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Set Analyses:

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ARNT Gene

protein-coding GIFtS: 68
GCID: GC01M150782

Aryl Hydrocarbon Receptor Nuclear Translocator

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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
Aryl Hydrocarbon Receptor Nuclear Translocator¹ ²		HIF1B²
Class E Basic Helix-Loop-Helix Protein 2² ³		HIF1BETA²
Dioxin Receptor, Nuclear Translocator² ³		TANGO²
HIF-1-beta² ³		Hypoxia-Inducible Factor 1, Beta Subunit²
HIF1-beta² ³		BHLHE2³
bHLHe2² ³		ARNT Protein³
HIF-1beta²		Hypoxia-Inducible Factor 1-Beta³

External Ids:	HGNC: 700¹	Entrez Gene: 405²	Ensembl: ENSG00000143437⁷	OMIM: 126110⁵	UniProtKB: P27540³

Export aliases for ARNT gene to outside databases

Previous GC identifers: GC01M148624 GC01M146529 GC01M147557 GC01M147998 GC01M147595 GC01M149048 GC01M122159

(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 ARNT Gene:

This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along

with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement

of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This

protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal

translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias.

Alternative splicing results in multiple transcript variants. (provided by RefSeq, Oct 2013)

GeneCards Summary for ARNT Gene:

ARNT (aryl hydrocarbon receptor nuclear translocator) is a protein-coding gene. Diseases associated with ARNT include hypoxia, and acute myeloid leukemia. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ARNT2.

UniProtKB/Swiss-Prot: ARNT_HUMAN, P27540

Function: Required for activity of the Ah (dioxin) receptor. This protein is required for the ligand-binding

subunit to translocate from the cytosol to the nucleus after ligand binding. The complex then initiates

transcription of genes involved in the activation of PAH procarcinogens. The heterodimer with HIF1A or

EPAS1/HIF2A functions as a transcriptional regulator of the adaptive response to hypoxia

Gene Wiki entry for ARNT (Aryl hydrocarbon receptor nuclear translocator) 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:

NC_000001.11 NT_004487.20 NC_018912.2

Regulatory elements:

Regulatory transcription factor binding sites in the ARNT gene promoter:
AP-1 ATF-2 c-Jun C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ARNT promoter sequence

Search Chromatin IP Primers for ARNT

Epigenetics:

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

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

Entrez Gene cytogenetic band: 1q21 Ensembl cytogenetic band: 1q21.3 HGNC cytogenetic band: 1q21

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

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M150782: view genomic region (about GC identifiers)

Start:	150,782,181 bp from pter	End:	150,849,244 bp from pter
Size:	67,064 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ARNT_HUMAN, P27540 (See protein sequence)

Recommended Name: Aryl hydrocarbon receptor nuclear translocator

Size: 789 amino acids; 86636 Da

Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with AHR,

AHRR, HIF1A and EPAS1/HIF2A as well as with other bHLH proteins. Interacts with TACC3 (By similarity). Interacts

with NOCA7. Heterodimer with HIF1A

Sequence caution: Sequence=CAD38953.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Selected PDB 3D structures from and Proteopedia for ARNT (see all 16):

1D7G (3D)

1X0O (3D)

2A24 (3D)

2ARN (3D)

2B02 (3D)

2HV1 (3D)

Secondary accessions: C4AMA1 Q5QP39 Q8NDC7

Alternative splicing: 3 isoforms: P27540-1 P27540-2 P27540-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARNT: NX_P27540

Explore proteomics data for ARNT at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

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

REFSEQ proteins (5 alternative transcripts):

NP_001184254.1 NP_001272964.1 NP_001272965.1 NP_001659.1 NP_848514.1

ENSEMBL proteins:

ENSP00000351407 ENSP00000425899 ENSP00000346372 ENSP00000423851 ENSP00000427571

ENSP00000425363

Reactome Protein details: P27540

ARNT Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein for ARNT OriGene Protein Over-expression Lysate for ARNT OriGene MassSpec for ARNT OriGene Custom Protein Services for ARNT
	GenScript Custom Purified and Recombinant Proteins Services for ARNT
	Novus Biologicals ARNT Proteins Novus Biologicals ARNT Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for ARNT

