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

SPAG6 Gene

protein-coding   GIFtS: 50
GCID: GC10P022634

sperm associated antigen 6

 Explore 5 diseases affiliated with
SPAG6 via our new
 Human Malady Compendium 
Biological research products
for SPAG6
    

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

Aliases
Sperm Associated Antigen 61 2     Sperm Flagellar Protein2 3
Repro-SA-11 2 3     Axoneme Central Apparatus Protein2
Pf161     Sperm-Associated Antigen 62
Protein PF16 Homolog2 3     PF163

External Ids:    HGNC: 112151   Entrez Gene: 95762   Ensembl: ENSG000000773277   OMIM: 6057305   UniProtKB: O756023   

Export aliases for SPAG6 gene to outside databases

Previous GC identifers: GC10P022369 GC10P022784 GC10P022638 GC10P022674


(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 SPAG6:
The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies
in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of
proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm
antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This
protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif
known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm
flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Dec 2011)

UniProtKB/Swiss-Prot: SPAG6_HUMAN, O75602
Function: Important for structural integrity of the central apparatus in the sperm tail and for flagellar motility (By
similarity)

Gene Wiki entry for SPAG6


(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_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPAG6 gene promoter:
         Nkx3-1   Nkx3-1 v4   STAT1   STAT1beta   Nkx3-1 v1   E4BP4   STAT1alpha   Nkx3-1 v2   Nkx3-1 v3   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPAG6 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPAG6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPAG6


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

Entrez Gene cytogenetic band: 10p12.2   Ensembl cytogenetic band:  10p12.2   HGNC cytogenetic band: 10p12.31

SPAG6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPAG6 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P022634:  view genomic region     (about GC identifiers)

Start:
22,634,399 bp from pter      End:
22,743,153 bp from pter
Size:
108,755 bases      Orientation:
plus 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: SPAG6_HUMAN, O75602 (See protein sequence)
Recommended Name: Sperm-associated antigen 6  
Size: 509 amino acids; 55476 Da
Subunit: Interacts with SPAG16 and SPAG17 (By similarity)
Subcellular location: Cytoplasm, cytoskeleton. Cell projection, cilium, flagellum. Note=Associated with microtubules.
Detected on the sperm flagellum
Secondary accessions: A8K1I8 B4DXZ4 Q5VUX5 Q5VUX6 Q5VUX7 Q6FI74 Q8NHQ6
Alternative splicing: 5 isoforms:  O75602-1   O75602-2   O75602-3   O75602-4   O75602-5   (Derived from EST data. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPAG6: NX_O75602

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75602

  • SPAG6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001240783.1  NP_001240784.1  NP_036575.1  NP_758442.1  

    ENSEMBL proteins: 
     ENSP00000365811   ENSP00000411111   ENSP00000323599   ENSP00000406594   ENSP00000365788  
     ENSP00000365786   ENSP00000441325  

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    Uscn Proteins for SPAG6

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule IEA--
    GO:0005929cilium IEA--
    GO:0005930axoneme TAS10493827
    GO:0015630microtubule cytoskeleton IDA--


    SPAG6 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

    SPAG6 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry O75602

    ProtoNet protein and cluster: O75602

    1 Blocks protein family: IPB000225 Armadillo repeat

    UniProtKB/Swiss-Prot: SPAG6_HUMAN, O75602
    Similarity: Contains 8 ARM repeats


    (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: SPAG6_HUMAN, O75602
    Function: Important for structural integrity of the central apparatus in the sperm tail and for flagellar motility (By
    similarity)

         Genatlas biochemistry entry for SPAG6:
    sperm associated antigen 6,highly expressed in testis located to the tails of permeabilized human sperm but mediating
    protein-protein interacting

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----


    SPAG6 for ontologies           About GeneDecksing


    Animal Models:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Spag6):
     craniofacial  growth/size  mortality/aging  nervous system  reproductive system 

    SPAG6 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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPAG6

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for SPAG6 (O756023 ENSP000003658114) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SPAG17Q6Q7593, ENSP000003378044I2D: score=1 STRING: ENSP00000337804
    SPAG16Q8N0X23, ENSP000003325924I2D: score=1 STRING: ENSP00000332592
    LGR6ENSP000003562474STRING: ENSP00000356247
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007283spermatogenesis ----
    GO:0007286spermatid development TAS10493827
    GO:0030030cell projection organization IEA--
    GO:0030317sperm motility IEA--


    SPAG6 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 SPAG6
    Search CenterWatch for drugs/clinical trials and news about SPAG6 

    (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,
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    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 SPAG6 gene (4 alternative transcripts): 
    NM_001253854.1  NM_001253855.1  NM_012443.3  NM_172242.2  

    Unigene Cluster for SPAG6:

    Sperm associated antigen 6
    Hs.655170  [show with all ESTs]
    Unigene Representative Sequence: NM_001253854
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376624(uc010qct.2 uc001iri.3 uc009xkh.3 uc001irj.3 uc021poe.1)
    ENST00000488555 ENST00000456231 ENST00000313311 ENST00000435326 ENST00000494631
    ENST00000490361 ENST00000487973 ENST00000376603 ENST00000376601 ENST00000538630


