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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
  • Aryl Hydrocarbon Receptor Nuclear Translocator 2 3
  • KIAA0307 4
  • WEDAS 3

External Ids for ARNT2 Gene

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 hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies. Among its related pathways are Pathways in cancer and Development HGF signaling pathway. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity 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

Genomic Location for ARNT2 Gene

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

Regulatory Elements 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 for ARNT2 Gene

Gene Families for ARNT2 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

UniProtKB/Swiss-Prot:

ARNT2_HUMAN
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.:
    • Q9HBZ2
  • Contains 1 PAC (PAS-associated C-terminal) domain.:
    • Q9HBZ2
  • Contains 2 PAS (PER-ARNT-SIM) domains.:
    • Q9HBZ2
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:0003677 DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity ISS --
GO:0004871 signal transducer activity IEA --
GO:0005515 protein binding --
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:

miRNA for ARNT2 Gene

miRTarBase miRNAs that target ARNT2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
cytosol 2
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 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 IEA --
GO:0006355 regulation of transcription, DNA-templated IDA 11782478
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with ARNT2: view

Compounds for ARNT2 Gene

(1) Novoseek inferred chemical compound relationships for ARNT2 Gene

Compound -log(P) Hits PubMed IDs
oxygen 10.9 2
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:

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Cortex (5.1), Brain - Nucleus accumbens (basal ganglia) (5.0), Brain - Frontal Cortex (BA9) (4.8), Brain - Anterior cingulate cortex (BA24) (4.6), Brain - Caudate (basal ganglia) (4.5), Brain - Amygdala (4.3), Brain - Putamen (basal ganglia) (4.2), and Brain - Hippocampus (4.0).

Integrated Proteomics: protein expression 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 expressions with ARNT2: view

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 36
  • 99.58 (n)
  • 100 (a)
ARNT2 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 97 (a)
OneToMany
ARNT2 36
  • 90.75 (n)
  • 98.61 (a)
ARNT2 37
  • 94 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ARNT2 36
  • 90.15 (n)
  • 98.59 (a)
ARNT2 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arnt2 36
  • 89.04 (n)
  • 97.75 (a)
Arnt2 16
Arnt2 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARNT2 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARNT2 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arnt2 36
  • 88.86 (n)
  • 97.47 (a)
chicken
(Gallus gallus)
Aves ARNT2 36
  • 82.5 (n)
  • 95.39 (a)
ARNT2 37
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARNT2 37
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arnt2 36
  • 77.17 (n)
  • 88.66 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 36
arnt2 36
  • 75.42 (n)
  • 85.75 (a)
arnt2 37
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta tgo 37
  • 46 (a)
OneToMany
tgo 38
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea aha-1 37
  • 48 (a)
OneToMany
aha-1 38
  • 48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1118 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2012 37
  • 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

Selected 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
rs895444 -- 80,457,420(+) CAACC(A/G)GTAGT intron-variant
rs1020397 -- 80,426,396(+) CAGCT(C/G)GGGGA 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

Relevant External Links for ARNT2 Gene

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

Disorders for ARNT2 Gene

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

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 L.L. … Murray J.C. (Teratology 2002) 3 4 23
  2. Hypoxia-inducible erythropoietin gene expression in human neuroblastoma cells. (PMID: 12239177) Stolze I. … Fandrey J. (Blood 2002) 3 23
  3. Separate necdin domains bind ARNT2 and HIF1alpha and repress transcription. (PMID: 17826745) Friedman E.R. … Fan C.M. (Biochem. Biophys. Res. Commun. 2007) 3 23
  4. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 3 4
  5. Identification of mesoderm development (mesd) candidate genes by comparative mapping and genome sequence analysis. (PMID: 11247670) Wines M.E. … Holdener B.C. (Genomics 2001) 2 3

Products for ARNT2 Gene

Sources for ARNT2 Gene

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