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SPAG8 Gene

protein-coding   GIFtS: 49
GCID: GC09M035797

Sperm Associated Antigen 8

  See SPAG8-related disease
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 81 2     CILD282
Sperm Membrane Protein 12 3     CT1422
Sperm Membrane Protein BS-842 3     SPAG32
HSD-12 3     hSMP-12
SMP12 5     Sperm-Associated Antigen 82
BS-842     SMP-13

External Ids:    HGNC: 141051   Entrez Gene: 262062   Ensembl: ENSG000001370987   OMIM: 6057315   UniProtKB: Q999323   

Export aliases for SPAG8 gene to outside databases

Previous GC identifers: GC09M036120 GC09M035977


(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 SPAG8 Gene:
The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these
antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as
identification of proteins for targeted contraception, are dependent on the identification and characterization
of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from
an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is
localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in
testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during
spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and
cell division. Alternatively spliced variants that encode different protein isoforms have been described but the
full-length sequences of only two have been determined. (provided by RefSeq, Jul 2012)

GeneCards Summary for SPAG8 Gene:
SPAG8 (sperm associated antigen 8) is a protein-coding gene. Diseases associated with SPAG8 include infertility. GO annotations related to this gene include microtubule binding.

UniProtKB/Swiss-Prot: SPAG8_HUMAN, Q99932
Function: May play a role in fertility and microtubule formation through interaction with RANBP9

Gene Wiki entry for SPAG8 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_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPAG8 gene promoter:
         Oct-B1   oct-B3   oct-B2   Lmo2   HNF-1A   Evi-1   AREB6   POU2F1   HNF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPAG8 promoter sequence
   Search Chromatin IP Primers for SPAG8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPAG8


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

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13.3

SPAG8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPAG8 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M035797:  view genomic region     (about GC identifiers)

Start:
35,807,782 bp from pter      End:
35,812,269 bp from pter
Size:
4,488 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: SPAG8_HUMAN, Q99932 (See protein sequence)
Recommended Name: Sperm-associated antigen 8  
Size: 426 amino acids; 44819 Da
Subunit: Interacts with RANBP9
Sequence caution: Sequence=AAB46833.1; Type=Erroneous termination; Positions=427; Note=Translated as stop;
Secondary accessions: B4DY89 E9PDV6 Q12937 Q5TCV8 Q8WWB4
Alternative splicing: 3 isoforms:  Q99932-1   Q99932-2   Q99932-3   (No experimental confirmation available. Ref.3 (BAG63651) sequence is in conflict in position: 438:S->G)

Explore the universe of human proteins at neXtProt for SPAG8: NX_Q99932

Explore proteomics data for SPAG8 at MOPED


See SPAG8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001034681.1  NP_758516.1  

ENSEMBL proteins: 
 ENSP00000340982   ENSP00000418530   ENSP00000418072   ENSP00000379878   ENSP00000417462  
 ENSP00000420413   ENSP00000418215   ENSP00000419280  

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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:
 IPR026124 Sperm-assoc_Ag8

Graphical View of Domain Structure for InterPro Entry Q99932

ProtoNet protein and cluster: Q99932


Find genes that share domains with SPAG8           About GenesLikeMe


(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, 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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Molecular Function:

     UniProtKB/Swiss-Prot Summary: SPAG8_HUMAN, Q99932
Function: May play a role in fertility and microtubule formation through interaction with RANBP9

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
GO:0005515protein binding ----
GO:0008017microtubule binding IEA--
     
Find genes that share ontologies with SPAG8           About GenesLikeMe


Animal Models:
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SwitchGear 3'UTR luciferase reporter plasmidSPAG8 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 UniProtKB/Swiss-Prot
SPAG8_HUMAN, Q99932: Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Acrosomal region of the head of
mature sperm cells
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol2

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001669acrosomal vesicle IEA--
GO:0005634nucleus IEA--
GO:0005737cytoplasm ----
GO:0016020membrane NAS8788182

Find genes that share ontologies with SPAG8           About GenesLikeMe


(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 SPAG8
Interactions:

    Search GeneGlobe Interaction Network for SPAG8

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

5 Interacting proteins for SPAG8 (Q999322, 3 ENSP000003409824) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2872032 I2D: score=3 STRING: ENSP00000357292
RANP628263, ENSP000003961274I2D: score=1 STRING: ENSP00000396127
FHL5ENSP000003260224STRING: ENSP00000326022
FHL2ENSP000003229094STRING: ENSP00000322909
FHL3ENSP000003621074STRING: ENSP00000362107
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Gene Ontology (GO): 3 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--
GO:0032092positive regulation of protein binding IEA--
GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--

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(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 SPAG8



(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 SPAG8 gene (3 alternative transcripts): 
NM_001039592.1  NM_172312.1  NM_012436.2  

Unigene Cluster for SPAG8:

Sperm associated antigen 8
Hs.256747  [show with all ESTs]
Unigene Representative Sequence: S83157
12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000460836 ENST00000463889 ENST00000340291(uc003zye.3) ENST00000475644(uc003zyg.3)
ENST00000489063 ENST00000484764 ENST00000396638 ENST00000497810 ENST00000479751
ENST00000495667 ENST00000472605 ENST00000471631
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hsa-miR-411* hsa-miR-379* hsa-miR-571 hsa-miR-2114*
SwitchGear 3'UTR luciferase reporter plasmidSPAG8 3' UTR sequence
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Additional mRNA sequence: 

