Gene Gene information from NCBI Gene database.
Entrez ID 9915
Gene name Aryl hydrocarbon receptor nuclear translocator 2
Gene symbol ARNT2
Synonyms (NCBI Gene)
WEDASbHLHe1
Chromosome 15
Chromosome location 15q25.1
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
SNPs SNP information provided by dbSNP.
2
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.
380
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HIF1A Unknown 12239177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606036 16876 ENSG00000172379
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Webb-Dattani syndrome Likely pathogenic; Pathogenic rs1595993043, rs1596021185 RCV000986173
RCV000993667
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARNT2-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorder Autism Pubtator 24736721 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 24736721
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 40679635 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21945317
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21945317 Associate
★☆☆☆☆
Found in Text Mining only
Congenital hypoplasia of penis Congenital Hypoplasia Of Penis HPO_DG
★☆☆☆☆
Found in Text Mining only
Cryptorchidism Cryptorchidism BEFREE 22648180
★☆☆☆☆
Found in Text Mining only