ARNT Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ARNT
	R&D Systems Antibodies for ARNT (ARNT/HIF-1 beta)
	Cell Signaling Technology (CST) Antibodies for ARNT
	OriGene Antibodies for ARNT OriGene Custom Antibody Services for ARNT
	Novus Biologicals ARNT Antibodies
	Abcam antibodies for ARNT
	Cloud-Clone Corp. Antibodies for ARNT
	ThermoFisher Antibody for ARNT
	LSBio Antibodies in human, mouse, rat for ARNT

ARNT Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for ARNT
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ARNT
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for ARNT Cloud-Clone Corp. CLIAs for ARNT

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

bHLH: Basic helix-loop-helix proteins

5 InterPro protein domains:

IPR001610 PAC

IPR013767 PAS_fold

IPR000014 PAS

IPR011598 bHLH_dom

IPR001067 Nuc_translocat

Graphical View of Domain Structure for InterPro Entry P27540

ProtoNet protein and cluster: P27540

5 Blocks protein domains:

IPB000014 PAS domain

IPB001067 Nuclear translocator signature

IPB001092 Basic helix-loop-helix dimerization domain bHLH

IPB001610 PAC motif

IPB013655 PAS fold-3

UniProtKB/Swiss-Prot: ARNT_HUMAN, P27540

Similarity: Contains 1 bHLH (basic helix-loop-helix) domain

Similarity: Contains 1 PAC (PAS-associated C-terminal) domain

Similarity: Contains 2 PAS (PER-ARNT-SIM) domains

ARNT 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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: ARNT_HUMAN, P27540

Function: Required for activity of the Ah (dioxin) receptor. This protein is required for the ligand-binding

subunit to translocate from the cytosol to the nucleus after ligand binding. The complex then initiates

transcription of genes involved in the activation of PAH procarcinogens. The heterodimer with HIF1A or

EPAS1/HIF2A functions as a transcriptional regulator of the adaptive response to hypoxia

Genatlas biochemistry entry for ARNT:

aryl hydrocarbon receptor nuclear translocator,dioxin receptor translocator,constituvely expressed for activation

of genes involved in metabolism,angiogenesis and apoptosis

Gene Ontology (GO): Selected molecular function terms (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000989	transcription factor binding transcription factor activity	--	--
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	TAS	10777486
GO:0003705	contributes to RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	IDA	7539918
GO:0003713	transcription coactivator activity	IEA	--

ARNT for ontologies About GeneDecksing

Phenotypes:
Selected MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Arnt) (see all 17):

cardiovascular system	cellular	craniofacial	embryogenesis	endocrine/exocrine gland
growth/size/body	hematopoietic system	homeostasis/metabolism	immune system	integument
liver/biliary system	mortality/aging	nervous system	normal	renal/urinary system

ARNT for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for ARNT: Arnt^tm1.2Gonz Arnt^tm1Mcs Arnt^tm1Oha

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARNT

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ARNT

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARNT

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARNT

Transcription Factor Targeting:

Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer

Consensus sequence: TBGCACGCAA

miRNA Products:		miRTarBase miRNAs that target ARNT: hsa-mir-877-3p (MIRT037117), hsa-mir-324-5p (MIRT043236), hsa-mir-107 (MIRT004537)

		Block miRNA regulation of human, mouse, rat ARNT using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate ARNT (see all 76):
		hsa-miR-193a-3p hsa-miR-3194-5p hsa-miR-3916 hsa-miR-629* hsa-miR-4325 hsa-miR-298 hsa-miR-3613-3p hsa-miR-3148

		SwitchGear 3'UTR luciferase reporter plasmid: ARNT 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for ARNT
		Predesigned siRNA for gene silencing in human, mouse, rat ARNT

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ARNT

Clone Products:		OriGene clones in human, mouse for ARNT (see all 19) OriGene ORF clones in mouse, rat for ARNT OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): ARNT (NM_001197325)
		Sino Biological Human cDNA Clone for ARNT
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARNT
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARNT