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    hsa-miR-3164 hsa-miR-3671 hsa-miR-607 hsa-miR-4282 hsa-miR-888 hsa-miR-1257 hsa-miR-548l
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    Additional cDNA sequence: 

    AF079363.1 AK289903.1 AK302194.1 AK310247.1 AL080136.1 BC030585.2 CR533552.1 HM370395.1 

    8 DOTS entries:

    DT.95236409  DT.112956  DT.91657597  DT.91750917  DT.100783855  DT.121222346  DT.99931325  DT.97842512 

    24/138 AceView cDNA sequences (see all 138):

    BI825659 AA993321 BU676627 AA382799 BM563455 BI829159 BI766237 BQ102237 
    BI826256 AW451584 BQ582129 AA909554 AA781214 BM982010 BM719899 BE466010 
    BQ102501 AA485055 NM_172242 BM128366 AW235912 BU679018 BM128823 CD299983 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SPAG6    About this scheme

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


    ECgene alternative splicing isoforms for SPAG6

    (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

    SPAG6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CATTTTTACT

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

    About this image

    SPAG6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSpermatidGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Dorsal forebrain-like neurons (Generation of midbra...)Brain
    Posterior foregut-like cells (A scalable, suspensi...)

    See SPAG6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPAG6

    SOURCE GeneReport for Unigene cluster: Hs.655170

    UniProtKB/Swiss-Prot: SPAG6_HUMAN, O75602
    Tissue specificity: Highly expressed in testis

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    In Situ
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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 SPAG6 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spag65
    BC0611941
    sperm associated antigen 65
    cDNA sequence BC0611941
    86.38(n)1
    91.55(a)1
      16 (10.39 cM)5
    3813501  NM_001001334.21  NP_001001334.21 
     167530165 
    chicken
    (Gallus gallus)
    Aves SPAG61 sperm associated antigen 6 82.25(n)
    85.8(a)
      420505  NM_001199586.1  NP_001186515.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPAG66
    --
    89(a)
    1 ↔ 1
    6(16249765-16303790)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.164642 Xenopus laevis transcribed sequence with moderate similarity more 81.21(n)    CF519997.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.175662 Transcribed sequence with moderate similarity to protein more 71.49(n)    57072782 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    57(a)
    1 ↔ 1
    Group14.2(77804-85148)


    ENSEMBL Gene Tree for SPAG6 (if available)
    TreeFam Gene Tree for SPAG6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPAG6 gene
    KPNA32  KPNA72  KPNA52  KPNA22  KPNA42  KPNA12  KPNA62  

    SPAG6 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

    10/1018 NCBI SNPs in SPAG6 are shown (see all 1018    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1895197711,2
    --22632558(+) AAAATA/GAAGAG 4 -- us2k10--------
    rs1417988151,2
    --22632911(+) GGGGA-/TTTTTTT 4 -- us2k10--------
    rs1922170661,2
    --22632923(+) TTCATA/CATTCA 4 -- us2k10--------
    rs1849001101,2
    --22633091(+) TAAGTA/GAAAAG 4 -- us2k10--------
    rs127823221,2
    C--22633193(+) CTTCTC/ATCTGA 4 -- us2k1 trp31Minor allele frequency- A:0.00NA 2
    rs1888325491,2
    --22633212(+) CCATTC/TCCCAA 4 -- us2k10--------
    rs755495601,2
    C,F,--22633394(+) NNNNCG/AGCTAT 4 -- us2k11Minor allele frequency- A:0.02NA 120
    rs122617581,2
    C,H--22633460(+) TGACAA/GCTGTC 4 -- us2k14Minor allele frequency- G:0.00NS EA 416
    rs37616731,2
    C,F,H,--22633478(+) CAACTG/AGTATA 4 -- us2k110Minor allele frequency- A:0.03NS EA NA 1460
    rs1812630981,2
    --22633485(+) TATATA/CGTTTT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPAG6 (22634399 - 22743153 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SPAG6: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPAG6
    DNA2.0 Custom Variant and Variant Library Synthesis for SPAG6

    (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

    SPAG6 for disorders           About GeneDecksing

    OMIM gene information: 605730    OMIM disorders: --

    5 diseases for SPAG6:    About MalaCards
    infertility    male infertility    hydrocephalus    alzheimer's disease
    malaria

    Human Genome Epidemiology (HuGE) Navigator: SPAG6 (1 document)

    Export disorders for SPAG6 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 SPAG6 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with SPAG6)
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    1. cDNA cloning and characterization of a human sperm antigen (SPAG6) with homology to the product of the Chlamydomonas PF16 locus. (PubMed id 10493827)1, 2, 3, 9 Neilson L.I.... Strauss J.F. III (1999)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    5. 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)
    6. Transcriptional regulation of an axonemal central apparatus gene, sperm-associated antigen 6, by a SRY-related high mobility group transcription factor, S-SOX5. (PubMed id 20668334)1 Kiselak E.A.... Zhang Z. (2010)
    7. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    8. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9576 HGNC: 11215 AceView: SPAG6 Ensembl:ENSG00000077327 euGenes: HUgn9576
    ECgene: SPAG6 H-InvDB: SPAG6

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPAG6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPAG6 gene:
    Search GeneIP for patents involving SPAG6

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