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Protein

Aryl hydrocarbon receptor nuclear translocator 2

Gene

ARNT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcription factor that plays a role in the development of the hypothalamo-pituitary axis, postnatal brain growth, and visual and renal function (PubMed:24022475). Specifically recognizes the xenobiotic response element (XRE).1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-1989781 PPARA activates gene expression
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-211976 Endogenous sterols
R-HSA-211981 Xenobiotics
R-HSA-8937144 Aryl hydrocarbon receptor signalling

Names & Taxonomyi

Protein namesi
Recommended name:
Aryl hydrocarbon receptor nuclear translocator 2
Short name:
ARNT protein 2
Alternative name(s):
Class E basic helix-loop-helix protein 1
Short name:
bHLHe1
Gene namesi
Name:ARNT2
Synonyms:BHLHE1, KIAA0307
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000172379.18
HGNCiHGNC:16876 ARNT2
MIMi606036 gene
neXtProtiNX_Q9HBZ2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Webb-Dattani syndrome (WEDAS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by postnatal microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, global developmental delay, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract.
See also OMIM:615926

Organism-specific databases

DisGeNETi9915
MalaCardsiARNT2
MIMi615926 phenotype
OpenTargetsiENSG00000172379
Orphaneti3157 Septo-optic dysplasia spectrum
PharmGKBiPA24995

Polymorphism and mutation databases

BioMutaiARNT2
DMDMi125987793

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001271221 – 717Aryl hydrocarbon receptor nuclear translocator 2Add BLAST717

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei42Omega-N-methylarginineBy similarity1

Keywords - PTMi

Methylation

Proteomic databases

PaxDbiQ9HBZ2
PeptideAtlasiQ9HBZ2
PRIDEiQ9HBZ2
ProteomicsDBi81615
81616 [Q9HBZ2-2]

PTM databases

iPTMnetiQ9HBZ2
PhosphoSitePlusiQ9HBZ2

Expressioni

Gene expression databases

BgeeiENSG00000172379 Expressed in 201 organ(s), highest expression level in putamen
CleanExiHS_ARNT2
ExpressionAtlasiQ9HBZ2 baseline and differential
GenevisibleiQ9HBZ2 HS

Organism-specific databases

HPAiCAB005081
HPA001056

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein (By similarity). Heterodimer with NPAS4 (PubMed:24465693). Heterodimer with SIM1 (By similarity). Heterodimer with the aryl hydrocarbon receptor (AHR) or the SIM1 protein (By similarity). Interacts with TACC3 (By similarity).By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115244, 68 interactors
IntActiQ9HBZ2, 4 interactors
STRINGi9606.ENSP00000307479

Structurei

3D structure databases

ProteinModelPortaliQ9HBZ2
SMRiQ9HBZ2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini63 – 116bHLHPROSITE-ProRule annotationAdd BLAST54
Domaini134 – 209PAS 1PROSITE-ProRule annotationAdd BLAST76
Domaini323 – 393PAS 2PROSITE-ProRule annotationAdd BLAST71
Domaini398 – 441PACAdd BLAST44

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi73 – 76Poly-Arg4
Compositional biasi440 – 445Poly-Gln6
Compositional biasi552 – 555Poly-Ser4

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IQ5Q Eukaryota
ENOG410XS5S LUCA
GeneTreeiENSGT00760000118788
HOGENOMiHOG000234380
HOVERGENiHBG000164
InParanoidiQ9HBZ2
KOiK15589
OMAiIVEPQHY
OrthoDBiEOG091G03AI
PhylomeDBiQ9HBZ2
TreeFamiTF319983