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ARNT
		Browse ESI BIO Cell Lines and PureStem Progenitors for ARNT

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARNT

(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 UniProtKB/Swiss-Prot

ARNT_HUMAN, P27540: Nucleus

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	5

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005667	transcription factor complex	IEA	--
GO:0005737	cytoplasm	IEA	--

ARNT for ontologies About GeneDecksing

(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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SuperPaths for ARNT About (see all 21)

See pathways by source

SuperPath

Contained pathways About

Regulation of Hypoxia-inducible Factor (HIF) by Oxygen

	Regulation of Hypoxia-inducible Factor (HIF) by Oxygen	1.00			Regulation of Gene Expression by Hypoxia-inducible Factor	0.00
	Cellular response to hypoxia	1.00

Cellular Senescence

Cellular responses to stress

0.81

Chemical carcinogenesis

Chemical carcinogenesis

0.71

Translation Insulin regulation of translation

Transcription Receptor mediated HIF regulation

0.51

Immune response IL 23 signaling pathway

Development Angiopoietin Tie2 signaling

0.38

Pathways by source See SuperPaths
Show all pathways

2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ARNT

	AHR Pathway
	HIF1Alpha Pathway

2 Cell Signaling Technology (CST) Pathways for ARNT

	Translational Control
	Angiogenesis

3 GeneGo (Thomson Reuters) Pathways for ARNT

	Transcription Ligand-dependent activation of the ESR1/SP pathway
	Transcription Receptor-mediated HIF regulation
	Development Angiopoietin - Tie2 signaling

Selected BioSystems Pathways for ARNT (see all 7)

	Angiogenesis
	AhR pathway
	Signaling events mediated by VEGFR1 and VEGFR2
	HIF-2-alpha transcription factor network
	HIF-1-alpha transcription factor network

1 Reactome Pathway for ARNT

Regulation of gene expression by Hypoxia-inducible Factor

1 PharmGKB Pathway for ARNT

Diuretics Pathway, Pharmacodynamics

4 Kegg Pathways (Kegg details for ARNT):

	HIF-1 signaling pathway
	Pathways in cancer
	Chemical carcinogenesis
	Renal cell carcinoma

ARNT for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including ARNT (see all 9):

Cancer PathwayFinder in human mouse rat

VEGF Signaling in human mouse rat

Nuclear Receptors & Coregulators in human mouse rat

Hypoxia Signaling Pathway in human mouse rat

Stress & Toxicity PathwayFinder in human mouse rat

Interactions:

GeneGlobe Interaction Network for ARNT

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for ARNT (P27540^{1, 2, 3} ENSP00000351407⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 120)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AHR	P35869¹^,³, ENSP00000242057⁴	EBI-80809,EBI-80780 I2D: score=10 STRING: ENSP00000242057
SMAD9	O15198²^,³	MINT-62088 I2D: score=3
HIF1A	Q16665¹^,³, ENSP00000338018⁴	EBI-80809,EBI-447269 I2D: score=12 STRING: ENSP00000338018
NCOA7	Q8NI08¹^,³, ENSP00000357341⁴	EBI-80809,EBI-80799 I2D: score=1 STRING: ENSP00000357341
NCOR2	Q9Y618¹^,³, ENSP00000348551⁴	EBI-80809,EBI-80830 I2D: score=2 STRING: ENSP00000348551

About this table

Gene Ontology (GO): Selected biological process terms (see all 20): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IDA	8756616
GO:0001892	embryonic placenta development	IEA	--
GO:0001938	positive regulation of endothelial cell proliferation	IC	8756616
GO:0006351	transcription, DNA-templated	TAS	1317062
GO:0006355	regulation of transcription, DNA-templated	--	--

