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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

Explore 4 diseases affiliated with
SPAG11B 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 11B¹ ²		Sperm Antigen HE2² ³
EP2¹ ² ³ ⁵		SPAG11² ⁵
HE2¹ ² ³ ⁵		HE2C²
EDDM2B¹ ²		Epididymal Protein 2B²
EP2C¹ ²		Sperm-Associated Antigen 11B²
EP2D¹ ²		He2³
Human Epididymis-Specific Protein 2² ³		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:

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)

Gene Wiki entry for SPAG11B

(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_000008.10 NC_018919.1 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 plasmid: SPAG11B promoter sequence

Search SABiosciences Chromatin IP Primers for SPAG11B

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 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: 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 MOPED and PaxDb: --

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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	10698202

SPAG11B 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

SPAG11B for domains About GeneDecksing

1 InterPro domain/family:

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--

SPAG11B for ontologies About GeneDecksing

(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 SPAG11B

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007283	spermatogenesis	TAS	8167223
GO:0042742	defense 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, 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
1 Novoseek 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 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,
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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)

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Additional cDNA 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_058206 AI143942 NM_058207 BX115855 NM_058202 AF168619 AF168618

NM_058201 AJ628017 AF168617 NM_058200 AF170797 BC058833 AJ635328 BM563643

AA335631 AF168620 AA335809 AA460402 AI150045 BU568707 BE044355 AW079885

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
CGAP TAG: --

About this image

SPAG11B 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

Beating cell clusters (Spontaneous differen...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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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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)
About This Section

--

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

18/22 SIMAP similar genes for SPAG11B using alignment to 4 protein entries: SG11B_HUMAN (see all proteins) (see all similar genes):

SPAG11A NF2 TNFRSF17 ZNF527 MED15 TSEN2

ZNF564 LOC100506792 TCF4 UTY AURA2 FAM175A

FAT3 LYRM4 SEPT2 SHANK2 PKN1 CFLAR

SPAG11B for paralogs About GeneDecksing

(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

UniProtKB/Swiss-Prot: SG11B_HUMAN, Q08648

Polymorphism: The microheterogeneity probably represents an allelic variant

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs189991495^1,2		--	7305363(+)	`GTCCAC/TGGAGC`	2	--	ut3¹		0	--	--	--	--
rs182893940^1,2		--	7305410(+)	`AGACCC/GTGGGT`	2	--	ut3¹		0	--	--	--	--
rs200890643^1,2		--	7305599(+)	`GCCTGA/GCAATG`	2	--	int¹		0	--	--	--	--
rs116102775^1,2	C,	--	7306425(+)	`TTACAA/GGTGGA`	2	--	int¹		0	--	--	--	--
rs2853663^1,2	A	--	7307390(-)	`CAAACA/GTGCTG`	2	--	int¹		0	--	--	--	--
rs138533144^1,2	C,	--	7307589(+)	`TGAATA/GCTGAC`	6	--	int¹ ds500¹		0	--	--	--	--
rs187229932^1,2		--	7307729(+)	`TGTTGC/TATTAA`	6	--	ds500¹ int¹		0	--	--	--	--
rs73661360^1,2	C,F,,	--	7307901(+)	`AAAGAT/AGTCAT`	6	--	ds500¹ int¹		2		WA CSA	4
rs73199781^1,2	C,,	--	7307911(+)	`TCAGAT/AGGAAA`	6	--	int¹ ds500¹		1		CSA	2
rs71511265^1,2	C,F	--	7307965(+)	`GTTTGG/AAGCTC`	6	--	ds500¹ int¹		2		NA	4

HapMap Linkage Disequilibrium report for SPAG11B (7300206 - 7321196 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 36 variations for SPAG11B
15/28 CNVs (see all 28): 70259 0734 8593 2117 34519 34453 70271 31424 7702 9081 52607 52617 0733 0735 0296
8 Inversions: 37309 37307 37308 37304 37305 37306 37310 37303

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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

SPAG11B for disorders           About GeneDecksing

OMIM gene information: 606560    OMIM disorders: --

4 diseases for SPAG11B:    About MalaCards

epididymitis hepatitis e azoospermia hepatitis

2 diseases from the University of Copenhagen DISEASES database for SPAG11B:

Hepatitis E Azoospermia

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

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)
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)
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)
Cloning and analysis of mRNAs expressed specifically in the human epididymis. (PubMed id 1693137)^{1, 3} Kirchhoff C....Kirchloff C. (1990)
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)
Novel partners of SPAG11B isoform D in the human male reproductive tract. (PubMed id 19535787)^{1, 9} Radhakrishnan Y....French F.S. (2009)
Novel antimicrobial peptide of human epididymal duct origin. (PubMed id 12193388)^{1, 9} von Horsten H.H....Kirchhoff C. (2002)
Multiple promoter and splicing mRNA variants of the epididymis-specific gene EP2. (PubMed id 10819450)^{1, 9} Frohlich O....Young L.G. (2000)
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)
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

		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: 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)
About This Section

Name	Description
PharmGKB entry for SPAG11B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SPAG11B gene
(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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	Browse OriGene Antibodies		OriGene shRNA RFP for SPAG11B
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPAG11B
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	GenScript Custom Purified and Recombinant Proteins Services for SPAG11B		GenScript cDNA clones with any tag delivered in your preferred vector for SPAG11B
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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SPAG11B Gene

sperm associated antigen 11B

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Export list of displayed genes

SPAG11B Gene

sperm associated antigen 11B

Aliasesfor SPAG11B gene

Summariesfor SPAG11B gene

Genomic Viewsfor SPAG11B gene

Proteinsfor SPAG11B gene

Protein Domains /Familiesfor SPAG11B gene

Functionfor SPAG11B gene

Pathways & Interactionsfor SPAG11B gene

Drugs & Compoundsfor SPAG11B gene

Transcriptsfor SPAG11B gene

Expression for SPAG11B gene

Orthologsfor SPAG11B gene

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Genomic Variantsfor SPAG11B gene

Disorders / Diseasesfor SPAG11B gene

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for SPAG11B gene

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for SPAG11B gene

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for SPAG11B gene

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Families
for SPAG11B gene

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for SPAG11B gene

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for SPAG11B gene

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for SPAG11B gene

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for SPAG11B gene

Expression
for SPAG11B gene

Orthologs
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for SPAG11B gene

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for SPAG11B gene

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for SPAG11B gene

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for SPAG11B gene