gene information: 611562    OMIM disorders: --

    UniProtKB/Swiss-Prot: SEP12_HUMAN, Q8IYM1
  • Defects in SEPT12 are the cause of 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


    Export disorders for SEPT12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SEPT12 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with SEPT12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression profiling the human septin gene family. (PubMed id 15915442)1, 2, 3 Hall P.A....Russell S.E. (2005)
    2. SEPT12 mutations cause male infertility with defective sperm annulus. (PubMed id 22275165)1, 2 Kuo Y.C.... Kuo P.L. (2012)
    3. GTP binding is required for SEPT12 to form filaments and to interact with SEPT11. (PubMed id 18443421)1, 2 Ding X.... Yu L. (2008)
    4. SEPT12 interacts with SEPT6 and this interaction alters the filament structure of SEPT6 in Hela cells. (PubMed id 18047794)1, 2 Ding X.... Yu L. (2007)
    5. The septins. (PubMed id 14611653)1, 3 Kinoshita M. (2003)
    6. Single nucleotide polymorphisms in the SEPTIN12 gene m ay be associated with azoospermia by meiotic arrest in Japanese men. (PubMed id 22116646)1 Miyamoto T....Sengoku K. (2012)
    7. SEPTIN12 genetic variants confer susceptibility to ter atozoospermia. (PubMed id 22479503)1 Lin Y.H....Kuo P.L. (2012)
    8. Single-nucleotide polymorphisms in the SEPTIN12 gene m ay be a genetic risk factor for Japanese patients with Sertoli cell-only syndrom e. (PubMed id 21636737)1 Miyakawa H....Sengoku K. (2012)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. The expression level of septin12 is critical for spermiogenesis. (PubMed id 19359518)1 Lin Y.H....Kuo P.L. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 124404 HGNC: 26348 AceView: FLJ25410 Ensembl:ENSG00000140623 euGenes: HUgn124404
    ECgene: SEPT12 H-InvDB: SEPT12

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for SEPT12 Pharmacogenomics, SNPs, Pathways

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    Patent Information for SEPT12 gene:
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