ARNT for ontologies About GeneDecksing

(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

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for ARNT

Selected Novoseek inferred chemical compound relationships for ARNT gene (see all 25) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tcdd	85	36	11452142 (4), 8396713 (3), 8145729 (3), 9783729 (2) (see all 17)
vegf	63.1	40	9950871 (5), 19020709 (4), 20122829 (2), 19287200 (2) (see all 17)
alpha-naphthoflavone	56.3	6	8034660 (3)
3-methylcholanthrene	54	2	9783729 (1), 11768231 (1)
cocl2	54	1	11394885 (1)
oxygen	44.8	18	11927290 (1), 18635960 (1), 9822602 (1), 10864977 (1) (see all 16)
geldanamycin	38	3	10409767 (2)
beta-naphthoflavone	37.2	1	11595506 (1)
hydrocarbons	36.8	6	10409767 (1), 14672759 (1), 9211913 (1), 7526149 (1) (see all 5)
benzo(a)pyrene	34.4	5	19539049 (1), 19428948 (1)

ARNT for compounds About GeneDecksing

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ARNT gene (6 alternative transcripts):

NM_001197325.1 NM_001286035.1 NM_001286036.1 NM_001668.3 NM_178427.2 NM_178426.1

Unigene Cluster for ARNT:

Aryl hydrocarbon receptor nuclear translocator

Hs.632446 [show with all ESTs]

Unigene Representative Sequence: NM_001668

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

ENST00000358595(uc010pck.2 uc001evr.2 uc001evs.2 uc009wmd.2 uc009wmb.2 uc009wmc.2 uc009wme.2 uc010pcl.2)

ENST00000471844 ENST00000354396 ENST00000515192 ENST00000505755 ENST00000510273

ENST00000478972 ENST00000512296 ENST00000468970 ENST00000497108 ENST00000505979

ENST00000504358

miRNA Products:		Block miRNA regulation of human, mouse, rat ARNT using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate ARNT (see all 76):
		hsa-miR-193a-3p hsa-miR-3194-5p hsa-miR-3916 hsa-miR-629* hsa-miR-4325 hsa-miR-298 hsa-miR-3613-3p hsa-miR-3148

		SwitchGear 3'UTR luciferase reporter plasmid: ARNT 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for ARNT
		Predesigned siRNA for gene silencing in human, mouse, rat ARNT

Clone Products:		OriGene clones in human, mouse for ARNT (see all 19) OriGene ORF clones in mouse, rat for ARNT OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): ARNT (NM_001197325)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARNT
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARNT

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for ARNT
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat ARNT
		QuantiTect SYBR Green Assays in human, mouse, rat ARNT
		QuantiFast Probe-based Assays in human, mouse, rat ARNT

Additional mRNA sequence:

AB209877.1 AF001307.1 AK290177.1 AK291705.1 AK293027.1 AK304772.1 AK313780.1 AK315812.1

AL834279.1 BC028362.1 BC041121.1 M69238.1

16 DOTS entries:

DT.314972 DT.97775620 DT.99999712 DT.100817994 DT.100817997 DT.307072 DT.91775236 DT.95174379

DT.97769983 DT.97805283 DT.100644213 DT.121612109 DT.307073 DT.92015158 DT.95215706 DT.40128863

Selected AceView cDNA sequences (see all 688):

BU789912 AA621015 AW189642 AW515045 AI668806 BU786743 AI634200 AI075389

NM_000396 CA398154 AW511918 BU617903 BX645708 BU618541 BF724341 AW073933

AI372902 CA397425 BM467721 BM698970 BU789639 AW269323 BM708594 CA441899

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARNT (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8a	·	8b	^	9a	·	9b	^	10	^	11a	·	11b	^	12a	·	12b	·	12c	^	13a	·	13b	^	14	^	15	^	16	^	17	^
SP1:																			-						-										-		-
SP2:							-												-						-										-
SP3:							-												-						-										-
SP4:							-												-						-								-		-		-		-		-		-		-		-		-		-
SP5:							-

ExUns:	18	^	19	^	20	^	21a	·	21b	^	22	^	23a	·	23b	·	23c	·	23d
SP1:
SP2:
SP3:
SP4:	-		-		-		-
SP5:

ECgene alternative splicing isoforms for ARNT

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

About this image

ARNT expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 8) fully expand


Tooth (Integumentary System) fully expand to see all 4 entries
Inner Enamel Epithelial Cells Dental Enamel
Dentin

Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Epithelial Cells
Inner Enamel Epithelial Cells Dental Enamel

