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Aliases for ARNT2 Gene

Aliases for ARNT2 Gene

  • Aryl-Hydrocarbon Receptor Nuclear Translocator 2 2 3
  • Class E Basic Helix-Loop-Helix Protein 1 3 4
  • ARNT Protein 2 3 4
  • BHLHe1 3 4
  • KIAA0307 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 hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies and webb-dattani syndrome. Among its related pathways are Pathways in cancer and Development HGF signaling pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and signal transducer activity. An important paralog of this gene is AHRR.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARNT2 Gene

Genomics for ARNT2 Gene

Regulatory Elements for ARNT2 Gene

Epigenetics Products

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

Genomic Location for ARNT2 Gene

Chromosome:
15
Start:
80,404,350 bp from pter
End:
80,597,937 bp from pter
Size:
193,588 bases
Orientation:
Plus strand

Genomic View for ARNT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Heterodimer with the aryl hydrocarbon receptor (AHR) or the SIM1 protein. 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=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARNT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARNT2 Gene

Proteomics data for ARNT2 Gene at MOPED

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

Suggested Antigen Peptide Sequences for ARNT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HBZ2

UniProtKB/Swiss-Prot:

ARNT2_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 PAC (PAS-associated C-terminal) domain.
  • Contains 2 PAS (PER-ARNT-SIM) domains.
genes like me logo Genes that share domains with ARNT2: view

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).

Gene Ontology (GO) - Molecular Function for ARNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding --
GO:0003700 transcription factor activity, sequence-specific DNA binding ISS --
GO:0017162 aryl hydrocarbon receptor binding ISS --
genes like me logo Genes that share ontologies with ARNT2: view
genes like me logo Genes that share phenotypes with ARNT2: view

Animal Models for ARNT2 Gene

MGI Knock Outs for ARNT2:

Animal Model Products

miRNA for ARNT2 Gene

miRTarBase miRNAs that target ARNT2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARNT2

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for ARNT2 Gene COMPARTMENTS Subcellular localization image for ARNT2 gene
Compartment Confidence
nucleus 5
mitochondrion 2

Gene Ontology (GO) - Cellular Components for ARNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12239177
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

Pathways by source for ARNT2 Gene

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:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated IDA 11782478
GO:0006366 transcription from RNA polymerase II promoter IEA --
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) Additional Compounds for ARNT2 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
genes like me logo Genes that share compounds with ARNT2: view

Transcripts for ARNT2 Gene

Unigene Clusters for ARNT2 Gene

Aryl-hydrocarbon receptor nuclear translocator 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARNT2

Flow Cytometry 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
ECgene alternative splicing isoforms for
ARNT2

Expression for ARNT2 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for ARNT2 Gene



SOURCE GeneReport for Unigene cluster for ARNT2 Gene Hs.459070

genes like me logo Genes that share expression patterns with ARNT2: view

Protein tissue co-expression partners for ARNT2 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia ARNT2 35
  • 90.75 (n)
  • 98.61 (a)
-- 36
  • 97 (a)
OneToMany
ARNT2 36
  • 94 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ARNT2 35
  • 90.15 (n)
  • 98.59 (a)
ARNT2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arnt2 35
  • 89.04 (n)
  • 97.75 (a)
Arnt2 16
Arnt2 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARNT2 35
  • 99.58 (n)
  • 100 (a)
ARNT2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arnt2 35
  • 88.86 (n)
  • 97.47 (a)
oppossum
(Monodelphis domestica)
Mammalia ARNT2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARNT2 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARNT2 35
  • 82.5 (n)
  • 95.39 (a)
ARNT2 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARNT2 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arnt2 35
  • 77.17 (n)
  • 88.66 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
arnt2 35
  • 75.42 (n)
  • 85.75 (a)
arnt2 36
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tgo 37
  • 63 (a)
tgo 36
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea aha-1 37
  • 48 (a)
aha-1 36
  • 48 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1118 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2012 36
  • 49 (a)
OneToMany
Species with no ortholog for ARNT2:
  • 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)

Paralogs for ARNT2 Gene

Paralogs for ARNT2 Gene

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

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

Variants for ARNT2 Gene

Sequence variations from dbSNP and Humsavar for ARNT2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs1912 -- 80,431,019(-) AAGAT(A/G)GGCAG intron-variant
rs7484 -- 80,597,760(+) TTAAG(C/T)ACTTA utr-variant-3-prime
rs9801 -- 80,597,848(+) TAACA(C/G)TTATT utr-variant-3-prime
rs895442 -- 80,437,187(+) TGCTC(C/T)AGCAT intron-variant
rs895444 -- 80,457,420(+) CAACC(A/G)GTAGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv471685 CNV Gain 15918152
esv273251 CNV Insertion 20981092
esv2749945 CNV Deletion 23290073
esv2004346 CNV Deletion 18987734

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)

Relevant External Links for ARNT2 Gene

HapMap Linkage Disequilibrium report
ARNT2
Human Gene Mutation Database (HGMD)
ARNT2

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

Disorders for ARNT2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies
webb-dattani syndrome
  • hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies
adenoid hypertrophy
  • adenoidal hypertrophy
asperger syndrome
  • asperger disorder
hypoxia
- elite association
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.

Relevant External Links for ARNT2

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

No data available for Genatlas for ARNT2 Gene

Publications for ARNT2 Gene

  1. Characterization of functional heterodimer partners in brain for a bHLH-PAS factor NXF. (PMID: 19284974) Ooe N. … Kaneko H. (Biochim. Biophys. Acta 2009) 23 67
  2. Characterization of Drosophila and Caenorhabditis elegans NXF-like-factors, putative homologs of mammalian NXF. (PMID: 17628356) Ooe N. … Kaneko H. (Gene 2007) 23 67
  3. Separate necdin domains bind ARNT2 and HIF1alpha and repress transcription. (PMID: 17826745) Friedman E.R. … Fan C.M. (Biochem. Biophys. Res. Commun. 2007) 23 67
  4. Neuronal PAS domain protein 1 is a transcriptional repressor and requires arylhydrocarbon nuclear translocator for its nuclear localization. (PMID: 16954219) Teh C.H. … Lim T.M. (J. Biol. Chem. 2006) 23 67
  5. Sim2 contributes to neuroendocrine hormone gene expression in the anterior hypothalamus. (PMID: 14988428) Goshu E. … Fan C.M. (Mol. Endocrinol. 2004) 23 67

Products for ARNT2 Gene

Sources for ARNT2 Gene

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