Family and domain databases

CDDicd00083 HLH, 1 hit
cd00130 PAS, 2 hits
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR001067 Nuc_translocat
IPR001610 PAC
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR013767 PAS_fold
IPR013655 PAS_fold_3
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF00989 PAS, 1 hit
PF08447 PAS_3, 1 hit
PRINTSiPR00785 NCTRNSLOCATR
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SM00086 PAC, 1 hit
SM00091 PAS, 2 hits
SUPFAMiSSF47459 SSF47459, 1 hit
SSF55785 SSF55785, 2 hits
TIGRFAMsiTIGR00229 sensory_box, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS50112 PAS, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HBZ2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MATPAAVNPP EMASDIPGSV TLPVAPMAAT GQVRMAGAMP ARGGKRRSGM
60 70 80 90 100
DFDDEDGEGP SKFSRENHSE IERRRRNKMT QYITELSDMV PTCSALARKP
110 120 130 140 150
DKLTILRMAV SHMKSMRGTG NKSTDGAYKP SFLTEQELKH LILEAADGFL
160 170 180 190 200
FVVAAETGRV IYVSDSVTPV LNQPQSEWFG STLYEQVHPD DVEKLREQLC
210 220 230 240 250
TSENSMTGRI LDLKTGTVKK EGQQSSMRMC MGSRRSFICR MRCGNAPLDH
260 270 280 290 300
LPLNRITTMR KRFRNGLGPV KEGEAQYAVV HCTGYIKAWP PAGMTIPEED
310 320 330 340 350
ADVGQGSKYC LVAIGRLQVT SSPVCMDMNG MSVPTEFLSR HNSDGIITFV
360 370 380 390 400
DPRCISVIGY QPQDLLGKDI LEFCHPEDQS HLRESFQQVV KLKGQVLSVM
410 420 430 440 450
YRFRTKNREW MLIRTSSFTF QNPYSDEIEY IICTNTNVKQ LQQQQAELEV
460 470 480 490 500
HQRDGLSSYD LSQVPVPNLP AGVHEAGKSV EKADAIFSQE RDPRFAEMFA
510 520 530 540 550
GISASEKKMM SSASAAGTQQ IYSQGSPFPS GHSGKAFSSS VVHVPGVNDI
560 570 580 590 600
QSSSSTGQNM SQISRQLNQS QVAWTGSRPP FPGQQIPSQS SKTQSSPFGI
610 620 630 640 650
GTSHTYPADP SSYSPLSSPA TSSPSGNAYS SLANRTPGFA ESGQSSGQFQ
660 670 680 690 700
GRPSEVWSQW QSQHHGQQSG EQHSHQQPGQ TEVFQDMLPM PGDPTQGTGN
710
YNIEDFADLG MFPPFSE
Length:717
Mass (Da):78,691
Last modified:February 6, 2007 - v2
Checksum:iAC7524E97F617252
GO
Isoform 2 (identifier: Q9HBZ2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: Missing.

Show »
Length:706
Mass (Da):77,612
Checksum:i2187A3C603EC7D39
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WVE9A0A087WVE9_HUMAN
Aryl hydrocarbon receptor nuclear t...
ARNT2
716Annotation score:
H0YKW1H0YKW1_HUMAN
Aryl hydrocarbon receptor nuclear t...
ARNT2
130Annotation score:

Sequence cautioni

The sequence AAH36099 differs from that shown. Probable cloning artifact.Curated
The sequence BAA20766 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti28A → V in BX647212 (PubMed:17974005).Curated1
Sequence conflicti75R → K in BAA20766 (PubMed:9205841).Curated1
Sequence conflicti555S → P in BX647212 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07684146R → W Polymorphism; decreased transcription factor activity due to impaired localization to the nucleus. 1 PublicationCorresponds to variant dbSNP:rs140468271Ensembl.1
Natural variantiVAR_076842107R → H Polymorphism; decreased transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs371290912Ensembl.1
Natural variantiVAR_076843402R → Q Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs141193900Ensembl.1
Natural variantiVAR_076844410W → R Polymorphism; does not affect the transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs150964641Ensembl.1
Natural variantiVAR_049538679G → S1 PublicationCorresponds to variant dbSNP:rs4072568Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0226871 – 11Missing in isoform 2. 2 PublicationsAdd BLAST11

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF185610
, AF185593, AF185594, AF185595, AF185596, AF185597, AF185598, AF185599, AF185600, AF185601, AF185602, AF185603, AF185604, AF185605, AF185606, AF185607, AF185608, AF185609 Genomic DNA Translation: AAG15310.1
AB002305 mRNA Translation: BAA20766.2 Different initiation.
AK295763 mRNA Translation: BAG58589.1
BX647212 mRNA No translation available.
CH471136 Genomic DNA Translation: EAW99114.1
BC036099 mRNA Translation: AAH36099.1 Sequence problems.
CCDSiCCDS32307.1 [Q9HBZ2-1]
RefSeqiNP_055677.3, NM_014862.3 [Q9HBZ2-1]
UniGeneiHs.459070

