ARNT2 - aryl hydrocarbon receptor nuclear translocator 2 Gene

Also Known as WEDAS; bHLHe1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9915

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	References	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	References	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	References	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

PAS

PAS_11

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	References
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01012	ARNT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ARNT2	NCBI