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

SPATA16 Gene

protein-coding   GIFtS: 47
GCID: GC03M172607

spermatogenesis associated 16

 Explore 4 diseases affiliated with
SPATA16 via our new
 Human Malady Compendium 
Biological research products
for SPATA16
    

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

Aliases
Spermatogenesis Associated 161 2
NYD-SP121 2
Testis Development Protein NYD-SP122 3
SPGF62
Spermatogenesis-Associated Protein 162
Testis-Specific Golgi Protein2

External Ids:    HGNC: 299351   Entrez Gene: 838932   Ensembl: ENSG000001449627   OMIM: 6098565   UniProtKB: Q9BXB73   

Export aliases for SPATA16 gene to outside databases

Previous GC identifers: GC03M174090 GC03M169978


(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 SPATA16:
This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded
protein localizes to the Golgi apparatus and may play a role in spermatogenesis. (provided by RefSeq, May 2010)

UniProtKB/Swiss-Prot: SPT16_HUMAN, Q9BXB7
Function: Involved in the formation of sperm acrosome, which implicated its potential role in spermatogenesis and
sperm-egg fusion




(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_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPATA16 gene promoter:
         Pax-6   Bach2   NF-AT   C/EBPalpha   NF-AT4   NF-AT2   IRF-7A   NF-AT3   Pax-4a   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPATA16 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPATA16

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPATA16


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

Entrez Gene cytogenetic band: 3q26.31   Ensembl cytogenetic band:  3q26.31   HGNC cytogenetic band: 3q26.31

SPATA16 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA16 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M172607:  view genomic region     (about GC identifiers)

Start:
172,607,147 bp from pter      End:
172,859,058 bp from pter
Size:
251,912 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: SPT16_HUMAN, Q9BXB7 (See protein sequence)
Recommended Name: Spermatogenesis-associated protein 16  
Size: 569 amino acids; 65263 Da
Subcellular location: Golgi apparatus. Note=Localized to the perinuclear region
Miscellaneous: Association analysis reveals significant frequency of a synonymous (Ser-225) sequence polymorphism among
clinical groups with different sperm traits: the donor group, which has the highest sperm count and motility level,
has a significant higher polymorphism frequency compared to normal and asthenozoopermia groups
Secondary accessions: Q0R0N4 Q0R0S0 Q0R0W2 Q0R129 Q0R131 Q0R140 Q0R1B8 Q0R1G5 Q0R1I2 Q0R1J6 Q0R1S4
Q0R202 Q0R280 Q0R2F8 Q0R2N6 Q0R2N7 Q0R2R0 Q0R2R1 Q0R2S3 Q0R2S4 Q0R2S5 Q0R2T4 Q0R2T7 Q0R2U2 Q0R2U8
Q0R2U9 Q0R2V5 Q0R2V7 Q8NE67

Explore the universe of human proteins at neXtProt for SPATA16: NX_Q9BXB7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BXB7

  • SPATA16 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_114161.3  
    ENSEMBL proteins: 
     ENSP00000341765  

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    Uscn Proteins for SPATA16

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--


    SPATA16 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

    SPATA16 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR011990 TPR-like_helical

    Graphical View of Domain Structure for InterPro Entry Q9BXB7

    ProtoNet protein and cluster: Q9BXB7

    UniProtKB/Swiss-Prot: SPT16_HUMAN, Q9BXB7
    Similarity: Belongs to the SPATA16 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: SPT16_HUMAN, Q9BXB7
    Function: Involved in the formation of sperm acrosome, which implicated its potential role in spermatogenesis and
    sperm-egg fusion

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPATA16
    1 QIAGEN miScript miRNA Assays for microRNA that regulate SPATA16:
    hsa-miR-137
    SwitchGear 3'UTR luciferase reporter plasmidSPATA16 3' UTR sequence
    Inhib. RNA
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    (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 SPATA16

    1 Interacting protein for SPATA16 (Q9BXB72) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    --P310162MINT-8107267
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEA--
    GO:0030154cell differentiation IEA--


    SPATA16 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 SPATA16
    Search CenterWatch for drugs/clinical trials and news about SPATA16 / SPT16 

    (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 SPATA16 gene: 
    NM_031955.5  

    Unigene Cluster for SPATA16:

    Spermatogenesis associated 16
    Hs.444236  [show with all ESTs]
    Unigene Representative Sequence: NM_031955
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000351008(uc003fin.4)

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SPATA16:
    hsa-miR-137
    SwitchGear 3'UTR luciferase reporter plasmidSPATA16 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPATA16 (see all 4)
    OriGene shRNA RFP: SPATA16
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPATA16
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPATA16
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPATA16

    Additional cDNA sequence: 

    AF345909.2 AF404758.1 AK093041.1 BC034496.2 

    4 DOTS entries:

    DT.100017336  DT.100744575  DT.100699380  DT.91924658 

    24/26 AceView cDNA sequences (see all 26):

    AA383485 BP370007 AX747878 BC034496 BX281066 AK093041 BG189141 BG722348 
    NM_031955 BM563232 BI829426 AA902823 AF345909 AF404758 BM563796 BI830435 
    BG773156 BP370042 AI476510 BQ429605 BE502467 BF061951 CD358192 AI655299 

    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™, 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

    SPATA16 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTGAGGAAG

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

    About this image
    See SPATA16 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPATA16

    SOURCE GeneReport for Unigene cluster: Hs.444236

    UniProtKB/Swiss-Prot: SPT16_HUMAN, Q9BXB7
    Tissue specificity: Expressed in testis

        SABiosciences Custom PCR Arrays for SPATA16
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPATA16

    (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 chordates.