AK302313.1 BC019247.1 S83157.1 

8 DOTS entries:

DT.75171707  DT.309222  DT.100816355  DT.95366726  DT.121172731  DT.95366725  DT.75155601  DT.75171708 

Selected AceView cDNA sequences (see all 56):

BG031709 NM_012436 CD517867 BM977676 AW028644 CB305372 CA314354 CR599473 
AI147969 NM_172312 BU684636 AW341854 BI757195 AI028727 AW081055 BM920692 
AI888191 AL565192 S83157 BG714465 CB853172 BF511329 AL533599 BC019247 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for SPAG8 (see all 6)    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c
SP1:                                -     -                             -                                 
SP2:                                -     -                                                               
SP3:                                      -                                                               
SP4:                                                                    -                                 
SP5:                                                                    -     -                           


ECgene alternative splicing isoforms for SPAG8

(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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SPAG8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GACAAATAGG
SPAG8 Expression
About this image

SPAG8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SPAG8 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.256747

UniProtKB/Swiss-Prot: SPAG8_HUMAN, Q99932
Tissue specificity: Expressed in testis (germ cells), but not in liver, kidney, prostate and small intestine

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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 chordates.

Orthologs for SPAG8 gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Spag81 , 5 sperm associated antigen 81, 5 69.48(n)1
60.42(a)1
  4 (23.05 cM)5
4337001  NM_001007463.11  NP_001007464.11 
 436513355 
chicken
(Gallus gallus)
Aves SPAG86
sperm associated antigen 8
40(a)
1 ↔ 1
Z(8954472-8956064)


ENSEMBL Gene Tree for SPAG8 (if available)
TreeFam Gene Tree for SPAG8 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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 SPAG8 (see all 136)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs617585361,2
C,F--35810245(+) ACACCG/AGCAGC 4 /P /L mis13Minor allele frequency- A:0.00NS NA EU 6301
rs1416117231,2
--35810368(+) GGCTTG/TGTACT 2 -- int10--------
rs1119192571,2
C--35810378(+) TTGGCC/TACAGC 2 -- int11Minor allele frequency- T:0.50CSA 2
rs2002931731,2
C--35810459(+) CCCTGC/TTTGTG 4 T A mis10--------
rs1870519251,2
--35810621(+) CTTTAC/TCCAAT 2 -- int10--------
rs3681272171,2
C--35810672(+) GCTTCA/GCGCTT 4 R syn10--------
rs1382852201,2
C,F--35810673(+) CTTCAC/TGCTTC 4 H R mis12Minor allele frequency- T:0.00NA EU 5873
rs771261641,2
C--35810695(+) GTTGGG/AGGGTG 2 -- int12Minor allele frequency- A:0.00WA EU 1439
rs1505162491,2
C--35810722(+) GTTAAA/GAAGGA 2 -- int10--------
rs794583871,2
C,F--35810726(+) AGAAGG/AAGGCC 2 -- int11Minor allele frequency- A:0.06WA 118

HapMap Linkage Disequilibrium report for SPAG8 (35807782 - 35812269 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for SPAG8:    About this table    
Variant IDTypeSubtypePubMed ID
dgv8168n71CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing SPAG8
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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: 605731    OMIM disorders: --

1 disease for SPAG8:    
About MalaCards
infertility


Find genes that share disorders with SPAG8           About GenesLikeMe


Export disorders for SPAG8 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 SPAG8 gene, integrated from 10 sources (see all 20):
(articles sorted by number of sources associating them with SPAG8)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Assignment of chromosomal locus and evidence for alternatively spliced mRNAs of a human sperm membrane protein (hSMP-1). (PubMed id 10500252)1, 2, 3, 9 Wang H.... Koide S.S. (Biochim. Biophys. Acta 1999)
  2. Expression and characterization of a novel human sperm membrane protein. (PubMed id 8788182)1, 2, 3, 9 Liu Q.-Y.... Catterall J.F. (Biol. Reprod. 1996)
  3. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
  4. Sperm membrane protein (hSMP-1) and RanBPM complex in the microtubule-organizing centre. (PubMed id 15014887)1, 2 Tang X.... Wang L.F. (J. Mol. Med. 2004)
  5. 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)
  6. Human sperm membrane protein (hSMP-1): a developmental testis-specific component during germ cell differentiation. (PubMed id 11111873)1, 9 Zhang X.D....Koide S.S. (Arch. Androl. 2000)
  7. Inhibition of mouse acrosome reaction and sperm-zona pellucida binding by anti-human sperm membrane protein 1 antibody. (PubMed id 17187156)1, 9 Cheng G.Y....Xu C. (Asian J. Androl. 2007)
  8. Regulation of the G2/M phase of the cell cycle by sperm associated antigen 8 (SPAG8) protein. (PubMed id 19548270)1, 9 Li R....Wang L.F. (Cell Biochem. Funct. 2009)
  9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  10. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)

(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: 26206 HGNC: 14105 AceView: SPAG8 Ensembl:ENSG00000137098 euGenes: HUgn26206
ECgene: SPAG8 H-InvDB: SPAG8

(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 SPAG8 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 SPAG8 gene:
Search GeneIP for patents involving SPAG8

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, eBioscience, 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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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