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THAP6 Gene

protein-coding GIFtS: 46
GCID: GC04P076439

THAP Domain Containing 6

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disease database

(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
THAP Domain Containing 6¹ ²
THAP Domain-Containing Protein 6²

External Ids:	HGNC: 23189¹	Entrez Gene: 152815²	Ensembl: ENSG00000174796⁷	OMIM: 612535⁵	UniProtKB: Q8TBB0³

Export aliases for THAP6 gene to outside databases

Previous GC identifers: GC04P076832 GC04P076898 GC04P076796 GC04P076658 GC04P072186

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for THAP6 Gene:

THAP6 (THAP domain containing 6) is a protein-coding gene. An important paralog of this gene is THAP9.

Gene Wiki entry for THAP6 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000004.11 NT_016354.20 NC_018915.2

Regulatory elements:

Regulatory transcription factor binding sites in the THAP6 gene promoter:
NF-1 NF-1/L LCR-F1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: THAP6 promoter sequence

Search Chromatin IP Primers for THAP6

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat THAP6

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

Entrez Gene cytogenetic band: 4q21.1 Ensembl cytogenetic band: 4q21.1 HGNC cytogenetic band: 4q21.21

THAP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
THAP6 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P076439: view genomic region (about GC identifiers)

Start:	76,439,156 bp from pter	End:	76,475,683 bp from pter
Size:	36,528 bases	Orientation:	plus 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,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: THAP6_HUMAN, Q8TBB0 (See protein sequence)

Recommended Name: THAP domain-containing protein 6

Size: 222 amino acids; 25691 Da

Secondary accessions: Q5HYJ7 Q5JPC6

Alternative splicing: 2 isoforms: Q8TBB0-1 Q8TBB0-2

Explore the universe of human proteins at neXtProt for THAP6: NX_Q8TBB0

Explore proteomics data for THAP6 at MOPED

See THAP6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_653322.1

ENSEMBL proteins:

ENSP00000422402 ENSP00000425646 ENSP00000424949 ENSP00000426760 ENSP00000309007

ENSP00000370217 ENSP00000427651 ENSP00000426581 ENSP00000424255 ENSP00000426698

ENSP00000423720

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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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HGNC Gene Families:

THAP: THAP (C2CH-type zinc finger) domain containing

2 InterPro protein domains:

IPR026517 THAP6

IPR006612 Znf_C2CH

Graphical View of Domain Structure for InterPro Entry Q8TBB0

ProtoNet protein and cluster: Q8TBB0

UniProtKB/Swiss-Prot: THAP6_HUMAN, Q8TBB0

Similarity: Contains 1 THAP-type zinc finger

Find genes that share domains with THAP6 About GenesLikeMe

(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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Gene Ontology (GO): 3 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003676	nucleic acid binding	--	--
GO:0003677	DNA binding	IEA	--
GO:0046872	metal ion binding	IEA	--

Find genes that share ontologies with THAP6 About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for THAP6:

Low eccentricity cells

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for THAP6

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In Situ Assay
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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
cytoskeleton	4
nucleus	2
cytosol	1
extracellular	1
mitochondrion	1

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Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0015630	microtubule cytoskeleton	IDA	--

Find genes that share ontologies with THAP6 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 THAP6
Interactions:

Search GeneGlobe Interaction Network for THAP6

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

1 Interacting protein for THAP6 (ENSP00000309007⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SDCBP2	ENSP00000342935⁴	STRING: ENSP00000342935

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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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Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for THAP6

(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,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for THAP6 gene:

NM_144721.4

Unigene Cluster for THAP6:

THAP domain containing 6

Hs.479971 [show with all ESTs]

Unigene Representative Sequence: AL833350

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

ENST00000506261 ENST00000504218 ENST00000504384 ENST00000507557 ENST00000508105(uc010iis.1)

ENST00000311638(uc003him.3 uc010iiv.3) ENST00000380837(uc003hin.3)

ENST00000507556(uc011cbm.2) ENST00000504190 ENST00000507885(uc010iiu.1 uc003hio.1)

ENST00000502620 ENST00000503831 ENST00000514480

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Additional mRNA sequence:

AK056959.1 AK303658.1 AK308914.1 AK309187.1 AK310575.1 AK313765.1 AL833350.1 BC022989.2

BX647579.1

9 DOTS entries:

DT.97826213 DT.40279395 DT.95262753 DT.70104960 DT.75159976 DT.100774661 DT.121262247 DT.97805625

DT.121262260

Selected AceView cDNA sequences (see all 111):

AI692280 C16675 AI743405 AI149757 AA625663 AW514141 AI863288 BE048145

CA844235 AW303925 NM_144721 BX441095 BC022989 AI445613 AI299820 AI199523

AW511818 AI701582 AA551198 AL833350 AI243354 AW135173 BG055369 BX111715

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for THAP6 (see all 6) About this scheme

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

ECgene alternative splicing isoforms for THAP6

(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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THAP6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCTTTCACAA

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THAP6 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

THAP6 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.479971

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THAP6

(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 chordates.

