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

SPAG4 Gene

protein-coding   GIFtS: 46
GCID: GC20P034203

Sperm Associated Antigen 4

  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)
About This Section

Aliases
Sperm Associated Antigen 41 2     SUN42 3
Acrosomal Protein ACR551 2     SUN Domain-Containing Protein 42 3
Cancer/Testis Antigen 1271 2     CT1272
Sad1 And UNC84 Domain Containing 41 2     Sperm Tail Protein2
Outer Dense Fiber-Associated Protein SPAG42 3     Sperm-Associated Antigen 4 Protein2

External Ids:    HGNC: 112141   Entrez Gene: 66762   Ensembl: ENSG000000616567   OMIM: 6030385   UniProtKB: Q9NPE63   

Export aliases for SPAG4 gene to outside databases

Previous GC identifers: GC20P033962 GC20P034872 GC20P034919 GC20P033667 GC20P030981


(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 SPAG4 Gene:
The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense
fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer
dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail
morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with
an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and
axoneme during sperm tail development. (provided by RefSeq, Jul 2008)

GeneCards Summary for SPAG4 Gene: 
SPAG4 (sperm associated antigen 4) is a protein-coding gene. Diseases associated with SPAG4 include infertility, and epididymitis. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is SUN2.

UniProtKB/Swiss-Prot: SPAG4_HUMAN, Q9NPE6
Function: May assist the organization and assembly of outer dense fibers (ODFs), a specific structure of the sperm
tail




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPAG4 gene promoter:
         Pax-5   MEF-2   Brachyury   ATF-2   AP-4   CRE-BP1   HEN1   MEF-2A   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): SPAG4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPAG4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPAG4


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

Entrez Gene cytogenetic band: 20q11.21   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.2

SPAG4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPAG4 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P034203:  view genomic region     (about GC identifiers)

Start:
34,203,809 bp from pter      End:
34,208,971 bp from pter
Size:
5,163 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPAG4_HUMAN, Q9NPE6 (See protein sequence)
Recommended Name: Sperm-associated antigen 4 protein  
Size: 437 amino acids; 48165 Da
Subunit: Homodimer. Interacts with ODF1. May associate with microtubules (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein (Potential). Cytoplasm, cytoskeleton. Cytoplasm,
cytoskeleton, flagellum axoneme (By similarity). Note=In spermatids, it is localized in the transient manchette
and in the axoneme of elongating spermatids and epididymal sperm (By similarity)
Caution: Although transmembrane domains are strongly predicted, they may rather represent hydrophobic globular
domains associated with microtubules
Sequence caution: Sequence=AAC32052.1; Type=Erroneous gene model prediction;
Secondary accessions: O43648

Explore the universe of human proteins at neXtProt for SPAG4: NX_Q9NPE6

Explore proteomics data for SPAG4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NPE6

  • SPAG4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPAG4 Protein Expression
    REFSEQ proteins: NP_003107.1  
    ENSEMBL proteins: 
     ENSP00000363391   ENSP00000396670   ENSP00000399231  

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    Cloud-Clone Corp. Proteins for SPAG4 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005929cilium IEA--
    GO:0016021integral to membrane IEA--

    SPAG4 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR012919 Sad1_UNC_C

    Graphical View of Domain Structure for InterPro Entry Q9NPE6

    ProtoNet protein and cluster: Q9NPE6

    1 Blocks protein domain: IPB012919 Sad1/UNC-like

    UniProtKB/Swiss-Prot: SPAG4_HUMAN, Q9NPE6
    Similarity: Contains 1 SUN domain


    SPAG4 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPAG4_HUMAN, Q9NPE6
    Function: May assist the organization and assembly of outer dense fibers (ODFs), a specific structure of the sperm
    tail

         Genatlas biochemistry entry for SPAG4:
    spermatid-specific gene 4 interacting specifically with the 27kDa outer dense fiber protein ODF27 in elongation
    spermatid

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity TAS9691178
         
    SPAG4 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPAG4

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for SPAG4 (Q9NPE63 ENSP000003633914) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ODF1Q149903, ENSP000002854024I2D: score=2 STRING: ENSP00000285402
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007283spermatogenesis TAS9691178

    SPAG4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SPAG4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPAG4

    3 Novoseek inferred chemical compound relationships for SPAG4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pentoxifylline 55.4 2 16524250 (2)
    leucine 50.9 5 16211599 (2), 10373309 (1), 11468777 (1)
    tyrosine 19 1 10901439 (1)

    Search CenterWatch for drugs/clinical trials and news about SPAG4

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPAG4 gene: 
    NM_003116.1  

    Unigene Cluster for SPAG4:

    Sperm associated antigen 4
    Hs.123159  [show with all ESTs]
    Unigene Representative Sequence: AF262992
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374273(uc002xdb.1 uc010zvi.1) ENST00000463973 ENST00000462896
    ENST00000454819 ENST00000468248 ENST00000498203 ENST00000430878
    miRNA
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    Additional mRNA sequence: 

    AF262992.1 BC143783.1 

    4 DOTS entries:

    DT.452706  DT.91681448  DT.40117398  DT.100745143 

    24/34 AceView cDNA sequences (see all 34):

