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

SPAG11B Gene

protein-coding   GIFtS: 44
GCID: GC08M007294

Sperm Associated Antigen 11B

  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 11B1 2     EDDM2B2
EP22 3 5     EP2C2
HE22 3 5     EP2D2
Epididymal Protein 2B1 2     HE2C2
Human Epididymis-Specific Protein 22 3     Sperm-Associated Antigen 11B2
Sperm Antigen HE22 3     He23
SPAG112 5     Protein EP23

External Ids:    HGNC: 145341   Entrez Gene: 104072   Ensembl: ENSG000001648717   OMIM: 6065605   UniProtKB: Q086483   

Export aliases for SPAG11B gene to outside databases


(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 SPAG11B Gene:
This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of
these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the
isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located
on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript
variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences
are encoded by the splice variants. Two additional variants have been described, but their full length sequences
have not been determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for SPAG11B Gene: 
SPAG11B (sperm associated antigen 11B) is a protein-coding gene. Diseases associated with SPAG11B include hepatitis e, and epididymitis. GO annotations related to this gene include molecular_function. An important paralog of this gene is SPAG11A.

Gene Wiki entry for SPAG11B 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_023736.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPAG11B gene promoter:
         RORalpha1   RREB-1   RelA   CUTL1   Zic3   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPAG11B promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPAG11B


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

Entrez Gene cytogenetic band: 8p23.1   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1

SPAG11B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPAG11B gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M007294:  view genomic region     (about GC identifiers)

Start:
7,300,206 bp from pter      End:
7,321,196 bp from pter
Size:
20,991 bases      Orientation:
minus 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: SG11B_HUMAN, Q08648 (See protein sequence)
Recommended Name: Sperm-associated antigen 11B precursor  
Size: 103 amino acids; 11431 Da
Subcellular location: Secreted
Secondary accessions: E9PFH0 Q546A0 Q6ZYB2 Q9H4P8 Q9H4P9 Q9H4Q0 Q9H4Q1 Q9H4Q2 Q9NRT3 Q9NRV4
Q9NRV5 Q9NRV6 Q9NRV7 Q9NRV8
Alternative splicing: 6 isoforms:  Q08648-1   Q08648-2   Q08648-3   Q08648-4   Q08648-5   Q08648-6   (Ref.3 (AAG21882) sequence is in conflict in position: 31:H->R)

Explore the universe of human proteins at neXtProt for SPAG11B: NX_Q08648

SPAG11B Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

REFSEQ proteins (7 alternative transcripts): 
NP_057596.1  NP_478107.2  NP_478108.2  NP_478109.1  NP_478110.1  NP_478113.2  NP_478114.2  

ENSEMBL proteins: 
 ENSP00000437154   ENSP00000432257   ENSP00000352797   ENSP00000354411   ENSP00000297498  
 ENSP00000398550   ENSP00000431230   ENSP00000381480   ENSP00000322591  

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region NAS10698202

SPAG11B 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:
 IPR007988 Sperm_Ag_HE2

Graphical View of Domain Structure for InterPro Entry Q08648

ProtoNet protein and cluster: Q08648

UniProtKB/Swiss-Prot: SG11B_HUMAN, Q08648
Similarity: Belongs to the SPAG11 family


SPAG11B 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

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
SPAG11B for ontologies           About GeneDecksing


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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:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPAG11B

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

GO IDQualified GO termEvidencePubMed IDs
GO:0006952defense response ----
GO:0007283spermatogenesis TAS8167223
GO:0042742defense response to bacterium ----

SPAG11B 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

SPAG11B for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for SPAG11B (SG11B)

1 Novoseek inferred chemical compound relationship for SPAG11B gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
nacl 18.3 1 12628001 (1)

Search CenterWatch for drugs/clinical trials and news about SPAG11B / SG11B

(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 SPAG11B gene (7 alternative transcripts): 
NM_016512.3  NM_058200.2  NM_058201.2  NM_058202.2  NM_058203.2  NM_058206.3  NM_058207.2  

Unigene Cluster for SPAG11B:

Sperm associated antigen 11B
Hs.2717  [show with all ESTs]
Unigene Representative Sequence: BM563643
9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000528943 ENST00000528767 ENST00000359758(uc003wrg.1) ENST00000361111(uc003wrh.1)
ENST00000297498(uc003wrk.3 uc003wrl.3) ENST00000458665(uc003wrj.3)
ENST00000528168(uc003wri.3) ENST00000398462 ENST00000317900(uc003wrm.3)

miRNA
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Additional mRNA sequence: 

AF168616.1 AF168617.1 AJ628017.1 AJ635328.1 

7 DOTS entries:

DT.412709  DT.120629680  DT.99934985  DT.100755065  DT.120629636  DT.99997641  DT.120629621 

24/33 AceView cDNA sequences (see all 33):

NM_058203 NM_058202 NM_058206 AF168617 BM563643 AJ628017 AF168620 BC058833 
AF170797 NM_058201 AJ635328 AA335809 AF168619 NM_058207 AI143942 AF168618 
NM_058200 BX115855 AA335631 BU568707 AW079885 BE044355 AI150045 AA460402 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for SPAG11B    About this scheme

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


ECgene alternative splicing isoforms for SPAG11B

(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

SPAG11B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
SPAG11B Expression
About this image


Genevestigator expression for SPAG11B

SOURCE GeneReport for Unigene cluster: Hs.2717

UniProtKB/Swiss-Prot: SG11B_HUMAN, Q08648
Tissue specificity: Specifically expressed in caput and proximal corpus of epididymis. Present in the epididymal
epithelium and on the sperm surface, with a subacrosomal equatorial distribution on the sperm head

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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 human and mouse.