Genome annotation databases

EnsembliENST00000303329; ENSP00000307479; ENSG00000172379 [Q9HBZ2-1]
ENST00000527771; ENSP00000453792; ENSG00000172379 [Q9HBZ2-2]
ENST00000533983; ENSP00000453651; ENSG00000172379 [Q9HBZ2-2]
GeneIDi9915
KEGGihsa:9915
UCSCiuc010unm.3 human [Q9HBZ2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF185610
, AF185593, AF185594, AF185595, AF185596, AF185597, AF185598, AF185599, AF185600, AF185601, AF185602, AF185603, AF185604, AF185605, AF185606, AF185607, AF185608, AF185609 Genomic DNA Translation: AAG15310.1
AB002305 mRNA Translation: BAA20766.2 Different initiation.
AK295763 mRNA Translation: BAG58589.1
BX647212 mRNA No translation available.
CH471136 Genomic DNA Translation: EAW99114.1
BC036099 mRNA Translation: AAH36099.1 Sequence problems.
CCDSiCCDS32307.1 [Q9HBZ2-1]
RefSeqiNP_055677.3, NM_014862.3 [Q9HBZ2-1]
UniGeneiHs.459070

3D structure databases

ProteinModelPortaliQ9HBZ2
SMRiQ9HBZ2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115244, 68 interactors
IntActiQ9HBZ2, 4 interactors
STRINGi9606.ENSP00000307479

PTM databases

iPTMnetiQ9HBZ2
PhosphoSitePlusiQ9HBZ2

Polymorphism and mutation databases

BioMutaiARNT2
DMDMi125987793

Proteomic databases

PaxDbiQ9HBZ2
PeptideAtlasiQ9HBZ2
PRIDEiQ9HBZ2
ProteomicsDBi81615
81616 [Q9HBZ2-2]

Protocols and materials databases

DNASUi9915
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303329; ENSP00000307479; ENSG00000172379 [Q9HBZ2-1]
ENST00000527771; ENSP00000453792; ENSG00000172379 [Q9HBZ2-2]
ENST00000533983; ENSP00000453651; ENSG00000172379 [Q9HBZ2-2]
GeneIDi9915
KEGGihsa:9915
UCSCiuc010unm.3 human [Q9HBZ2-1]

Organism-specific databases

CTDi9915
DisGeNETi9915
EuPathDBiHostDB:ENSG00000172379.18
GeneCardsiARNT2
H-InvDBiHIX0012493
HGNCiHGNC:16876 ARNT2
HPAiCAB005081
HPA001056
MalaCardsiARNT2
MIMi606036 gene
615926 phenotype
neXtProtiNX_Q9HBZ2
OpenTargetsiENSG00000172379
Orphaneti3157 Septo-optic dysplasia spectrum
PharmGKBiPA24995
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQ5Q Eukaryota
ENOG410XS5S LUCA
GeneTreeiENSGT00760000118788
HOGENOMiHOG000234380
HOVERGENiHBG000164
InParanoidiQ9HBZ2
KOiK15589
OMAiIVEPQHY
OrthoDBiEOG091G03AI
PhylomeDBiQ9HBZ2
TreeFamiTF319983

Enzyme and pathway databases

ReactomeiR-HSA-1989781 PPARA activates gene expression
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-211976 Endogenous sterols
R-HSA-211981 Xenobiotics
R-HSA-8937144 Aryl hydrocarbon receptor signalling

Miscellaneous databases

ChiTaRSiARNT2 human
GeneWikiiARNT2
GenomeRNAii9915
PROiPR:Q9HBZ2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172379 Expressed in 201 organ(s), highest expression level in putamen
CleanExiHS_ARNT2
ExpressionAtlasiQ9HBZ2 baseline and differential
GenevisibleiQ9HBZ2 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
cd00130 PAS, 2 hits
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR001067 Nuc_translocat
IPR001610 PAC
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR013767 PAS_fold
IPR013655 PAS_fold_3
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF00989 PAS, 1 hit
PF08447 PAS_3, 1 hit
PRINTSiPR00785 NCTRNSLOCATR
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SM00086 PAC, 1 hit
SM00091 PAS, 2 hits
SUPFAMiSSF47459 SSF47459, 1 hit
SSF55785 SSF55785, 2 hits
TIGRFAMsiTIGR00229 sensory_box, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS50112 PAS, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiARNT2_HUMAN
AccessioniPrimary (citable) accession number: Q9HBZ2
Secondary accession number(s): B4DIS7, O15024, Q8IYC2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: February 6, 2007
Last modified: November 7, 2018
This is version 167 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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