    AW021925 CK904360 AI347363 AW513095 BI835507 NM_003116 CB050390 AF262992 
    AI623233 CB050391 CF131128 BM714003 BE207337 BQ639210 BF340750 CD387254 
    AW630046 BU628759 AW615356 AI635301 CD683525 AA742708 AA873389 BI160392 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SPAG4 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13
    SP1:        -     -     -                             -                 -                                                   
    SP2:                                -                 -                 -                                                   
    SP3:                                                  -                 -                                                   
    SP4:                                                  -                                                                     
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for SPAG4

    (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

    SPAG4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGATTTTTG
    SPAG4 Expression
    About this image


    See SPAG4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPAG4

    SOURCE GeneReport for Unigene cluster: Hs.123159
        SABiosciences Custom PCR Arrays for SPAG4
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SPAG4 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spag41 , 5 sperm associated antigen 41, 5 84.37(n)1
    82.3(a)1
      2 (77.34 cM)5
    2458651  NM_139151.41  NP_631890.31 
     1560651755 
    chicken
    (Gallus gallus)
    Aves --
    --
    (see all 9)
    --
    41(a)
    40(a)
    (see all 9)
    many ↔ many
    many ↔ many
    (see all 9)
    Z(34167459-34168773)
    25(205888-214237)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    35(a)
    1 → many
    GL343463.1(81656-92789)
    zebrafish
    (Danio rerio)
    Actinopterygii SUN56
    Sad1 and UNC84 domain containing 5
    15(a)
    1 → many
    6(47982348-47999334)
    fruit fly
    (Drosophila melanogaster)
    Insecta spag46
    koi6
    klaroid
    19(a)
    13(a)
    possible ortholog
    many → 1
    2L(11610510-11611772)
    2R(2702565-2705704)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-846
    Nuclear migration and anchoring protein unc-84
    7(a)
    possible ortholog
    X(13584775-13589827)


    ENSEMBL Gene Tree for SPAG4 (if available)
    TreeFam Gene Tree for SPAG4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPAG4 gene
    SUN22  SUN12  SUN32  SUN52  
    6 SIMAP similar genes for SPAG4 using alignment to 3 protein entries:     SPAG4_HUMAN (see all proteins):
    SUN1    UNC84A    SUN2    SUN3    SUN5    UNC84B

    SPAG4 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) 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

    10/217 SNPs in SPAG4 are shown (see all 217)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116999961,2
    C,H--34201820(+) AGAATC/AACAAG 1 -- us2k18Minor allele frequency- A:0.07NA EA WA 722
    rs1810687001,2
    --34201857(+) AAGCTA/GCACTG 1 -- us2k10--------
    rs793111411,2
    C,F--34202018(+) GGAAAA/CATGGG 1 -- us2k13Minor allele frequency- C:0.06CSA WA NA 240
    rs782778151,2
    F--34202051(+) CCTGAA/CTGAGC 1 -- us2k13Minor allele frequency- C:0.06CSA WA NA 240
    rs1859070801,2
    --34202072(+) GATGTC/TTAGGA 1 -- us2k10--------
    rs801329071,2
    C--34202200(+) ACATGC/TTAGGC 1 -- us2k12Minor allele frequency- T:0.10CSA WA 120
    rs1426659321,2
    C--34202249(+) CTGTGC/TCCTGA 1 -- us2k10--------
    rs1501791431,2
    --34202330(+) CATCTC/GTAATC 1 -- us2k10--------
    rs1135822531,2
    C,F--34202405(+) CAACAC/TAGCGA 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1492540101,2
    C--34202516(+) CCGGGA/GGATGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPAG4 (34203809 - 34208971 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SPAG4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv526188CNV Gain19592680

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603038    OMIM disorders: --

    2 diseases for SPAG4:    About MalaCards
    infertility    epididymitis


    SPAG4 for disorders           About GeneDecksing


    Export disorders for SPAG4 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 SPAG4 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with SPAG4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel testis-specific gene, SPAG4, whose product interacts specifically with outer dense fiber protein ODF27, maps to human chromosome 20q11.2. (PubMed id 9691178)1, 2, 3 Tarnasky H....van der Hoorn F.A. (1998)
    2. Spag4, a novel sperm protein, binds outer dense-fiber protein Odf1 and localizes to microtubules of manchette and axoneme. (PubMed id 10373309)1, 3, 9 Shao X....van der Hoorn F.A. (1999)
    3. Human sperm associated antigen 4 (SPAG4) is a potential cancer marker. (PubMed id 14614621)1, 2, 9 Kennedy C.... O'Bryan M.K. (2004)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    5. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    6. 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. (2002)
    7. DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)1 Hartley J.L....Brasch M.A. (2000)
    8. Rat Spag5 associates in somatic cells with endoplasmic reticulum and microtubules but in spermatozoa with outer dense fibers. (PubMed id 16211599)9 Fitzgerald C.J....van der Hoorn F.A. (2006)
    9. Cyclic nucleotide phosphodiesterase inhibition increases tyrosine phosphorylation and hyper motility in normal and pathological human spermatozoa. (PubMed id 16524250)9 Yunes R....Acosta A.A. (2005)
    10. Molecular cloning and characterization of the human orthologue of the oppo 1 gene encoding a sperm tail protein. (PubMed id 12728016)9 Kitamura K....Nishimune Y. (2003)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6676 HGNC: 11214 AceView: SPAG4 Ensembl:ENSG00000061656 euGenes: HUgn6676
    ECgene: SPAG4 H-InvDB: SPAG4

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for SPAG4 Pharmacogenomics, SNPs, Pathways

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