Orthologs for SPAG11B gene from 1/5 species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Spag11a5
Spag11b1
sperm associated antigen 11A5
sperm associated antigen 11B1
71.77(n)1
61.26(a)1
  8 (10.35 cM)5
5460381  NM_001039563.21  NP_001034652.21 
 191578865 


ENSEMBL Gene Tree for SPAG11B (if available)
TreeFam Gene Tree for SPAG11B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for SPAG11B gene
SPAG11A2  
18/29 SIMAP similar genes for SPAG11B using alignment to 4 protein entries:     SG11B_HUMAN (see all proteins) (see all similar genes):
SPAG11A    KDM5B    NF2    TNFRSF17    ZNF527    ASB11
MPP4    ZNF738    MED15    TSEN2    ZNF564    LOC100506792
TCF4    ZNF737    UTY    AURA2    FAM175A    FAT3

SPAG11B 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

UniProtKB/Swiss-Prot: SG11B_HUMAN, Q08648
Polymorphism: The microheterogeneity probably represents an allelic variant


10/225 SNPs in SPAG11B are shown (see all 225)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 8 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2000990421,2
C--7309232(+) GGAGA-/CCTGGA 6 -- int10--------
rs1133851331,2
C--7316470(+) AATTCC/TAGCAC 4 -- int10--------
rs558342311,2
C--7319953(-) GGCTTC/TCTCCA 5 -- int10--------
rs712677621,2
C,F--7519086(+) AGCTAC/TGTGAA 2 -- ds50013Minor allele frequency- T:0.33NA 6
rs1899914951,2
--7519473(+) GTCCAC/TGGAGC 2 -- ut310--------
rs27400471,2
F,A--7519520(-) ACCCAC/GGGTCT 2 -- ut313Minor allele frequency- G:0.40NA MN 188
rs1828939401,2
--7519520(+) AGACCC/GTGGGT 2 -- ut310--------
rs2008906431,2
--7519709(+) GCCTGA/GCAATG 2 -- int10--------
rs1998259861,2
C--7520454(+) CTTCCA/GTGTTT 2 -- int10--------
rs1161027751,2
C--7520548(+) TTACAA/GGTGGA 2 -- int10--------

HapMap Linkage Disequilibrium report for SPAG11B (7300206 - 7321196 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10/72 variations for SPAG11B (see all 72):    About this table     
Variant IDTypeSubtypePubMed ID
esv2736558CNV Deletion23290073
dgv26n31CNV Duplication19718026
nsv471458CNV Duplication19718026
dgv25n31CNV Duplication19718026
nsv890270CNV Loss21882294
nsv890300CNV Loss21882294
dgv7694n71CNV Loss21882294
dgv7664n71CNV Loss21882294
nsv508496CNV Loss20534489
dgv7680n71CNV Loss21882294

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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: 606560    OMIM disorders: --

6 diseases for SPAG11B:    About MalaCards
hepatitis e    epididymitis    azoospermia    male infertility
infertility    hepatitis

1 disease from the University of Copenhagen DISEASES database for SPAG11B:
Choroid plexus carcinoma

SPAG11B for disorders           About GeneDecksing


Export disorders for SPAG11B 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 SPAG11B gene, integrated from 9 sources (see all 22):
(articles sorted by number of sources associating them with SPAG11B)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Molecular cloning and characterization of a novel human sperm antigen (HE2) specifically expressed in the proximal epididymis. (PubMed id 8167223)1, 2, 3, 9 Osterhoff C.... Ivell R. (1994)
  2. Organization of the human gene encoding the epididymis-specific EP2 protein variants and its relationship to defensin genes. (PubMed id 11259252)1, 2, 9 Frohlich O.... Young L.G. (2001)
  3. HE2 beta and HE2 gamma, new members of an epididymis-specific family of androgen-regulated proteins in the human. (PubMed id 10698202)1, 2, 9 Hamil K.G....Hall S.H. (2000)
  4. Cloning and analysis of mRNAs expressed specifically in the human epididymis. (PubMed id 1693137)1, 3 Kirchhoff C....Kirchloff C. (1990)
  5. Differential expression and antibacterial activity of epididymis protein 2 isoforms in the male reproductive tract of human and rhesus monkey (Macaca mulatta). (PubMed id 15229135)1, 9 Avellar M.C....Hall S.H. (2004)
  6. Novel partners of SPAG11B isoform D in the human male reproductive tract. (PubMed id 19535787)1, 9 Radhakrishnan Y....French F.S. (2009)
  7. Novel antimicrobial peptide of human epididymal duct origin. (PubMed id 12193388)1, 9 von Horsten H.H....Kirchhoff C. (2002)
  8. Multiple promoter and splicing mRNA variants of the epididymis-specific gene EP2. (PubMed id 10819450)1, 9 Frohlich O....Young L.G. (2000)
  9. Region-specific variation of gene expression in the human epididymis as revealed by in situ hybridization with tissue-specific cDNAs. (PubMed id 8418812)1, 9 Krull N.... Kirchhoff C. (1993)
  10. Verification of male infertility biomarkers in seminal plasma by multiplex selected reaction monitoring assay. (PubMed id 21933954)1 Drabovich A.P....Diamandis E.P. (2011)

(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: 10407 HGNC: 14534 AceView: SPAG11.1 Ensembl:ENSG00000164871 euGenes: HUgn10407
ECgene: SPAG11B H-InvDB: SPAG11B

(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)
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NameDescription
PharmGKB entry for SPAG11B 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 SPAG11B gene:
Search GeneIP for patents involving SPAG11B

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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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