Orthologs for THAP6 gene from Selected species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Thap6⁵	THAP domain containing 6	--		5 (45.62 cM) 91962882
zebrafish (Danio rerio)	Actinopterygii	THAP6 (2 of 2)⁶ CU655961.1⁶	Uncharacterized protein	23(a) 19(a)	1 ↔ many 1 ↔ many	19(31099647-31106581) ENSDARG00000056213 15(42902515-42912556) ENSDARG00000055690

ENSEMBL Gene Tree for THAP6 (if available)
TreeFam Gene Tree for THAP6 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for THAP6 gene

THAP9²

2 SIMAP similar genes for THAP6 using alignment to 9 protein entries: THAP6_HUMAN (see all proteins):

THAP9 THAP3

Find genes that share paralogs with THAP6 About GenesLikeMe

(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 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs192426834^1,2		--	76441725(+)	`AATATA/CCATTG`	1	--	int¹		0	--	--	--	--
rs183728762^1,2		--	76441733(+)	`TTGAAA/GCTTTT`	1	--	int¹		0	--	--	--	--
rs188206429^1,2		--	76441784(+)	`ATCTGC/TAGCAT`	1	--	int¹		0	--	--	--	--
rs115694407^1,2	F	--	76441834(+)	`AAAGCA/GTGAAT`	1	--	int¹		1		NA	120
rs192913163^1,2		--	76441887(+)	`GTTAAC/TGAATC`	1	--	int¹		0	--	--	--	--
rs199795746^1,2	C	--	76441933(+)	`AATTAC/TATAGC`	1	--	int¹		0	--	--	--	--
rs34942800^1,2	C,F	--	76442052(+)	`CAGCCG/AGCATT`	2	/S /G	mis¹		5		NA WA CSA	4752
rs201504507^1,2		--	76442098(+)	`GCACTG/TTAAGA`	2	C F	mis¹		0	--	--	--	--
rs184735609^1,2	C	--	76442163(+)	`CTTCTA/GTCTTT`	2	I V	mis¹		0	--	--	--	--
rs143920365^1,2	C,F	--	76442171(+)	`TTTGAT/CTCTCC`	2	/D	syn¹		2		NA EU	5849

HapMap Linkage Disequilibrium report for THAP6 (76439156 - 76475683 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for THAP6: About this table

Variant ID	Type	Subtype	PubMed ID
nsv7363	OTHER	Inversion	18451855

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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: 612535 OMIM disorders: --

Find genes that share disorders with THAP6 About GenesLikeMe

Genetic Association Database (GAD): THAP6

Export disorders for THAP6 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 THAP6 gene, integrated from 10 sources (see all 12):
(articles sorted by number of sources associating them with THAP6)

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

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)
The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase. (PubMed id 12575992)^{1, 3} Roussigne M....Girard J.P. (Trends Biochem. Sci. 2003)
Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)¹ Wang J....Yang X. (Mol. Syst. Biol. 2011)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (BMC Genomics 2007)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (Genome Res. 2006)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (Genome Res. 2004)
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)
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)¹ Wiemann S.... Poustka A. (Genome Res. 2001)

(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: 152815	HGNC: 23189	AceView: THAP6	Ensembl:ENSG00000174796	euGenes: HUgn152815
ECgene: THAP6	H-InvDB: THAP6

(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 THAP6	Pharmacogenomics, SNPs, Pathways

Intellectual Property for THAP6 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 THAP6 gene:
Search GeneIP for patents involving THAP6

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
Advanced Cell Diagnostics, Animal models from genOway)
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	OriGene ORF clones in mouse, rat for THAP6		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for THAP6		OriGene Custom Protein Services for THAP6

	Block miRNA regulation of human, mouse, rat THAP6 using miScript Target Protectors		SeqTarget long-range PCR primers for resequencing THAP6
	DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat THAP6		Predesigned siRNA for gene silencing in human, mouse, rat THAP6
	QuantiFast Probe-based Assays in human, mouse, rat THAP6		QuantiTect SYBR Green Assays in human, mouse, rat THAP6
	Custom PCR Arrays for THAP6		Search Chromatin IP Primers for THAP6
	Pre-validated RT² qPCR Primer Assay in human, mouse / rat THAP6		Search GeneGlobe Interaction Network for THAP6
	Regulatory tfbs in THAP6 promoter

	GenScript Custom Purified and Recombinant Proteins Services for THAP6		GenScript cDNA clones with any tag delivered in your preferred vector for THAP6
	GenScript Custom Assay Services for THAP6		GenScript Custom overexpressing Cell Line Services for THAP6
	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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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THAP6

	SwitchGear 3'UTR luciferase reporter plasmids for THAP6
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ThermoFisher Antibody for THAP6

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat THAP6

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genOway: Develop your customized and physiologically relevant rodent model for THAP6

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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 THAP6 gene at Home site.

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THAP6 Gene

THAP Domain Containing 6

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THAP6 Gene

THAP Domain Containing 6

Aliasesfor THAP6 gene

Summariesfor THAP6 gene

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THAP6 Human Recombinant Protein Products:

THAP6 Antibody Products:

THAP6 Assay Products:

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