ARNT2 (aryl hydrocarbon receptor nuclear translocator 2)

2008-10-01  

Identity

HGNC
ARNT2
LOCATION
15q25.1
LOCUSID
9915
ALIAS
WEDAS,bHLHe1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9915
MIM: 606036
HGNC: 16876
Ensembl: ENSG00000172379

Variants:

dbSNP: 9915
ClinVar: 9915
TCGA: ENSG00000172379
COSMIC: ARNT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172379ENST00000303329Q9HBZ2
ENSG00000172379ENST00000303329X5DQN9
ENSG00000172379ENST00000525103H0YKW1
ENSG00000172379ENST00000527771Q9HBZ2
ENSG00000172379ENST00000533983Q9HBZ2
ENSG00000172379ENST00000622346A0A087WVE9

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Renal cell carcinomaKEGGko05211
Pathways in cancerKEGGhsa05200
Renal cell carcinomaKEGGhsa05211
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976
XenobioticsREACTOMER-HSA-211981
Aryl hydrocarbon receptor signallingREACTOMER-HSA-8937144

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
207069852010Activation of the aryl hydrocarbon receptor reveals distinct requirements for IL-22 and IL-17 production by human T helper cells.59
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
246356602014Associations between oxytocin-related genes and autistic-like traits.16
240224752013ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.13
244656932014Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt function.11
219453172011siRNA-mediated knockdown of aryl hydrocarbon receptor nuclear translocator 2 affects hypoxia-inducible factor-1 regulatory signaling and metabolism in human breast cancer cells.10
215125132011Replication and extension of association between common genetic variants in SIM1 and human adiposity.9
178993662008Drug metabolism-related genes as potential biomarkers: analysis of expression in normal and tumour breast tissue.8
178267452007Separate necdin domains bind ARNT2 and HIF1alpha and repress transcription.6

Citation

Dessen P

ARNT2 (aryl hydrocarbon receptor nuclear translocator 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50423/arnt2