2. Gene
  3. ARNT2 - aryl hydrocarbon receptor nuclear translocator 2 Gene

ARNT2 - aryl hydrocarbon receptor nuclear translocator 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as WEDAS; bHLHe1

Gene ID: 9915 | Gene type: protein coding

About ARNT2

Cytogenetic location: 15q25.1 Genomic coordinates (GRCh38): 15:80,404,382-80,597,933 (from NCBI)

This gene has 8 transcripts (splice variants), 215 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 65.1), kidney (RPKM 9.7) and 5 other tissues.

Summary

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]

ARNT2 Products(1)

mRNA Protein Name
NM_014862.4 NP_055677.3 aryl hydrocarbon receptor nuclear translocator 2

ARNT2 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (65 - 116)

PAS

PAS: PAS fold (140 - 243)

PAS_11

PAS_11: PAS domain (336 - 437)

  • 0
  • 200
  • 400
  • 600
  • 717 a.a.
Protein Preferred Names Protein Names

aryl hydrocarbon receptor nuclear translocator 2

ARNT protein 2

Related Diseases

Diseases Alias
Webb-Dattani Syndrome

WEDAS

Hypothalamo-Pituitary-Frontotemporal Hypoplasia With Visual And Renal Anomalies
Septooptic Dysplasia

Septo-Optic Dysplasia

De Morsier Syndrome

Growth Hormone Deficiency With Pituitary Anomalies

SOD

Pituitary Hormone Deficiency, Combined, 5

Septo-Optic Dysplasia Spectrum

Septo-Optic Dysplasia With Growth Hormone Deficiency

Pituitary Hormone Deficiency, Combined 5

Hypopituitarism And Septooptic 'Dysplasia'

GHDPA

CPHD5

Dysplasia, Septo-Optic

Kallmann Syndrome
Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To
Atrial Septal Defect 6

ASD6

Atrial Heart Septal Defect 6

Septal Defect, Atrial, Type 6
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-10996 KHS101 / Unkown
HY-RS01012 ARNT2 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta ARNT2 VGNC VGNC:84309
Mus musculus ARNT2 MGD MGI:107188
Rattus norvegicus ARNT2 RGD RGD:2154
Felis catus ARNT2 VGNC VGNC:81035
Canis familiaris ARNT2 VGNC VGNC:53147