    Orthologs for SPATA16 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spata161 , 5 spermatogenesis associated 161, 5 81.87(n)1
    79.23(a)1
      3 (10.74 cM)5
    708621  NM_029150.41  NP_083426.11 
     266376205 
    chicken
    (Gallus gallus)
    Aves SPATA161 spermatogenesis associated 16 69.24(n)
    60.53(a)
      429157  XM_426712.3  XP_426712.3 
    lizard
    (Anolis carolinensis)
    Reptilia SPATA166
    --
    74(a)
    1 ↔ 1
    3(6018494-6044968)


    ENSEMBL Gene Tree for SPATA16 (if available)
    TreeFam Gene Tree for SPATA16 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPATA16 gene

    SPATA16 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SPATA16
    PGOHUM00000246932


    (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

    10/4109 NCBI SNPs in SPATA16 are shown (see all 4109    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378531181,2
    Cpathogenic212749814(-) TGCCCG/AGTATG 2 /Q /R mis11Minor allele frequency- A:0.00NA 4550
    rs748902051,2
    F,--169977956(+) TATACA/GTGATT 1 -- ds50013Minor allele frequency- G:0.10WA NA EA 358
    rs98324931,2
    C,F,A,H,--169978499(+) AAAAAC/TGGTGA 1 -- int116Minor allele frequency- T:0.06EA NS WA NA CSA 1866
    rs592043621,2
    F,--169978659(+) TTATCA/GCTTGG 1 -- int13Minor allele frequency- G:0.10WA NA EA 358
    rs788911261,2
    F,--169979644(+) AGAATC/ATTTTT 1 -- int13Minor allele frequency- A:0.09WA NA EA 358
    rs1126525291,2
    C,--169980085(+) ATGGGG/TTTGCA 1 -- int13Minor allele frequency- T:0.08CSA WA 121
    rs98425631,2
    C,F,A,H,--169980145(+) AATTCC/TGCTGA 1 -- int18Minor allele frequency- T:0.07EA NS NA WA CSA 423
    rs761145381,2
    F,--169980824(+) TCCATA/CTTTAA 1 -- int13Minor allele frequency- C:0.10WA NA EA 358
    rs774771031,2
    F,--169981608(+) TCCCCG/TTTGAA 1 -- int13Minor allele frequency- T:0.10WA NA EA 358
    rs758634691,2
    F,--169981962(+) TTTACG/ATAGCT 1 -- int13Minor allele frequency- A:0.10WA NA EA 358

    HapMap Linkage Disequilibrium report for SPATA16 (172607147 - 172857147 bp, first 250kb of SPATA16)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for SPATA16
         1 CNV: 98531
         6 Indels: 79999 80000 91700 91701 91702 79998
    Human Gene Mutation Database (HGMD): SPATA16

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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

    SPATA16 for disorders           About GeneDecksing

    OMIM gene information: 609856   
    OMIM disorders: 102530  
    UniProtKB/Swiss-Prot: SPT16_HUMAN, Q9BXB7
  • Defects in SPATA16 are the cause of spermatogenic failure type 6 (SPGF6) [MIM:102530]; also known as
  • round-headed spermatozoa. An infertility disorder caused by spermatogenesis defects. The most prominent feature is the
    malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal
    nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon. Note=An autosomal recessive variation
    of SPATA16 has been shown to be responsible for the disease in a consanguineous family with members homozygous for the
    variation

    4 diseases for SPATA16:    About MalaCards
    sertoli cell-only syndrome    globozoospermia    male infertility    infertility

    1 disease from the University of Copenhagen DISEASES database for SPATA16:
    Male infertility
    Human Genome Epidemiology (HuGE) Navigator: SPATA16 (1 document)

    Export disorders for SPATA16 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 SPATA16 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with SPATA16)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel human testis-specific Golgi protein, NYD-SP12. (PubMed id 12529416)1, 2, 3, 9 Xu M.... Sha J. (2003)
    2. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. (PubMed id 17847006)1, 2, 3 Dam A.H.... Viville S. (2007)
    3. Rapid Evolution, Genetic Variations, and Functional Association of the Human Spermatogenesis-Related Gene NYD-SP12. (PubMed id 17665087)1, 2 Zhang Q.... Su B. (2007)
    4. A genome-wide search for loci interacting with known p rostate cancer risk-associated genetic variants. (PubMed id 22219177)1 Tao S....Sun J. (2012)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
    7. Gene functional research using polyethylenimine-mediated in vivo gene transfection into mouse spermatogenic cells. (PubMed id 16372119)1 Lu L....Sha J.H. (2006)
    8. 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)
    9. 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)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)

    (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: 83893 HGNC: 29935 AceView: NYD-SP12 Ensembl:ENSG00000144962 euGenes: HUgn83893
    ECgene: SPATA16 H-InvDB: SPATA16

    (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 SPATA16 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 SPATA16 gene:
    Search GeneIP for patents involving SPATA16

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     SwitchGear 3'UTR luciferase reporter plasmids for SPATA16
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