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SPANXA2 Gene

protein-coding   GIFtS: 33
GCID: GC0XP140677

SPANX Family, Member A2


(Previous symbol: SPANX)
  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
SPANX Family, Member A21 2     SPANXA2 3
SPANX1 2     SPANX Family Member A2 3
Cancer/Testis Antigen 11.12 3     Sperm Protein Associated With The Nucleus On The X Chromosome A2
Nuclear-Associated Protein SPAN-Xa2 3     Sperm Protein Associated With The Nucleus, X Chromosome, Family Member A22
CT11.12 3     SPAN-X3
SPANX-A2 3     

External Ids:    HGNC: 143281   Entrez Gene: 7287122   Ensembl: ENSG000002039267   OMIM: 3004935   UniProtKB: Q9NS263   

Export aliases for SPANXA2 gene to outside databases

Previous GC identifers: GC0XU990342 GC0XM139366 GC0XM139367 GC0XM140397 GC0XM140500 GC0XP140506


(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 SPANXA2 Gene:
Temporally regulated transcription and translation of several testis-specific genes is required to initiate the
series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature
spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a
cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize
to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with
SPANX family member A1 and appears to be a duplication of that locus. The protein encoded by this gene targets to
the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its
association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical
marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis.
(provided by RefSeq, Jul 2008)

GeneCards Summary for SPANXA2 Gene:
SPANXA2 (SPANX family, member A2) is a protein-coding gene. Diseases associated with SPANXA2 include intrahepatic cholangiocarcinoma, and male germ cell tumor. An important paralog of this gene is SPANXD.




(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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Regulatory elements:
   Regulatory transcription factor binding sites in the SPANXA2 gene promoter:
         Max1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPANXA2 promoter sequence
   Search Chromatin IP Primers for SPANXA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPANXA2


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

Entrez Gene cytogenetic band: Xq27.1   Ensembl cytogenetic band:  Xq27.2   HGNC cytogenetic band: Xq27.2

SPANXA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPANXA2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP140677:  view genomic region     (about GC identifiers)

Start:
140,677,562 bp from pter      End:
140,678,899 bp from pter
Size:
1,338 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: SPNXA_HUMAN, Q9NS26 (See protein sequence)
Recommended Name: Sperm protein associated with the nucleus on the X chromosome A  
Size: 97 amino acids; 11038 Da
Developmental stage: Detected in round and elongating spermatids
Secondary accessions: Q5JWI0

Explore the universe of human proteins at neXtProt for SPANXA2: NX_Q9NS26

Explore proteomics data for SPANXA2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPANXA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_663695.1  
    ENSEMBL proteins: 
     ENSP00000359549  

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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:
     IPR010007 SPANX_prot

    Graphical View of Domain Structure for InterPro Entry Q9NS26

    ProtoNet protein and cluster: Q9NS26

    UniProtKB/Swiss-Prot: SPNXA_HUMAN, Q9NS26
    Similarity: Belongs to the SPAN-X family


    SPANXA2 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:
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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
    SPNXA_HUMAN, Q9NS26: Cytoplasm. Nucleus. Note=Associated with nuclear craters
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    SPANXA2 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 SPANXA2
    Interactions:

        Search GeneGlobe Interaction Network for SPANXA2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007283spermatogenesis TAS10906052

    SPANXA2 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
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    Browse Tocris compounds for SPANXA2 (SPNXA)



    (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 SPANXA2 gene: 
    NM_145662.2  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000370518(uc004fbo.3)
    miRNA
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    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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    SPANXA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SPANXA2 Expression
    About this image

    SPANXA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPANXA2 Protein Expression

    UniProtKB/Swiss-Prot: SPNXA_HUMAN, Q9NS26
    Tissue specificity: Detected in testis and sperm

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

    Orthologs for SPANXA2 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia --
    Pan troglodytes SPANX A/D member 3 (LOC493983), mR...
    57(a)
    1 → many
    GL393313.1(41016-41996)


    ENSEMBL Gene Tree for SPANXA2 (if available)
    TreeFam Gene Tree for SPANXA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPANXA2 gene
    SPANXA11 2  SPANXC1 2  SPANXD1 2  SPANXB11 2  SPANXB22  
    11 SIMAP similar genes for SPANXA2 using alignment to 4 protein entries:     SPNXA_HUMAN (see all proteins):
    SPANXA1    SPANXD    SPANXE    SPANXC    SPANXB1    SPANXB2
    SPANXF1    SPANXN5    SPANXN1    SPANXN2    SPANXN3

    SPANXA2 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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    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SPANXA2 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv469528CNV Loss16826518
    nsv470367CNV Loss18288195
    nsv470369CNV Gain18288195
    nsv9983CNV Gain18304495
    nsv471606CNV Gain15918152
    esv2752315CNV Gain17911159
    esv26320CNV Gain+Loss19812545
    nsv516880CNV Gain+Loss19592680
    essv9625CNV CNV17122850
    nsv515177CNV Complex21397061

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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: 300493    OMIM disorders: --

    7 diseases for SPANXA2:    
    About MalaCards
    intrahepatic cholangiocarcinoma    male germ cell tumor    cholangiocarcinoma    germ cell tumors
    infertility    prostate cancer    prostatitis


    SPANXA2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPANXA2
    Human Genome Epidemiology (HuGE) Navigator: SPANXA2 (1 document)

    Export disorders for SPANXA2 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 SPANXA2 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SPANXA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SPANX gene variation in fertile and infertile males. (PubMed id 20073942)1, 4 Hansen S....Carrell D. (Syst Biol Reprod Med 2010)
    2. Spermatid-specific expression of the novel X-linked gene product SPAN-X localized to the nucleus of human spermatozoa. (PubMed id 10906052)1, 2 Westbrook V.A.... Herr J.C. (Biol. Reprod. 2000)
    3. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (Biochem. Biophys. Res. Commun. 2006)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    5. Dynamic structure of the SPANX gene cluster mapped to the prostate cancer susceptibility locus HPCX at Xq27. (PubMed id 16251457)2 Kouprina N.... Larionov V. (Genome Res. 2005)
    6. 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)
    7. The human SPANX multigene family: genomic organization, alignment and expression in male germ cells and tumor cell lines. (PubMed id 12758128)2 Zendman A.J.... van Muijen G.N.P. (Gene 2003)
    8. 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)
    9. Differential nuclear localization of the cancer/testis-associated protein, SPAN-X/CTp11, in transfected cells and in 50% of human spermatozoa. (PubMed id 11133693)1 Westbrook V.A....Herr J.C. (Biol. Reprod. 2001)

    (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: 728712 HGNC: 14328 Ensembl:ENSG00000203926 euGenes: HUgn728712 ECgene: SPANXA2
    H-InvDB: SPANXA2

    (According to HUGE)
    About This Section

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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 SPANXA2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SPANXA2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPANXA2 gene:
    Search GeneIP for patents involving SPANXA2

    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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