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SPAG11B Gene

protein-coding   GIFtS: 44
GCID: GC08M007294

Sperm Associated Antigen 11B

  See SPAG11B-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sperm Associated Antigen 11B1 2     EDDM2B2
EP22 3 5     EP2C2
HE22 3 5     EP2D2
Epididymal Protein 2B1 2     HE2C2
Human Epididymis-Specific Protein 22 3     Sperm-Associated Antigen 11B2
Sperm Antigen HE22 3     He23
SPAG112 5     Protein EP23

External Ids:    HGNC: 145341   Entrez Gene: 104072   Ensembl: ENSG000001648717   OMIM: 6065605   UniProtKB: Q086483   

Export aliases for SPAG11B gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SPAG11B Gene:
This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of
these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the
isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located
on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript
variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences
are encoded by the splice variants. Two additional variants have been described, but their full length sequences
have not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for SPAG11B Gene:
SPAG11B (sperm associated antigen 11B) is a protein-coding gene. Diseases associated with SPAG11B include choroid plexus carcinoma. An important paralog of this gene is SPAG11A.

Gene Wiki entry for SPAG11B Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_023736.18  NT_187570.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPAG11B gene promoter:
         RORalpha1   RREB-1   RelA   CUTL1   Zic3   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPAG11B promoter sequence
   Search Chromatin IP Primers for SPAG11B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPAG11B


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

Entrez Gene cytogenetic band: 8p23.1   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1

SPAG11B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPAG11B gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M007294:  view genomic region     (about GC identifiers)

Start:
7,300,206 bp from pter      End:
7,321,196 bp from pter
Size:
20,991 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SG11B_HUMAN, Q08648 (See protein sequence)
Recommended Name: Sperm-associated antigen 11B precursor  
Size: 103 amino acids; 11431 Da
Secondary accessions: E9PFH0 Q546A0 Q6ZYB2 Q9H4P8 Q9H4P9 Q9H4Q0 Q9H4Q1 Q9H4Q2 Q9NRT3 Q9NRV4
Q9NRV5 Q9NRV6 Q9NRV7 Q9NRV8
Alternative splicing: 6 isoforms:  Q08648-1   Q08648-2   Q08648-3   Q08648-4   Q08648-5   Q08648-6   (Ref.3 (AAG21882) sequence is in conflict in position: 31:H->R)

Explore the universe of human proteins at neXtProt for SPAG11B: NX_Q08648

Explore proteomics data for SPAG11B at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn29

  • See SPAG11B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_057596.1  NP_478107.2  NP_478108.2  NP_478109.1  NP_478110.1  NP_478113.2  NP_478114.2  

    ENSEMBL proteins: 
     ENSP00000437154   ENSP00000432257   ENSP00000352797   ENSP00000354411   ENSP00000297498  
     ENSP00000398550   ENSP00000431230   ENSP00000381480   ENSP00000322591  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007988 Sperm_Ag_HE2

    Graphical View of Domain Structure for InterPro Entry Q08648

    ProtoNet protein and cluster: Q08648

    UniProtKB/Swiss-Prot: SG11B_HUMAN, Q08648
    Similarity: Belongs to the SPAG11 family


    Find genes that share domains with SPAG11B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with SPAG11B           About GenesLikeMe


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SG11B_HUMAN, Q08648: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    lysosome1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS10698202

    Find genes that share ontologies with SPAG11B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPAG11B
    Interactions:

        Search GeneGlobe Interaction Network for SPAG11B

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006952defense response ----
    GO:0007283spermatogenesis TAS8167223
    GO:0042742defense response to bacterium ----

    Find genes that share ontologies with SPAG11B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SPAG11B (SG11B)

    1 Novoseek inferred chemical compound relationship for SPAG11B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nacl 18.3 1 12628001 (1)



    Find genes that share compounds with SPAG11B           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SPAG11B gene (7 alternative transcripts): 
    NM_016512.3  NM_058200.2  NM_058201.2  NM_058202.2  NM_058203.2  NM_058206.3  NM_058207.2  

    Unigene Cluster for SPAG11B:

    Sperm associated antigen 11B
    Hs.2717  [show with all ESTs]
    Unigene Representative Sequence: BM563643
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000528943 ENST00000528767 ENST00000359758(uc003wrg.1) ENST00000361111(uc003wrh.1)
    ENST00000297498(uc003wrk.3 uc003wrl.3) ENST00000458665(uc003wrj.3)
    ENST00000528168(uc003wri.3) ENST00000398462 ENST00000317900(uc003wrm.3)

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    Additional mRNA sequence: 

    AF168616.1 AF168617.1 AJ628017.1 AJ635328.1 

    7 DOTS entries:

    DT.412709  DT.120629680  DT.99934985  DT.100755065  DT.120629636  DT.99997641  DT.120629621 

    Selected AceView cDNA sequences (see all 33):

    NM_058203 AJ628017 NM_058202 NM_058201 NM_058206 NM_058207 AI143942 AJ635328 
    BM563643 AA335809 AF168618 AF168619 AF168617 AF168620 AF170797 NM_058200 
    BX115855 AA335631 BC058833 AW079885 AI150045 BE044355 AA889724 AA460402 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SPAG11B    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
    SP1:                                -                           
    SP2:                                -     -                     
    SP3:                                -     -     -     -         
    SP4:                                                            
    SP5:                                -     -     -               


    ECgene alternative splicing isoforms for SPAG11B

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPAG11B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPAG11B Expression
    About this image


    SPAG11B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Testis (Reproductive System)
    SPAG11B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPAG11B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2717

