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SPAG11A Gene

protein-coding   GIFtS: 39
GCID: GC08P007705

Sperm Associated Antigen 11A

  See related diseases
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 11A1 2     EDDM2A2
Epididymal Protein 2A1 2     Sperm-Associated Antigen 11A2
Human Epididymis-Specific Protein 22 3     EP23
Sperm Antigen HE22 3     He23
HE22 3     Protein EP23

External Ids:    HGNC: 333421   Entrez Gene: 6534232   Ensembl: ENSG000001782877   UniProtKB: Q6PDA73   

Export aliases for SPAG11A gene to outside databases

Previous GC identifer: GC08P007745


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SPAG11A Gene:
SPAG11A (sperm associated antigen 11A) is a protein-coding gene. Diseases associated with SPAG11A include choroid plexus carcinoma, and hepatitis e. An important paralog of this gene is SPAG11B.


(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:
NC_000008.11  NT_077531.5  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPAG11A gene promoter:
         AP-2rep   C/EBPbeta   RREB-1   RORalpha1   CREB   Zic1   deltaCREB   Pax-4a   Zic3   Hlf   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SPAG11A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPAG11A


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

SPAG11A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPAG11A gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P007705:  view genomic region     (about GC identifiers)

Start:
7,705,398 bp from pter      End:
7,726,389 bp from pter
Size:
20,992 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SG11A_HUMAN, Q6PDA7 (See protein sequence)
Recommended Name: Sperm-associated antigen 11A precursor  
Size: 123 amino acids; 13842 Da
Sequence caution: Sequence=AC130365; Type=Erroneous termination; Positions=104; Note=Translated as Glu;
Secondary accessions: A6NIY0
Alternative splicing: 4 isoforms:  Q6PDA7-1   Q6PDA7-2   Q6PDA7-3   Q6PDA7-4   (Ref.1 (AAF37188) and Ref.2 (AAG21884) sequences are in conflict in position: 76:L->P. Variant in position: 78:I->M (in dbSNP:rs3177011))

Explore the universe of human proteins at neXtProt for SPAG11A: NX_Q6PDA7

Explore proteomics data for SPAG11A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn29

  • See SPAG11A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001075021.2  
    ENSEMBL proteins: 
     ENSP00000382990   ENSP00000416991   ENSP00000316012   ENSP00000297496   ENSP00000436043  
     ENSP00000434968   ENSP00000394885   ENSP00000316648  

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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 Q6PDA7

    ProtoNet protein and cluster: Q6PDA7

    1 Blocks protein domain: IPB001855 Beta defensin

    UniProtKB/Swiss-Prot: SG11A_HUMAN, Q6PDA7
    Similarity: Belongs to the SPAG11 family


    SPAG11A for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPAG11A
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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
    SG11A_HUMAN, Q6PDA7: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1
    lysosome1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    SPAG11A for ontologies           About GeneDecksing


    (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 SPAG11A
    Interactions:

        Search GeneGlobe Interaction Network for SPAG11A

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006952defense response ----

    SPAG11A for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPAG11A (SG11A)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SPAG11A gene: 
    NM_001081552.2  

    Unigene Cluster for SPAG11A:

    Sperm associated antigen 11A
    Hs.559506  [show with all ESTs]
    Unigene Representative Sequence: BU568707
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400125(uc003wrw.3) ENST00000434307(uc003wrx.3 uc003wry.3)
    ENST00000326558(uc003wrz.3) ENST00000351436(uc003wsa.3) ENST00000528033
    ENST00000525884(uc003wsb.3) ENST00000454911 ENST00000326625
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    Additional mRNA sequence: 

    AF168618.1 AF168619.1 AF168620.1 AF170797.1 BC058833.1 BC125141.1 

    5 DOTS entries:

    DT.120629636  DT.120629667  DT.92419128  DT.412709  DT.99997641 

    GeneLoc Exon Structure


    (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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    SPAG11A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCAACGAT
    SPAG11A Expression
    About this image

    SPAG11A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPAG11A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.559506
        Custom PCR Arrays for SPAG11A
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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)
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      --

    ENSEMBL Gene Tree for SPAG11A (if available)
    TreeFam Gene Tree for SPAG11A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPAG11A gene
    SPAG11B2  
    Selected SIMAP similar genes for SPAG11A using alignment to 5 protein entries:     SG11A_HUMAN (see all proteins) (see all similar genes):
    SPAG11B    KDM5B    NF2    TNFRSF17    ZNF527    ASB11
    MPP4    ZNF738    MED15    TSEN2    ZNF564    TCF4
    ZNF737    UTY    AURA2    FAM175A    FAT3    LYRM4

    SPAG11A for paralogs           About GeneDecksing



    (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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    Selected SNPs for SPAG11A (see all 111)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2006735141,2
    C--7703739(+) TAAATA/TATTTC 1 -- us2k10--------
    rs2015092241,2
    C--7703763(+) GACTTA/CAAAGA 1 -- us2k10--------
    rs2009596751,2
    --7704112(+) CTTGA-/CTGT  
            
    CTATG
    1 -- us2k10--------
    rs1996736171,2
    --7705547(+) TTCTGA/GCTTGC 1 -- ut510--------
    rs2008434251,2
    C--7705673(+) CTCTCC/TGCAAT 1 -- int10--------
    rs2005832731,2
    --7705679(+) GCAATG/TGTCAT 1 -- int10--------
    rs2000135441,2
    C--7706187(+) CATCCG/TCAGAC 1 -- int10--------
    rs2020560681,2
    C--7706329(+) TGAAAC/TGGGAC 2 R W mis10--------
    rs1922499951,2
    --7706626(+) ACACCA/TGTAAT 1 -- int10--------
    rs2002006461,2
    C--7709514(+) TTATGC/TCTGGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for SPAG11A (7705398 - 7726389 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPAG11A (see all 49):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv26n31CNV Duplication19718026
    nsv471458CNV Duplication19718026
    nsv890270CNV Loss21882294
    nsv890300CNV Loss21882294
    dgv7694n71CNV Loss21882294
    esv2752266CNV Loss17911159
    dgv7664n71CNV Loss21882294
    nsv508496CNV Loss20534489
    dgv1170n67CNV Loss20364138
    dgv7670n71CNV Loss21882294

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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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    5 diseases for SPAG11A:    
    About MalaCards
    choroid plexus carcinoma    hepatitis e    epididymitis    choroiditis
    hepatitis

    1 disease from the University of Copenhagen DISEASES database for SPAG11A:
    Choroid plexus carcinoma

    SPAG11A for disorders           About GeneDecksing


    Export disorders for SPAG11A 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 SPAG11A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SPAG11A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)1, 2 Nusbaum C....Lander E.S. (Nature 2006)
    2. Organization of the human gene encoding the epididymis-specific EP2 protein variants and its relationship to defensin genes. (PubMed id 11259252)1, 2 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 Hamil K.G....Hall S.H. (Endocrinology 2000)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. Molecular cloning and characterization of a novel human sperm antigen (HE2) specifically expressed in the proximal epididymis. (PubMed id 8167223)1 Osterhoff C.... Ivell R. (Biol. Reprod. 1994)

    (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: 653423 HGNC: 33342 Ensembl:ENSG00000178287 euGenes: HUgn653423 ECgene: SPAG11A
    H-InvDB: SPAG11A

    (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 SPAG11A 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 SPAG11A gene:
    Search GeneIP for patents involving SPAG11A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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