• Gene id: 9915

Gene Summary

• Gene Symbol: ARNT2   Gene   UCSC   Ensembl
• Aliases: WEDAS, bHLHe1
• Gene name: aryl hydrocarbon receptor nuclear translocator 2
• Alternate names: aryl hydrocarbon receptor nuclear translocator 2, ARNT protein 2, class E basic helix-loop-helix protein 1,
• Gene location: 15q25.1 (80404349: 80597936)     Exons: 19     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 606036

SNPs

rs5000770

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.80424141G>A
NC_000015.9   g.80716483G>A|SEQ=[G/A]|GENE=ARNT2

rs1020397

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.80426396G>A
NC_000015.10   g.80426396G>C
NC_000015.10   g.80426396G>T
NC_000015.9   g.80718738G>A
NC_000015.9   g.80718738G>C
NC_000015.9   g.80718738G>T|SEQ=[G/A/C/T]|GENE=ARNT2

Protein Summary

• Protein general information: Q9HBZ2  
  • Name: Aryl hydrocarbon receptor nuclear translocator 2 (ARNT protein 2) (Class E basic helix loop helix protein 1) (bHLHe1)
  • Length: 717  
  • Mass: 78,691
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MATPAAVNPPEMASDIPGSVTLPVAPMAATGQVRMAGAMPARGGKRRSGMDFDDEDGEGPSKFSRENHSEIERRR
  RNKMTQYITELSDMVPTCSALARKPDKLTILRMAVSHMKSMRGTGNKSTDGAYKPSFLTEQELKHLILEAADGFL
  FVVAAETGRVIYVSDSVTPVLNQPQSEWFGSTLYEQVHPDDVEKLREQLCTSENSMTGRILDLKTGTVKKEGQQS
  SMRMCMGSRRSFICRMRCGNAPLDHLPLNRITTMRKRFRNGLGPVKEGEAQYAVVHCTGYIKAWPPAGMTIPEED
  ADVGQGSKYCLVAIGRLQVTSSPVCMDMNGMSVPTEFLSRHNSDGIITFVDPRCISVIGYQPQDLLGKDILEFCH
  PEDQSHLRESFQQVVKLKGQVLSVMYRFRTKNREWMLIRTSSFTFQNPYSDEIEYIICTNTNVKQLQQQQAELEV
  HQRDGLSSYDLSQVPVPNLPAGVHEAGKSVEKADAIFSQERDPRFAEMFAGISASEKKMMSSASAAGTQQIYSQG
  SPFPSGHSGKAFSSSVVHVPGVNDIQSSSSTGQNMSQISRQLNQSQVAWTGSRPPFPGQQIPSQSSKTQSSPFGI
  GTSHTYPADPSSYSPLSSPATSSPSGNAYSSLANRTPGFAESGQSSGQFQGRPSEVWSQWQSQHHGQQSGEQHSH
  QQPGQTEVFQDMLPMPGDPTQGTGNYNIEDFADLGMFPPFSE

• Structural information:
  • Protein Domains: bHLH. (63-116)
    PAS (134-209)
    PAS (323-393)
    PAC. (398-441)
  • Interpro: IPR011598  IPR036638  IPR001067  IPR001610  IPR000014   IPR035965  IPR013767  IPR013655  
  • Prosite: PS50888 PS50112
  • CDD: cd00083 cd00130
  • STRING: ENSP00000307479
• Other Databases: GeneCards:  ARNT2  Malacards:  ARNT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IEA	molecular function
GO:0001666	response to hypoxia	IDA	biological process
GO:0001701	in utero embryonic development	ISS	biological process
GO:0003700	transcription factor activity, sequence-specific DNA binding	ISS	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005667	transcription factor complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007417	central nervous system development	ISS	biological process
GO:0007420	brain development	IMP	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0017162	aryl hydrocarbon receptor binding	ISS	molecular function
GO:0032355	response to estradiol	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IEA	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001701	in utero embryonic development	ISS	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	ISS	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005667	transcription factor complex	IEA	cellular component
GO:0005667	transcription factor complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0007417	central nervous system development	ISS	biological process
GO:0007420	brain development	IMP	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0017162	aryl hydrocarbon receptor binding	IEA	molecular function
GO:0017162	aryl hydrocarbon receptor binding	ISS	molecular function
GO:0032355	response to estradiol	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0001666	response to hypoxia	IDA	biological process
GO:0001701	in utero embryonic development	ISS	biological process
GO:0003700	transcription factor activity, sequence-specific DNA binding	ISS	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0007417	central nervous system development	ISS	biological process
GO:0007420	brain development	IMP	biological process
GO:0017162	aryl hydrocarbon receptor binding	ISS	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05202	Transcriptional misregulation in cancer
hsa05211	Renal cell carcinoma

Diseases

Associated diseases	References
Cleft defects	GAD: 20634891
Autism	GAD: 19598235
Bipolar disorder	GAD: 18711365
Autism	GAD: 19598235
Hypospadias	MIK: 22648180
Cryptorchidism	MIK: 22648180
Male factor infertility	MIK: 22648180
Webb-Dattani syndrome	KEGG: H01797
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospadias	MIK: 22648180

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22648180	Cryptorchidism(CO), hypospadias (HS)	ARNT2 (rs2278705, rs1020397, rs5000770), CYP1A2 (rs2069521), CYP17A1 (rs4919686) and NR1I2 (rs2472680), AHR (rs3757824)	Japanes e, Ital ian	521 (334 Japanese (JPN) males (141 controls, 95 CO and 98 HS), 187 Italian (ITA) males (129 controls and 58 CO))	Male infertility	AHR AHRR ARNT ARNT2 NR1I2 RXRA RXRB RXRG CYP1A1 CYP1A2 CYP1B1 CYP2B6 CYP3A4  CYP17A1 and CYP19A1
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq