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

SPATA24 Gene

protein-coding   GIFtS: 43
GCID: GC05M138762

spermatogenesis associated 24

 Explore 1 disease affiliated with
SPATA24 via our new
 Human Malady Compendium 
Biological research products
for SPATA24
    

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

Aliases
Spermatogenesis Associated 241 2
CCDC1611 2
T64411 2
Testis Protein T6441 Homolog2 3
Coiled-Coil Domain Containing 1612
Spermatogenesis-Associated Protein 242

External Ids:    HGNC: 273221   Entrez Gene: 2020512   Ensembl: ENSG000001704697   UniProtKB: Q86W543   

Export aliases for SPATA24 gene to outside databases

Previous GC identifer: GC05M133922


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

UniProtKB/Swiss-Prot: SPA24_HUMAN, Q86W54
Function: Binds DNA with high affinity but does not bind to TATA boxes. Synergises with GMNN and TBP in activation of
TATA box-containing promoters and with GMNN and TBPL1 in activation of the NF1 TATA-less promoter. May play a role in
cytoplasm movement and removal during spermiogenesis (By similarity)




(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_000005.9  NC_018916.1  NT_034772.6  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SPATA24
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SPATA24

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPATA24


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

Entrez Gene cytogenetic band: 5q31.2   Ensembl cytogenetic band:  5q31.2   HGNC cytogenetic band: 5q31.2

SPATA24 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA24 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M138762:  view genomic region     (about GC identifiers)

Start:
138,732,252 bp from pter      End:
138,739,777 bp from pter
Size:
7,526 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: SPA24_HUMAN, Q86W54 (See protein sequence)
Recommended Name: Spermatogenesis-associated protein 24  
Size: 205 amino acids; 23587 Da
Subunit: Homodimer. Interacts with CBX3, CBX5, GMNN, GTF2B, TBPL1 and the polycomb proteins PHCF2, RNF2 and SCMH1 but
not with CBX1 or PCGF2 (By similarity)
Subcellular location: Cytoplasm. Nucleus, nucleolus. Nucleus, nucleoplasm. Note=Associated with chromatin (By
similarity)
Alternative splicing: 2 isoforms:  Q86W54-1   Q86W54-2   

Explore the universe of human proteins at neXtProt for SPATA24: NX_Q86W54

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86W54

  • SPATA24 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_919272.1  
    ENSEMBL proteins: 
     ENSP00000302917   ENSP00000414920   ENSP00000426748   ENSP00000423424   ENSP00000424248  
     ENSP00000400524   ENSP00000423226  

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    Uscn Proteins for SPATA24

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm IEA--
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm IDA--


    SPATA24 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

    ProtoNet protein and cluster: Q86W54

    UniProtKB/Swiss-Prot: SPA24_HUMAN, Q86W54
    Similarity: Belongs to the SPATA24 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: SPA24_HUMAN, Q86W54
    Function: Binds DNA with high affinity but does not bind to TATA boxes. Synergises with GMNN and TBP in activation of
    TATA box-containing promoters and with GMNN and TBPL1 in activation of the NF1 TATA-less promoter. May play a role in
    cytoplasm movement and removal during spermiogenesis (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0042803protein homodimerization activity IEA--


    SPATA24 for ontologies           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 SPATA24

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

    5/13 Interacting proteins for SPATA24 (Q86W543 ENSP000004149204) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBPL1P623803, ENSP000002372644I2D: score=1 STRING: ENSP00000237264
    GTF2BQ004033, ENSP000003595314I2D: score=1 STRING: ENSP00000359531
    GMNNO754963, ENSP000002300564I2D: score=1 STRING: ENSP00000230056
    PHC2Q8IXK03, ENSP000002571184I2D: score=1 STRING: ENSP00000257118
    SCMH1Q96GD33, ENSP000003180944I2D: score=1 STRING: ENSP00000318094
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEA--
    GO:0030154cell differentiation IEA--


    SPATA24 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 SPATA24
    Search CenterWatch for drugs/clinical trials and news about SPATA24 / SPA24 

    (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 SPATA24 gene: 
    NM_194296.1  

    Unigene Cluster for SPATA24:

