This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, ... See more...

Aliases for ARNT2 Gene

Aliases for ARNT2 Gene

  • Aryl Hydrocarbon Receptor Nuclear Translocator 2 2 3 4 5
  • Class E Basic Helix-Loop-Helix Protein 1 3 4
  • ARNT Protein 2 3 4
  • BHLHe1 3 4
  • KIAA0307 4
  • BHLHE1 4
  • WEDAS 3

External Ids for ARNT2 Gene

Previous GeneCards Identifiers for ARNT2 Gene

  • GC15M076819
  • GC15P073853
  • GC15P078272
  • GC15P078412
  • GC15P078484
  • GC15P080696
  • GC15P057454

Summaries for ARNT2 Gene

Entrez Gene Summary for ARNT2 Gene

  • This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]

GeneCards Summary for ARNT2 Gene

ARNT2 (Aryl Hydrocarbon Receptor Nuclear Translocator 2) is a Protein Coding gene. Diseases associated with ARNT2 include Webb-Dattani Syndrome and Septooptic Dysplasia. Among its related pathways are Cytochrome P450 - arranged by substrate type and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and obsolete signal transducer activity. An important paralog of this gene is ARNT.

UniProtKB/Swiss-Prot Summary for ARNT2 Gene

  • 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).

Gene Wiki entry for ARNT2 Gene

Additional gene information for ARNT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARNT2 Gene

Genomics for ARNT2 Gene

GeneHancer (GH) Regulatory Elements for ARNT2 Gene

Promoters and enhancers for ARNT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J080403 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 521.5 +0.4 351 2.6 ZNF217 USF1 PHF8 ZFX ZIC2 ZNF423 ZBTB26 ZNF341 EZH2 POLR2A ARNT2 ENSG00000259495 HSALNG0107599
GH15J080402 Enhancer 0.4 CraniofacialAtlas dbSUPER 500.7 -1.3 -1291 0.4 TAF1 ARNT2 ENSG00000259495 CTXND1 lnc-ARNT2-1
GH15J080614 Enhancer 1.2 Ensembl ENCODE dbSUPER 24.9 +211.7 211701 2.6 NCOR1 TCF7 CUX1 ZNF662 EP300 SKI GATAD2B CTBP1 ZNF148 HES1 MG828535 ARNT2 RNU6-380P CEMIP piR-43676-014
GH15J080595 Enhancer 1 Ensembl ENCODE dbSUPER 15.5 +192.1 192063 2.4 KDM6A ZBTB26 NFIC SAP130 FOSL2 SMAD4 NFIB RARA NR2F6 HMG20A ARNT2 MG828535 MIR5572
GH15J080476 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +77.3 77274 9.5 JUND FOS ZIC2 REST ZNF423 ZNF341 OSR2 NR2F2 TCF12 FOXP1 CEMIP ARNT2 piR-60146-048 ENSG00000258010
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARNT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARNT2

Top Transcription factor binding sites by QIAGEN in the ARNT2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • NF-kappaB
  • NF-kappaB1
  • Pax-4a
  • S8

Genomic Locations for ARNT2 Gene

Genomic Locations for ARNT2 Gene
chr15:80,404,350-80,597,937
(GRCh38/hg38)
Size:
193,588 bases
Orientation:
Plus strand
chr15:80,696,692-80,890,278
(GRCh37/hg19)
Size:
193,587 bases
Orientation:
Plus strand

Genomic View for ARNT2 Gene

Genes around ARNT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARNT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARNT2 Gene

Proteins for ARNT2 Gene

  • Protein details for ARNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBZ2-ARNT2_HUMAN
    Recommended name:
    Aryl hydrocarbon receptor nuclear translocator 2
    Protein Accession:
    Q9HBZ2
    Secondary Accessions:
    • B4DIS7
    • O15024
    • Q8IYC2

    Protein attributes for ARNT2 Gene

    Size:
    717 amino acids
    Molecular mass:
    78691 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAH36099.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAA20766.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARNT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARNT2 Gene

Post-translational modifications for ARNT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARNT2 Gene

No data available for DME Specific Peptides for ARNT2 Gene

Domains & Families for ARNT2 Gene

Gene Families for ARNT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ARNT2 Gene

Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
  • PAC motif
  • PAS fold-3
  • PAS domain
  • Nuclear translocator signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARNT2 Gene

GenScript: Design optimal peptide antigens:
  • Class E basic helix-loop-helix protein 1 (ARNT2_HUMAN)
  • ARNT2 protein (Q86TN1_HUMAN)
genes like me logo Genes that share domains with ARNT2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARNT2 Gene

Function for ARNT2 Gene

Molecular function for ARNT2 Gene

UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for ARNT2 Gene

Gene Ontology (GO) - Molecular Function for ARNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IDA,NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA,ISS --
genes like me logo Genes that share ontologies with ARNT2: view
genes like me logo Genes that share phenotypes with ARNT2: view

Human Phenotype Ontology for ARNT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARNT2 Gene

MGI Knock Outs for ARNT2:

Animal Model Products

CRISPR Products

miRNA for ARNT2 Gene

miRTarBase miRNAs that target ARNT2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ARNT2 Gene

Localization for ARNT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARNT2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARNT2 gene
Compartment Confidence
nucleus 5
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IDA 12239177
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ARNT2: view