Bone (Muscoskeletal System)
Bone Marrow

ARNT Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

ARNT Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.632446

Pathway & Disease-focused RT² Profiler PCR Arrays including ARNT (see all 9):

Cancer PathwayFinder in human mouse rat

VEGF Signaling in human mouse rat

Nuclear Receptors & Coregulators in human mouse rat

Hypoxia Signaling Pathway in human mouse rat

Stress & Toxicity PathwayFinder in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for ARNT
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat ARNT
		QuantiTect SYBR Green Assays in human, mouse, rat ARNT
		QuantiFast Probe-based Assays in human, mouse, rat ARNT

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARNT

(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 animals.

Orthologs for ARNT gene from Selected species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Arnt^{1 , 5}	aryl hydrocarbon receptor nuclear translocator^{1, 5}	89.69(n)¹ 91.89(a)¹		3 (40.74 cM)⁵ 11863¹ NM_001037737.2¹ NP_001032826.1¹ 95434388⁵
chicken (Gallus gallus)	Aves	ARNT¹	aryl hydrocarbon receptor nuclear translocator	76.36(n) 80.95(a)		374026 NM_204200.1 NP_989531.1
lizard (Anolis carolinensis)	Reptilia	ARNT⁶	aryl hydrocarbon receptor nuclear translocator	79(a)	1 ↔ 1	GL343893.1(6854-47998)
African clawed frog (Xenopus laevis)	Amphibia	BC061940.1²	--	78.84(n)		BC061940.1
zebrafish (Danio rerio)	Actinopterygii	arnt⁶	aryl hydrocarbon receptor nuclear translocator	57(a)	1 ↔ 1	16(5510608-5554436) ENSDARG00000021855
fruit fly (Drosophila melanogaster)	Insecta	tgo³	tracheal system development (sensu Insecta) RNA more	62(a)		85C2 --
worm (Caenorhabditis elegans)	Secernentea	aha-1³	aryl hydrocarbon receptor nuclear translocator	47(a)		I(10202213-10205044) --

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

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

ARNT2² CLOCK² NPAS2² AHR² EPAS1² NPAS3² HIF1A² SIM2²

SIM1² HIF3A² ARNTL² NPAS1² ARNTL2² AHRR²

6 SIMAP similar genes for ARNT using alignment to 9 protein entries: ARNT_HUMAN (see all proteins):

DKFZp686M216 ARNT2 NPAS2 ARNTL2 ARNTL CLOCK

ARNT 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), 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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10305752^1,2	C,F	--	122160867(-)	`GGGCC-/CTGGAC`	3	--	ut3¹		1		NS	148
rs36093809^1,2	C	--	122212716(+)	`AAAAA-/A/AA GTTCA`	3	--	int¹		1		NA	2
rs201604664^1,2		--	122214899(+)	`AAATA-/AAAT AATAA`	3	--	int¹		0	--	--	--	--
rs71580328^1,2	C	--	150783934(+)	`GTGCG-/CA /CACACACAC`	6	--	ut3¹		1		NA	2
rs58630631^1,2	C	--	150783954(+)	`ACACA-/CACA/CACACA/CA CACACA/CACATACACATACAC`	12	--	ut3¹ cds¹		1		NA	2
rs199531175^1,2	C	--	150786110(+)	`TTTTT-/TATTTT`	3	--	int¹		0	--	--	--	--
rs72704634^1,2		--	150788209(+)	`GCGGGC/TGCCTG`	3	--	int¹		0	--	--	--	--
rs78903791^1,2	C,F	--	150788240(+)	`AAGGCA/TGAGGC`	3	--	int¹		1		WA	2
rs35003478^1,2	C	--	150788339(+)	`AAAAAA/-AAAAA`	3	--	int¹		1		NA	2
rs35672926^1,2	C	--	150790289(+)	`AAAAA-/A/AA TTAAC`	3	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ARNT (150782181 - 150849244 bp)

Structural Variations
Database of Genomic Variants (DGV) 6 variations for ARNT: About this table