    UniProtKB/Swiss-Prot: SG11B_HUMAN, Q08648
    Tissue specificity: Specifically expressed in caput and proximal corpus of epididymis. Present in the epididymal
    epithelium and on the sperm surface, with a subacrosomal equatorial distribution on the sperm head

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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)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for SPAG11B gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spag11a5
    Spag11b1
    sperm associated antigen 11A5
    sperm associated antigen 11B1
    71.77(n)1
    61.26(a)1
      8 (10.35 cM)5
    5460381  NM_001286493.11  NP_001273422.11 
     191578865 


    ENSEMBL Gene Tree for SPAG11B (if available)
    TreeFam Gene Tree for SPAG11B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPAG11B gene
    SPAG11A2  
    Selected SIMAP similar genes for SPAG11B using alignment to 4 protein entries:     SG11B_HUMAN (see all proteins) (see all similar genes):
    SPAG11A    KDM5B    NF2    TNFRSF17    ZNF527    ASB11
    MPP4    ZNF738    MED15    TSEN2    ZNF564    TCF4
    ZNF737    UTY    AURA2    FAM175A    FAT3    LYRM4

    Find genes that share paralogs with SPAG11B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    SG11B_HUMAN, Q08648: The microheterogeneity probably represents an allelic variant


    Selected SNPs for SPAG11B (see all 225)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2000990421,2
    C--7309232(+) GGAGA-/CCTGGA 6 -- int10--------
    rs1133851331,2
    C--7316470(+) AATTCC/TAGCAC 4 -- int10--------
    rs558342311,2
    C--7319953(-) GGCTTC/TCTCCA 5 -- int10--------
    rs712677621,2
    C,F--7519086(+) AGCTAC/TGTGAA 2 -- ds50013Minor allele frequency- T:0.33NA 6
    rs1899914951,2
    --7519473(+) GTCCAC/TGGAGC 2 -- ut310--------
    rs27400471,2
    F,A--7519520(-) ACCCAC/GGGTCT 2 -- ut313Minor allele frequency- G:0.40NA MN 188
    rs1828939401,2
    --7519520(+) AGACCC/GTGGGT 2 -- ut310--------
    rs2008906431,2
    --7519709(+) GCCTGA/GCAATG 2 -- int10--------
    rs1998259861,2
    C--7520454(+) CTTCCA/GTGTTT 2 -- int10--------
    rs1161027751,2
    C--7520548(+) TTACAA/GGTGGA 2 -- int10--------

    HapMap Linkage Disequilibrium report for SPAG11B (7300206 - 7321196 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPAG11B (see all 72):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2736558CNV Deletion23290073
    dgv26n31CNV Duplication19718026
    nsv471458CNV Duplication19718026
    dgv25n31CNV Duplication19718026
    nsv890270CNV Loss21882294
    nsv890300CNV Loss21882294
    dgv7694n71CNV Loss21882294
    dgv7664n71CNV Loss21882294
    nsv508496CNV Loss20534489
    dgv7680n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 606560    OMIM disorders: --

    1 disease for SPAG11B:    
    About MalaCards
    choroid plexus carcinoma

    1 disease from the University of Copenhagen DISEASES database for SPAG11B:
    Choroid plexus carcinoma

    Find genes that share disorders with SPAG11B           About GenesLikeMe


    Export disorders for SPAG11B 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)
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    PubMed articles for SPAG11B gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with SPAG11B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a novel human sperm antigen (HE2) specifically expressed in the proximal epididymis. (PubMed id 8167223)1, 2, 3, 9 Osterhoff C.... Ivell R. (Biol. Reprod. 1994)
    2. Organization of the human gene encoding the epididymis-specific EP2 protein variants and its relationship to defensin genes. (PubMed id 11259252)1, 2, 9 Frohlich O.... Young L.G. (Biol. Reprod. 2001)
    3. HE2 beta and HE2 gamma, new members of an epididymis-specific family of androgen-regulated proteins in the human. (PubMed id 10698202)1, 2, 9 Hamil K.G....Hall S.H. (Endocrinology 2000)
    4. Cloning and analysis of mRNAs expressed specifically in the human epididymis. (PubMed id 1693137)1, 3 Kirchhoff C....Kirchloff C. (Int. J. Androl. 1990)
    5. Differential expression and antibacterial activity of epididymis protein 2 isoforms in the male reproductive tract of human and rhesus monkey (Macaca mulatta). (PubMed id 15229135)1, 9 Avellar M.C....Hall S.H. (Biol. Reprod. 2004)
    6. Novel partners of SPAG11B isoform D in the human male reproductive tract. (PubMed id 19535787)1, 9 Radhakrishnan Y....French F.S. (Biol. Reprod. 2009)
    7. Novel antimicrobial peptide of human epididymal duct origin. (PubMed id 12193388)1, 9 von Horsten H.H....Kirchhoff C. (Biol. Reprod. 2002)
    8. Multiple promoter and splicing mRNA variants of the epididymis-specific gene EP2. (PubMed id 10819450)1, 9 FrAPhlich O....Young L.G. (J. Androl. 2000)
    9. Region-specific variation of gene expression in the human epididymis as revealed by in situ hybridization with tissue-specific cDNAs. (PubMed id 8418812)1, 9 Krull N.... Kirchhoff C. (Mol. Reprod. Dev. 1993)
    10. Verification of male infertility biomarkers in seminal plasma by multiplex selected reaction monitoring assay. (PubMed id 21933954)1 Drabovich A.P....Diamandis E.P. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10407 HGNC: 14534 AceView: SPAG11.1 Ensembl:ENSG00000164871 euGenes: HUgn10407
    ECgene: SPAG11B H-InvDB: SPAG11B

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SPAG11B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPAG11B gene:
    Search GeneIP for patents involving SPAG11B

    GeneCards and IP:
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