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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SPAG8 Gene

protein-coding GIFtS: 48
GCID: GC09M035797

sperm associated antigen 8

Explore 4 diseases affiliated with
SPAG8 via

MalaCards

our new
Human Malady Compendium

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

Aliases
Sperm Associated Antigen 8¹ ²		Sperm Membrane Protein 1² ³
HSD-1¹ ² ³		Sperm Membrane Protein BS-84² ³
BS-84¹ ²		SMP1² ⁵
SPAG3¹ ²		Sperm-Associated Antigen 8²
HSMP-1¹		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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPAG8:

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)

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

(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_000009.11 NC_018920.1 NT_008413.18

Regulatory elements:

SABiosciences 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 plasmid: SPAG8 promoter sequence

Search SABiosciences Chromatin IP Primers for SPAG8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: SPAG8_HUMAN, Q99932 (See protein sequence)

Recommended Name: Sperm-associated antigen 8

Size: 426 amino acids; 44819 Da

Subunit: Interacts with RANBP9

Subcellular location: Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Acrosomal region of the head of mature

sperm cells

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q99932

SPAG8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001034681.1 NP_758516.1

ENSEMBL proteins:

ENSP00000340982 ENSP00000418530 ENSP00000418072 ENSP00000379878 ENSP00000417462

ENSP00000420413 ENSP00000418215 ENSP00000419280

Human Recombinant Protein Products for SPAG8:

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	Uscn Proteins for SPAG8

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001669	acrosomal vesicle	IEA	--
GO:0005634	nucleus	IEA	--
GO:0016020	membrane	NAS	8788182

SPAG8 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

SPAG8 for domains About GeneDecksing

1 InterPro domain/family:

IPR026124 Sperm-assoc_Ag8

Graphical View of Domain Structure for InterPro Entry Q99932

ProtoNet protein and cluster: Q99932

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0008017	microtubule binding	IEA	--

SPAG8 for ontologies About GeneDecksing

Animal Models:

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPAG8

(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 Central^TM Interacting Genes and Proteins Networks for SPAG8

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for SPAG8 (Q99932^{2, 3} ENSP00000340982⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBQLN4	Q9NRR5²^,³, ENSP00000357292⁴	MINT-2872032 I2D: score=3 STRING: ENSP00000357292
RAN	P62826³, ENSP00000396127⁴	I2D: score=1 STRING: ENSP00000396127

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--
GO:0032092	positive regulation of protein binding	IEA	--
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	--

SPAG8 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 SPAG8
Search CenterWatch for drugs/clinical trials and news about SPAG8

(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, Sirion Biotech, 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 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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): SPAG8 Browse OriGene MicroRNA Expression Plasmids
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		4 QIAGEN miScript miRNA Assays for microRNAs that regulate SPAG8:
		hsa-miR-411* hsa-miR-379* hsa-miR-571 hsa-miR-2114*
		SwitchGear 3'UTR luciferase reporter plasmid: SPAG8 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA 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

24/56 AceView cDNA sequences (see all 56):

AI147969 BG031709 CR599473 NM_012436 NM_172312 BM977676 BU684636 CB305372

AW028644 CD517867 BI757195 CA314354 AW341854 AW770498 BC019247 AI142256

BF511329 AL565192 U12978 AL533599 AI028727 BI827151 AW081055 BQ773837

GeneLoc Exon Structure

5/6 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™, 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

SPAG8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GACAAATAGG

About this image

SPAG8 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SPAG8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPAG8

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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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPAG8

(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 SPAG8 gene from 1/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Spag8^{1 , 5}	sperm associated antigen 8^{1, 5}	75.49(n)¹ 66.67(a)¹		4 (23.05 cM)⁵ 433700¹ NM_001007463.1¹ NP_001007464.1¹ 43651335⁵

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)
About This Section

(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

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs61758536^1,2	C,F	--	35810245(+)	`ACACCG/AGCAGC`	4	/P /L	mis¹		3		NS NA EU	6301
rs141611723^1,2		--	35810368(+)	`GGCTTG/TGTACT`	2	--	int¹		0	--	--	--	--
rs200293173^1,2		--	35810459(+)	`CCCTGC/TTTGTG`	4	T A	mis¹		0	--	--	--	--
rs187051925^1,2		--	35810621(+)	`CTTTAC/TCCAAT`	2	--	int¹		0	--	--	--	--
rs138285220^1,2	C,F	--	35810673(+)	`CTTCAC/TGCTTC`	4	H R	mis¹		2		NA EU	5873
rs77126164^1,2	C	--	35810695(+)	`GTTGGG/AGGGTG`	2	--	int¹		2		WA EU	1439
rs150516249^1,2	C	--	35810722(+)	`GTTAAA/GAAGGA`	2	--	int¹		0	--	--	--	--
rs79458387^1,2	C,F	--	35810726(+)	`AGAAGG/AAGGCC`	2	--	int¹		1		WA	118
rs138934029^1,2		--	35810776(+)	`GGTTCC/TGCCCT`	2	--	int¹		0	--	--	--	--
rs192813746^1,2	C	--	35810850(+)	`GGGCTC/TGTTCT`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SPAG8 (35807782 - 35812269 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SPAG8: --

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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SPAG8 for disorders           About GeneDecksing

OMIM gene information: 605731    OMIM disorders: --

4 diseases for SPAG8:    About MalaCards

infertility endometriosis ataxia prostatitis

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)
About This Section

PubMed articles for SPAG8 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with SPAG8)

Utopia: connect your pdf to the dynamic
world of online information

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. (1999)
Expression and characterization of a novel human sperm membrane protein. (PubMed id 8788182)^{1, 2, 3, 9} Liu Q.Y....Catterall J.F. (1996)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (2004)
Sperm membrane protein (hSMP-1) and RanBPM complex in the microtubule-organizing centre. (PubMed id 15014887)^{1, 2} Tang X.... Wang L.F. (2004)
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. (2004)
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. (2000)
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. (2007)
Regulation of the G2/M phase of the cell cycle by spe rm associated antigen 8 (SPAG8) protein. (PubMed id 19548270)^{1, 9} Li R....Wang L.F. (2009)
Sperm associated antigen 8 (SPAG8), a novel regulator of activator of CREM in testis during spermatogenesis. (PubMed id 20488182)¹ Wu H....Wang L. (2010)
Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays. (PubMed id 19953087)¹ Persaud A....Rotin D. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

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

(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

Name	Description
PharmGKB entry for SPAG8	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SPAG8 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SPAG8 gene:
Search GeneIP for patents involving SPAG8

GeneCards and IP:
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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPAG8

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SPAG8

Sirion Biotech Customized:

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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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sperm associated antigen 8

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SPAG8 Gene

sperm associated antigen 8

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