Variant ID	Type	Subtype	PubMed ID
nsv2788	CNV	Loss	18451855
nsv872420	CNV	Loss	21882294
nsv437169	CNV	Loss	16327808
nsv2810	CNV	Loss	18451855
esv5926	CNV	Gain	19470904
nsv872418	CNV	Gain	21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 126110 OMIM disorders: --

Selected diseases for ARNT (see all 39): About MalaCards

hypoxia acute myeloid leukemia estrogen-receptor negative breast cancer neuromuscular disease

endometriosis retinal detachment vitiligo insulinoma

leukemia pituitary adenoma lung cancer susceptibility breast cancer

infertility retinoblastoma lymphoblastic leukemia herpes simplex

thyroid cancer ovarian cancer adenoma prostate cancer

ARNT for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Selected Novoseek inferred disease relationships for ARNT gene (see all 14) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
endometriosis	19.5	9	16084889 (4), 10724351 (2), 11452142 (1), 11393538 (1) (see all 5)
tumors	15.8	6	11457733 (1), 19145330 (1), 11309328 (1), 19339211 (1) (see all 5)
cancer	14.1	2	11457733 (1), 15479785 (1)
breast cancer	8.75	6	11309328 (3), 16567799 (1), 12761348 (1)
carcinoma	4.5	2	10928066 (1)
gastric cancer	3.05	6	19287200 (2), 15199114 (1), 19738050 (1)
solid tumor	0.498	1	9223322 (1)
leukemia	0	2	16547490 (1), 14766942 (1)
herpes simplex	0	1	10545212 (1)
shock	0	3	8396713 (2), 9498548 (1)

Genetic Association Database (GAD): ARNT
Human Genome Epidemiology (HuGE) Navigator: ARNT (34 documents)

Export disorders for ARNT 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 ARNT gene, integrated from 10 sources (see all 366):
(articles sorted by number of sources associating them with ARNT)

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

Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis. (PubMed id 18366646)^{1, 4, 9} Das S.K....Elbein S.C. (BMC Med. Genet. 2008)
The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility. (PubMed id 17559847)^{1, 4, 9} Merisalu A....Salumets A. (Fertil. Steril. 2007)
The aryl hydrocarbon receptor nuclear translocator gene polymorphism in patients with recurrent miscarriage. (PubMed id 16364012)^{1, 4, 9} Sullivan A.E....Silver R.M. (Am. J. Reprod. Immunol. 2006)
Analysis of the AhR, ARNT, and AhRR gene polymorphisms: genetic contribution to endometriosis susceptibility and severity. (PubMed id 16084889)^{1, 4, 9} Tsuchiya M.... Ikenoue T. (Fertil. Steril. 2005)
Identification of the Ah receptor nuclear translocator protein (Arnt) as a component of the DNA binding form of the Ah receptor. (PubMed id 1317062)^{1, 2, 9} Reyes H.... Hankinson O. (Science 1992)
Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension. (PubMed id 7539918)^{1, 2, 9} Wang G.L.... Semenza G.L. (Proc. Natl. Acad. Sci. U.S.A. 1995)
Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis of polymorphism in endometriosis. (PubMed id 11393538)^{1, 4, 9} Watanabe T....Inazawa J. (J. Hum. Genet. 2001)
Functional characterization of DNA-binding domains of the subunits of the heterodimeric aryl hydrocarbon receptor complex imputing novel and canonical basic helix-loop-helix protein-DNA interactions. (PubMed id 8621524)^{1, 2, 9} Bacsi S.G. and Hankinson O. (J. Biol. Chem. 1996)
Genetic variation in the bioactivation pathway for polycyclic hydrocarbons and heterocyclic amines in relation to risk of colorectal neoplasia. (PubMed id 21081473)^{1, 4} Wang H....Le Marchand L. (Carcinogenesis 2011)
Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)^{1, 4} Guey L.T....Malats N. (Eur. Urol. 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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: 405	HGNC: 700	AceView: CTSKandARNT	Ensembl:ENSG00000143437	euGenes: HUgn405
ECgene: ARNT	Kegg: 405	H-InvDB: ARNT

(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 ARNT	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ARNT	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/arnt/

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

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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Aryl Hydrocarbon Receptor Nuclear Translocator

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