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GGN Gene

protein-coding GIFtS: 45
GCID: GC19M038874

Gametogenetin

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(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
gametogenetin¹ ²

External Ids:	HGNC: 18869¹	Entrez Gene: 199720²	Ensembl: ENSG00000179168⁷	OMIM: 609966⁵	UniProtKB: Q86UU5³

Export aliases for GGN gene to outside databases

Previous GC identifers: GC19M043551 GC19M043566 GC19M035322

(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 GGN Gene:

This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells).

Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins,

namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear,

cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may

play a role in spermatogenesis. (provided by RefSeq, Jul 2008)

GeneCards Summary for GGN Gene:

GGN (gametogenetin) is a protein-coding gene. GO annotations related to this gene include protein dimerization activity.

UniProtKB/Swiss-Prot: GGN_HUMAN, Q86UU5

Function: May be involved in spermatogenesis (By similarity)

(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_000019.9 NT_011109.17 NC_018930.2

Regulatory elements:

Regulatory transcription factor binding sites in the GGN gene promoter:
E2F-4 E2F-3a E2F-5 Nkx2-5 E2F-2 CREB E2F-1 E2F deltaCREB Zic3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GGN promoter sequence

Search Chromatin IP Primers for GGN

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GGN

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

Entrez Gene cytogenetic band: 19q13.2 Ensembl cytogenetic band: 19q13.2 HGNC cytogenetic band: 19q13.2

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

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M038874: view genomic region (about GC identifiers)

Start:	38,874,905 bp from pter	End:	38,878,722 bp from pter
Size:	3,818 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., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: GGN_HUMAN, Q86UU5 (See protein sequence)

Recommended Name: Gametogenetin

Size: 652 amino acids; 66699 Da

Subunit: Interacts with FANCL, GGNBP1 and ZNF403/GGNBP2 (By similarity)

Secondary accessions: Q7RTU6 Q86UU4 Q8NAA1

Alternative splicing: 3 isoforms: Q86UU5-1 Q86UU5-2 Q86UU5-3

Explore the universe of human proteins at neXtProt for GGN: NX_Q86UU5

Explore proteomics data for GGN at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

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

REFSEQ proteins: NP_689870.3

ENSEMBL proteins:

ENSP00000334940 ENSP00000467295 ENSP00000467084 ENSP00000465186

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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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ProtoNet protein and cluster: Q86UU5

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: GGN_HUMAN, Q86UU5

Function: May be involved in spermatogenesis (By similarity)

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0046983	protein dimerization activity	IEA	--

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Phenotypes:
1 GenomeRNAi human phenotype for GGN:

Increased gamma-H2AX phosphory

3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ggn):

cellular

homeostasis/metabolism

mortality/aging

Find genes that share phenotypes with GGN About GenesLikeMe

Animal Models:
MGI mouse knock-out Ggn^tm1Dpj for GGN

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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 COMPARTMENTS:

Compartment	Confidence
nucleus	3
cytosol	2

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Gene Ontology (GO): 3 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005730	nucleolus	IEA	--
GO:0005737	cytoplasm	--	--
GO:0048471	perinuclear region of cytoplasm	IEA	--

Find genes that share ontologies with GGN 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 GGN
Interactions:

GeneGlobe Interaction Network for GGN

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

5 Interacting proteins for GGN (Q86UU5³ ENSP00000334940⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FANCL	Q9NW38³, ENSP00000385021⁴	I2D: score=1 STRING: ENSP00000385021
GGNBP1	Q5YKI7³, ENSP00000363582⁴	I2D: score=1 STRING: ENSP00000363582
GGNBP2	Q9H3C7³, ENSP00000307617⁴	I2D: score=3 STRING: ENSP00000307617
OAZ3	Q9UMX2³, ENSP00000313922⁴	I2D: score=2 STRING: ENSP00000313922
CCNB1IP1	ENSP00000337396⁴	STRING: ENSP00000337396