Pathways & Interactions for ARNT2 Gene

genes like me logo Genes that share pathways with ARNT2: view

Gene Ontology (GO) - Biological Process for ARNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 12239177
GO:0001701 in utero embryonic development ISS --
GO:0006355 regulation of transcription, DNA-templated IDA,IEA 11782478
GO:0006805 xenobiotic metabolic process TAS --
GO:0007417 central nervous system development ISS --
genes like me logo Genes that share ontologies with ARNT2: view

No data available for SIGNOR curated interactions for ARNT2 Gene

Drugs & Compounds for ARNT2 Gene

(1) Drugs for ARNT2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ARNT2: view

Transcripts for ARNT2 Gene

mRNA/cDNA for ARNT2 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARNT2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
SP1: - - -
SP2: -
SP3:
SP4: - -
SP5: -

Relevant External Links for ARNT2 Gene

GeneLoc Exon Structure for
ARNT2

Expression for ARNT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARNT2 Gene

mRNA differential expression in normal tissues according to GTEx for ARNT2 Gene

This gene is overexpressed in Brain - Cortex (x5.1), Brain - Nucleus accumbens (basal ganglia) (x5.0), Brain - Frontal Cortex (BA9) (x4.8), Brain - Anterior cingulate cortex (BA24) (x4.6), Brain - Caudate (basal ganglia) (x4.5), Brain - Amygdala (x4.3), Brain - Putamen (basal ganglia) (x4.2), and Brain - Hippocampus (x4.0).

Protein differential expression in normal tissues from HIPED for ARNT2 Gene

This gene is overexpressed in Monocytes (68.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ARNT2 Gene



Protein tissue co-expression partners for ARNT2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARNT2

SOURCE GeneReport for Unigene cluster for ARNT2 Gene:

Hs.459070

Evidence on tissue expression from TISSUES for ARNT2 Gene

  • Nervous system(5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ARNT2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • testicle
  • ureter
  • urinary bladder
  • uterus
Limb:
  • femur
  • hip
  • lower limb
  • thigh
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ARNT2: view

No data available for mRNA Expression by UniProt/SwissProt for ARNT2 Gene

Orthologs for ARNT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARNT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARNT2 31 30
  • 99.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 31
  • 97 (a)
OneToMany
ARNT2 31 30
  • 90.75 (n)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ARNT2 31
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARNT2 31
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARNT2 31 30
  • 90.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arnt2 17 31 30
  • 89.04 (n)
rat
(Rattus norvegicus)
Mammalia Arnt2 30
  • 88.86 (n)
chicken
(Gallus gallus)
Aves ARNT2 31 30
  • 82.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARNT2 31
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arnt2 30
  • 77.17 (n)
zebrafish
(Danio rerio)
Actinopterygii arnt2 31 30
  • 75.42 (n)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta tgo 31 32
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aha-1 31 32
  • 48 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2012 31
  • 49 (a)
OneToMany
Cin.1118 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1118 30
Species where no ortholog for ARNT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARNT2 Gene

ENSEMBL:
Gene Tree for ARNT2 (if available)
TreeFam:
Gene Tree for ARNT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARNT2: view image

Paralogs for ARNT2 Gene

Paralogs for ARNT2 Gene

(4) SIMAP similar genes for ARNT2 Gene using alignment to 3 proteins:

  • ARNT2_HUMAN
  • H0YKW1_HUMAN
  • Q86TN1_HUMAN
genes like me logo Genes that share paralogs with ARNT2: view

Variants for ARNT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARNT2 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs774221151 Uncertain Significance: not provided 80,593,657(+) G/T MISSENSE_VARIANT
rs140468271 - p.Arg46Trp
rs141193900 - p.Arg402Gln
rs150964641 - p.Trp410Arg
rs371290912 - p.Arg107His

Additional dbSNP identifiers (rs#s) for ARNT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ARNT2 Gene

Variant ID Type Subtype PubMed ID
esv2004346 CNV deletion 18987734
esv2749945 CNV deletion 23290073
esv3365028 CNV duplication 20981092
esv3382229 CNV insertion 20981092
esv3428165 CNV insertion 20981092
esv3581780 CNV loss 25503493
esv3637019 CNV loss 21293372
nsv471685 CNV gain 15918152
nsv570235 CNV loss 21841781

Variation tolerance for ARNT2 Gene

Residual Variation Intolerance Score: 5.49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.85; 74.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARNT2 Gene

Human Gene Mutation Database (HGMD)
ARNT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARNT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARNT2 Gene

Disorders for ARNT2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ARNT2 Gene - From: OMIM, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
webb-dattani syndrome
  • wedas
septooptic dysplasia
  • de morsier syndrome
hypoxia
asperger syndrome
  • asperger disorder
microcephaly
  • microcephaly syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ARNT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARNT2_HUMAN
  • Webb-Dattani syndrome (WEDAS) [MIM:615926]: A 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. {ECO:0000269 PubMed:24022475}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ARNT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ARNT2: view

No data available for Genatlas for ARNT2 Gene

Publications for ARNT2 Gene

  1. Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts. (PMID: 12210012) Barrow LL … Murray JC (Teratology 2002) 3 4 23 54
  2. Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt function. (PMID: 24465693) Bersten DC … Whitelaw ML (PloS one 2014) 3 4 54
  3. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. (PMID: 24022475) Webb EA … Dattani MT (Brain : a journal of neurology 2013) 3 4 54
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41 54
  5. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. (PMID: 19598235) Chakrabarti B … Baron-Cohen S (Autism research : official journal of the International Society for Autism Research 2009) 3 41 54

Products for ARNT2 Gene

Sources for ARNT2 Gene