    Spermatogenesis associated 24
    Hs.373612  [show with all ESTs]
    Unigene Representative Sequence: BQ067292
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302091(uc003lek.2 uc003lel.4) ENST00000450845 ENST00000512761
    ENST00000514983 ENST00000509959 ENST00000451821(uc003lem.2) ENST00000507779


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    Inhib. RNA
    Products:
         
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    Additional cDNA sequence: 

    AK098740.1 BC040037.1 BC050563.1 

    7 DOTS entries:

    DT.105704  DT.91692000  DT.206319  DT.120823307  DT.40120641  DT.75116236  DT.426022 

    24/30 AceView cDNA sequences (see all 30):

    AW663380 CD674203 AA999881 BC050563 BX089584 AK098740 AW015836 BQ426104 
    AA758652 AA922602 BC040037 AI671015 BQ067292 AW082238 BE044369 AI650574 
    BM785501 BI261744 BM746879 AI692888 AI989587 BE743887 BE745685 BP872735 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SPATA24    About this scheme

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


    ECgene alternative splicing isoforms for SPATA24

    (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

    SPATA24 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCAAAACCAA

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

    About this image
    See SPATA24 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPATA24

    SOURCE GeneReport for Unigene cluster: Hs.373612
        SABiosciences Custom PCR Arrays for SPATA24
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA24

    (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 human and mouse.

    Orthologs for SPATA24 gene from 1/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spata241 , 5 spermatogenesis associated 241, 5 91.22(n)1
    90.73(a)1
      18 (19.20 cM)5
    712421  NM_029485.21  NP_083761.11 
     356566905 


    ENSEMBL Gene Tree for SPATA24 (if available)
    TreeFam Gene Tree for SPATA24 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/132 NCBI SNPs in SPATA24 are shown (see all 132    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs780489141,2
    F,--138731958(+) GCCCTG/CCCTGT 2 -- int1 us2k11Minor allele frequency- C:0.03EA 120
    rs65964781,2
    C,--138731979(+) CAAATC/TGAGGT 2 -- us2k1 int112Minor allele frequency- T:0.00NA WA CSA EA 373
    rs1158781751,2
    F,--138732039(+) TTCTCT/CTCCTC 2 -- int1 us2k11Minor allele frequency- C:0.03WA 118
    rs43658361,2
    C,F,A,H,--138732103(+) CAGGTT/ATAACA 2 -- int1 us2k124Minor allele frequency- A:0.42NS EA NA WA CSA 2667
    rs1913430011,2
    --138732132(+) AACTGA/CCTTCC 2 -- us2k1 int10--------
    rs776762411,2
    --138732247(+) GGGGTG/AGAATA 2 -- us2k1 int11Minor allele frequency- A:0.01EA 120
    rs1181790721,2
    F,--138732269(+) CCAGGG/ACTGTT 2 -- us2k1 int11Minor allele frequency- A:0.07EA 120
    rs1436105311,2
    --138732287(+) GAAGGA/GATTAA 2 -- us2k1 int10--------
    rs1480527801,2
    --138732293(+) ATTAAA/TTACCC 2 -- us2k1 int10--------
    rs1417487261,2
    --138732308(+) GAAGCA/GGTGGT 2 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for SPATA24 (138732252 - 138739777 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SPATA24
         1 CNV: 99309
         2 Indels: 12760 46776

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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.)
    About This Section

    SPATA24 for disorders           About GeneDecksing

    1 disease for SPATA24:    About MalaCards
    myelodysplastic syndrome

    Human Genome Epidemiology (HuGE) Navigator: SPATA24 (0 documents)

    Export disorders for SPATA24 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 SPATA24 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SPATA24)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel spermiogenesi s-related gene, T6441, in rat testis. (PubMed id 16146721)1, 3 Song X.X....Liu Y.X. (2006)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. (PubMed id 19240791)1 Graubert T.A....Walter M.J. (2009)
    4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    7. 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. (2004)
    8. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (2004)
    9. (PubMed id 19515240)2 

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 202051 HGNC: 27322 AceView: LOC202051 Ensembl:ENSG00000170469 euGenes: HUgn202051
    ECgene: SPATA24 H-InvDB: SPATA24

    (According to HUGE)
    About This Section
      --

    (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 SPATA24 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPATA24 gene:
    Search GeneIP for patents involving SPATA24

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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