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

ARNT2 - aryl hydrocarbon receptor nuclear translocator 2 Gene

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
24465693 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
24465693 GOA
enables protein heterodimerization activity IDA
IDA: Inferred from direct assay
24465693 GOA
enables protein heterodimerization activity IPI
IPI: Inferred from physical interaction
12239177 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Reference Source
involved in brain development IMP
IMP: Inferred from mutant phenotype
24022475 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
24465693 GOA
acts upstream of or within regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
11782478 GOA
involved in response to hypoxia IDA
IDA: Inferred from direct assay
12239177 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
12239177 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

ARNT2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ARNT2 Q9HBZ2 LMO2 Homo sapiens P25791-3
Validated Y2H
32296183
Intra
ARNT2 Q9HBZ2 FAAP20 Homo sapiens Q6NZ36-4
Validated Y2H
32296183
Intra
ARNT2 Q9HBZ2 SIM1 Homo sapiens P81133
Validated Y2H
32296183
Intra
ARNT2 Q9HBZ2 CAPN7 Homo sapiens Q9Y6W3
Validated Y2H
32296183
Intra
ARNT2 Q9HBZ2 AP3M1 Homo sapiens Q9Y2T2
Validated Y2H
32296183
Intra
ARNT2 Q9HBZ2 LMO4 Homo sapiens P61968
Validated Y2H
32296183
Intra
ARNT2 Q9HBZ2 PSMB1 Homo sapiens P20618
Validated Y2H
32296183
Intra
ARNT2 Q9HBZ2 AP1M1 Homo sapiens Q9BXS5
Validated Y2H
32296183
Intra
ARNT2 Q9HBZ2 DTX2 Homo sapiens Q86UW9
Y2H Array
24722188
Intra
ARNT2 Q9HBZ2 DTX2 Homo sapiens Q86UW9
Validated Y2H
32296183
Intra
ARNT2 Q9HBZ2 STK16 Homo sapiens O75716
Validated Y2H
32296183
Intra
ARNT2 Q9HBZ2 OSGIN1 Homo sapiens Q9UJX0
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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