Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9915
Gene name Gene Name - the full gene name approved by the HGNC.
Aryl hydrocarbon receptor nuclear translocator 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARNT2
Synonyms (NCBI Gene) Gene synonyms aliases
WEDAS, bHLHe1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.1
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1595993043 G>A Likely-pathogenic Intron variant
rs1596021185 ->TC Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029615 hsa-miR-26b-5p Microarray 19088304
MIRT051426 hsa-let-7e-5p CLASH 23622248
MIRT799440 hsa-miR-1197 CLIP-seq
MIRT799441 hsa-miR-1207-5p CLIP-seq
MIRT799442 hsa-miR-124 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
HIF1A Unknown 12239177
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 24465693
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606036 16876 ENSG00000172379
Protein
UniProt ID Q9HBZ2
Protein name Aryl hydrocarbon receptor nuclear translocator 2 (ARNT protein 2) (Class E basic helix-loop-helix protein 1) (bHLHe1)
Protein 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). {ECO:0000269|Pub
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 64 117 Helix-loop-helix DNA-binding domain Domain
PF00989 PAS 137 244 PAS fold Domain
PF08447 PAS_3 347 435 PAS fold Domain
Sequence
MATPAAVNPPEMASDIPGSVTLPVAPMAATGQVRMAGAMPARGGKRRSGMDFDDEDGEGP
SKFSRENHSEIERRRRNKMTQYITELSDMVPTCSALARKPDKLTILRMAVSHMKSMRGTG
NKSTDGAYKPSFLTEQELKHLILEAADGFLFVVAAETGRVIYVSDSVTPVLNQPQSEWFG
STLYEQVHPDDVEKLREQLCTSENSMTGRILDLKTGTVKKEGQQSSMRMCMGSRRSFICR
MRCG
NAPLDHLPLNRITTMRKRFRNGLGPVKEGEAQYAVVHCTGYIKAWPPAGMTIPEED
ADVGQGSKYCLVAIGRLQVTSSPVCMDMNGMSVPTEFLSRHNSDGIITFVDPRCISVIGY
QPQDLLGKDILEFCHPEDQSHLRESFQQVVKLKGQVLSVMYRFRTKNREWMLIRTSSFTF
QNPYSDEIEYIICTN
TNVKQLQQQQAELEVHQRDGLSSYDLSQVPVPNLPAGVHEAGKSV
EKADAIFSQERDPRFAEMFAGISASEKKMMSSASAAGTQQIYSQGSPFPSGHSGKAFSSS
VVHVPGVNDIQSSSSTGQNMSQISRQLNQSQVAWTGSRPPFPGQQIPSQSSKTQSSPFGI
GTSHTYPADPSSYSPLSSPATSSPSGNAYSSLANRTPGFAESGQSSGQFQGRPSEVWSQW
QSQHHGQQSGEQHSHQQPGQTEVFQDMLPMPGDPTQGTGNYNIEDFADLGMFPPFSE
Sequence length 717
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Pathways in cancer
Transcriptional misregulation in cancer
Renal cell carcinoma
  PPARA activates gene expression
Phase I - Functionalization of compounds
Endogenous sterols
Xenobiotics
Aryl hydrocarbon receptor signalling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Webb-Dattani Syndrome webb-dattani syndrome rs1595993043, rs1596021185 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 24736721
Bone Diseases Associate 40679635
Breast Neoplasms Associate 21945317
Carcinoma Non Small Cell Lung Inhibit 25613063
Depression Postpartum Associate 24022475
Fetal Growth Retardation Associate 29983832
Hypopituitarism Associate 24022475
Hypospadias Associate 23285176
Hypoxia Stimulate 12239177
Invasive Pulmonary Aspergillosis Associate 31964743