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Gene Ontology (GO): 5 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007275	multicellular organismal development	IEA	--
GO:0007276	gamete generation	ISS	--
GO:0007283	spermatogenesis	IEA	--
GO:0008104	protein localization	IEA	--
GO:0030154	cell differentiation	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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(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,
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REFSEQ mRNAs for GGN gene (2 alternative transcripts):

NM_152657.3 NM_182477.1

Unigene Cluster for GGN:

Gametogenetin

Hs.447948 [show with all ESTs]

Unigene Representative Sequence: AF538035

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000334928(uc002oij.1 uc002oik.1 uc010efy.1) ENST00000591809

ENST00000585737 ENST00000586599 ENST00000587676

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Additional mRNA sequence:

AF538035.1 AF538037.1 AK057356.2 AK093032.1 BC035008.2

4 DOTS entries:

DT.100018246 DT.121433500 DT.121433499 DT.92059597

Selected AceView cDNA sequences (see all 34):

BC035008 AK093032 AA609137 AI201296 AI656796 AF538037 AX747869 BX098794

NM_152657 AA383127 AW949856 AK057356 BK000550 AA725026 BQ064582 AA400144

AI016248 AA971327 AA609724 AF538035 AF538036 AA421507 NM_182477 AI024165

GeneLoc Exon Structure

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

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

ECgene alternative splicing isoforms for GGN

(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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GGN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCAATAAAAT

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GGN Protein expression data from MOPED¹, PaxDb² and MaxQB³:

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GGN Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.447948

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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 human and mouse.

Orthologs for GGN gene from Selected species (see all 5) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ggn^{1 , 5}	gametogenetin^{1, 5}	76.11(n)¹ 71.52(a)¹		7 (16.94 cM)⁵ 243897¹ NM_182694.2¹ NP_874353.2¹ 29170220⁵

ENSEMBL Gene Tree for GGN (if available)
TreeFam Gene Tree for GGN (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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SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs112267921^1,2	C,F	--	38874994(+)	`GCATCT/GGGATT`	1	--	ut3¹		1		EU	1295
rs62123481^1,2	C,F	--	38875072(+)	`GGCCTA/C/GCAAGT`	3	Q E *	mis¹ stg¹		4		NA EU	5962
rs200653001^1,2		--	38875109(+)	`GAGCCA/GGACAG`	2	S	syn¹		0	--	--	--	--
rs145910727^1,2	C,F	--	38875159(+)	`GGTGGA/GTGTGC`	2	P S	mis¹		1		NA	4546
rs182734848^1,2		--	38875248(+)	`CCCCAA/TATGAA`	1	--	int¹		0	--	--	--	--
rs144086396^1,2		--	38875270(+)	`CTGAAA/GGCTAT`	1	--	int¹		0	--	--	--	--
rs11083454^1,2	C,F,H	--	38875482(+)	`TTGTCC/TCCCTG`	1	--	int¹		12		NS EA NA CSA	1664
rs188610914^1,2		--	38875599(+)	`GAGGGA/GTCAGG`	1	--	int¹		0	--	--	--	--
rs191786084^1,2		--	38875868(+)	`GTGTCC/TCCCTT`	1	--	int¹		0	--	--	--	--
rs78554911^1,2	C,F	--	38875871(+)	`TCCCCC/TTTTCC`	1	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for GGN (38874905 - 38878722 bp)

Structural Variations
Database of Genomic Variants (DGV) 7 variations for GGN: About this table

Variant ID	Type	Subtype	PubMed ID
dgv3857n71	CNV	Loss	21882294
nsv833823	CNV	Loss	17160897
nsv911658	CNV	Loss	21882294
nsv833822	CNV	Loss	17160897
nsv911659	CNV	Loss	21882294
nsv911660	CNV	Gain	21882294
nsv470140	CNV	Gain	18288195

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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: 609966 OMIM disorders: --

1 inferred disease relationship from the University of Copenhagen DISEASES database for GGN:

Male infertility

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Human Genome Epidemiology (HuGE) Navigator: GGN (47 documents)

Export disorders for GGN 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 GGN gene integrated from 10 sources:
(articles sorted by number of sources associating them with GGN)

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

Mouse GGN1 and GGN3, two germ cell-specific proteins from the single gene Ggn, interact with mouse POG and play a role in spermatogenesis. (PubMed id 12574169)^{1, 2, 3} Lu B. and Bishop C.E. (J. Biol. Chem. 2003)
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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)¹ Woods N.T....Monteiro A.N. (Sci Signal 2012)
GGN1 in the testis and ovary and its variance within the Australian fertile and infertile male population. (PubMed id 21114676)¹ Jamsai D....O'Bryan M.K. (Int. J. Androl. 2011)
Yeast two-hybrid screens imply that GGNBP1, GGNBP2 and OAZ3 are potential interaction partners of testicular germ cell-specific protein GGN1. (PubMed id 15642376)¹ Zhang J....Lu B. (FEBS Lett. 2005)
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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 199720	HGNC: 18869	AceView: GGN	Ensembl:ENSG00000179168	euGenes: HUgn199720
ECgene: GGN	H-InvDB: GGN

(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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Name	Description
PharmGKB entry for GGN	Pharmacogenomics, SNPs, Pathways

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

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

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, eBioscience, antibodies-online, 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
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	OriGene ORF clones in mouse, rat for GGN		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for GGN		OriGene Custom Protein Services for GGN

	Block miRNA regulation of human, mouse, rat GGN using miScript Target Protectors		SeqTarget long-range PCR primers for resequencing GGN
	DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GGN		Predesigned siRNA for gene silencing in human, mouse, rat GGN
	QuantiFast Probe-based Assays in human, mouse, rat GGN		QuantiTect SYBR Green Assays in human, mouse, rat GGN
	Custom PCR Arrays for GGN		Search Chromatin IP Primers for GGN
	Pre-validated RT² qPCR Primer Assay in human, mouse, rat GGN		GeneGlobe Interaction Network for GGN
	Regulatory tfbs in GGN promoter

	GenScript Custom Purified and Recombinant Proteins Services for GGN		GenScript cDNA clones with any tag delivered in your preferred vector for GGN
	GenScript Custom Assay Services for GGN		GenScript Custom overexpressing Cell Line Services for GGN
	CloneReady with Over 120,000 Genes		Gene Synthesis: Any Gene in Any Vector
	Vector-based siRNA and miRNA, Ready for Transfection		Gene Mutant Library, Variants up to 10^11
	Plasmid Preparation		Custom Peptide Services

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	Browse Sino Biological Proteins
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	GGN antibodies
	GGN proteins
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	Search for Antibodies for GGN at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for GGN
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Browse ProSpec Recombinant Proteins

	Proteins for GGN
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Browse ESI BIO Cell Lines and PureStem Progenitors for GGN

	Gene Synthesis
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GGN

	Browse SwitchGear 3'UTR luciferase reporter plasmids for GGN
	SwitchGear Promoter luciferase reporter plasmids for GGN

Search ThermoFisher Antibodies for GGN

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GGN

Browse compounds at ApexBio

Search Addgene for plasmids for GGN

	Search eBioscience for proteins for GGN
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	eBioscience FlowRNA Probe Sets

genOway: Develop your customized and physiologically relevant rodent model for GGN

	antibodies-online antibodies for GGN (18 products)
	antibodies-online kits for GGN (6 products)
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	antibodies-online proteins for GGN

GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 2 Nov 2014 , 8 Jan 2015

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

Hot genes Disease genes GGN gene at Home site.

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GGN Gene

Gametogenetin

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GGN Human Recombinant Protein Products:

GGN Antibody Products:

GGN Assay Products:

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for GGN gene

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