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SPATA8 Gene

protein-coding   GIFtS: 39
GCID: GC15P097326

Spermatogenesis Associated 8

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(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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Spermatogenesis Associated 81 2
Spermatogenesis-Related Protein 82 3
SRG82 5
Spermatogenesis-Associated Protein 82

External Ids:    HGNC: 286761   Entrez Gene: 1459462   Ensembl: ENSG000001855947   OMIM: 6139485   UniProtKB: Q6RVD63   
ORGUL members:         

Export aliases for SPATA8 gene to outside databases

Previous GC identifers: GC15P095128 GC15P073456


(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 SPATA8 Gene:
SPATA8 (spermatogenesis associated 8) is a protein-coding 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_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPATA8 gene promoter:
         Oct-B1   GR   oct-B3   oct-B2   AML1a   GR-beta   HTF   AREB6   POU2F1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPATA8 promoter sequence
   Search Chromatin IP Primers for SPATA8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPATA8


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

Entrez Gene cytogenetic band: 15q26.2   Ensembl cytogenetic band:  15q26.2   HGNC cytogenetic band: 15q26

SPATA8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPATA8 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P097326:  view genomic region     (about GC identifiers)

Start:
97,326,619 bp from pter      End:
97,328,845 bp from pter
Size:
2,227 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, 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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SPAT8_HUMAN, Q6RVD6 (See protein sequence)
Recommended Name: Spermatogenesis-associated protein 8  
Size: 105 amino acids; 11727 Da
Secondary accessions: Q2KJ07
Alternative splicing: 2 isoforms:  Q6RVD6-1   Q6RVD6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPATA8: NX_Q6RVD6

Explore proteomics data for SPATA8 at MOPED


See SPATA8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_775770.1  
ENSEMBL proteins: 
 ENSP00000328149   ENSP00000453026  

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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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ProtoNet protein and cluster: Q6RVD6


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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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Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for SPATA8

miRNA
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2 qRT-PCR Assays for microRNAs that regulate SPATA8:
hsa-miR-539 hsa-miR-431
SwitchGear 3'UTR luciferase reporter plasmidSPATA8 3' UTR sequence
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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 COMPARTMENTS: 

CompartmentConfidence
cytosol2
extracellular2
nucleus2

(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 SPATA8
Interactions:

    Search GeneGlobe Interaction Network for SPATA8

1 Interacting protein for SPATA8 (Q6RVD63) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
RBPMSQ930623I2D: score=1 
About this table

(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
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Browse Tocris compounds for SPATA8 (SPAT8)



(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 SPATA8 gene: 
NM_173499.3  

Unigene Cluster for SPATA8:

Spermatogenesis associated 8
Hs.326528  [show with all ESTs]
Unigene Representative Sequence: BC112390
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000328504(uc002bue.3) ENST00000561002 ENST00000558553 ENST00000560327

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Inhib. RNA
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Additional mRNA sequence: 

AY489187.1 BC033979.2 BC066292.1 BC112390.1 

4 DOTS entries:

DT.209645  DT.92012669  DT.100748414  DT.100748413 

Selected AceView cDNA sequences (see all 46):

AA399652 AW274919 AW293729 BM553033 BC033979 AI916811 BI825473 AY489187 
BI825859 BI825151 AA861167 BC066292 AI917479 BI831201 BG722505 AA292849 
BI461476 AI190889 BI559387 AA398750 AI953138 AI014962 BI827393 NM_173499 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for SPATA8    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c
SP1:                    -                           
SP2:                                                
SP3:              -     -                           


ECgene alternative splicing isoforms for SPATA8

(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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SPATA8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AACTTTTCTG
SPATA8 Expression
About this image

SPATA8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SPATA8 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.326528

UniProtKB/Swiss-Prot: SPAT8_HUMAN, Q6RVD6
Tissue specificity: Expressed at high levels in adult testis, at moderate levels in sperm and at low levels in
fetal testis. Not detected in other tissues

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

Orthologs for SPATA8 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia SPATA81 spermatogenesis associated 8 99.37(n)
98.1(a)
  736234  XM_001135799.2  XP_001135799.1 


ENSEMBL Gene Tree for SPATA8 (if available)
TreeFam Gene Tree for SPATA8 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for SPATA8 gene

Find genes that share paralogs with SPATA8           About GenesLikeMe


1 Pseudogenes.org Pseudogene for SPATA8
PGOHUM00000262114


(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 SPATA8 (see all 30)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1860481391,2
--97328689(+) AGATTC/TTCTTC 1 -- ut310--------
rs585246871,2
C--97328855(+) TTTTT-/T/TTT 
        
GTTTG
2 -- int1 cds10--------
rs2018668541,2
--97328862(+) TTTTT-/GTTTTT 1 -- int10--------
rs2004389651,2
--97328863(+) TTTTT-/GTTTTT 1 -- int10--------
rs129040271,2
C,F--97328866(+) TTTTTG/TTTTGT 1 -- int15Minor allele frequency- T:0.22NA CSA 9
rs1131373071,2
C--97328866(+) TTTTTG/-TTTGT 1 -- int11Minor allele frequency- -:0.50CSA 2
rs3690606491,2
C--97328867(+) TTTTT-/G/GT  
        
TTGTT
1 -- int10--------
rs759915311,2
--97328870(+) TTTTTG/TTTTGT 1 -- int10--------
rs1482847701,2
--97328878(+) TGTTT-/GTTTTT 1 -- int10--------
rs2018295581,2
C--97328878(+) TGTTTG/TTTTTT 1 -- int10--------

HapMap Linkage Disequilibrium report for SPATA8 (97326619 - 97328845 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for SPATA8:    About this table    
Variant IDTypeSubtypePubMed ID
nsv904533CNV Loss21882294
nsv522924CNV Gain19592680

Human Gene Mutation Database (HGMD): SPATA8
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing SPATA8
DNA2.0 Custom Variant and Variant Library Synthesis for SPATA8

(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: 613948    OMIM disorders: --


Find genes that share disorders with SPATA8           About GenesLikeMe

Genetic Association Database (GAD): SPATA8

Export disorders for SPATA8 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 SPATA8 gene integrated from 10 sources:
(articles sorted by number of sources associating them with SPATA8)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PubMed id 18951430)1, 4 Anney R.J....Gill M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
  2. Molecular cloning and characterization of a novel human testis- specific gene by use of digital differential display. (PubMed id 16809841)1, 2 Nie D. and Xiang Y. (J. Genet. 2006)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
  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. (Genomics 2007)
  6. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)
  7. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. (PubMed id 17052657)4 Fung H.C....Singleton A. (Lancet Neurol 2006)
  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)

(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: 145946 HGNC: 28676 AceView: MGC44294 Ensembl:ENSG00000185594 euGenes: HUgn145946
ECgene: SPATA8 H-InvDB: SPATA8

(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 SPATA8 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 SPATA8 gene:
Search GeneIP for patents involving SPATA8

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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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 genOway: Develop your customized and physiologically relevant rodent model for SPATA8
  Search antibodies-online for antibodies for SPATA8
 antibodies-online kits for SPATA8 (2 products)
  Search antibodies-online for peptides for SPATA8
 antibodies-online proteins for SPATA8 (2 products)
       
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