Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
ARNTL2 (Aryl Hydrocarbon Receptor Nuclear Translocator Like 2) is a Protein Coding gene. Diseases associated with ARNTL2 include Hepatorenal Syndrome and Hepatic Encephalopathy. Among its related pathways are Circadian rythm related genes and BMAL1-CLOCK,NPAS2 activates circadian gene expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein dimerization activity. An important paralog of this gene is ARNTL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 15147242 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IDA,ISM | 19274049 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IDA,NAS | 11018023 |
GO:0046983 | protein dimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IDA,NAS | 11018023 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005667 | transcription factor complex | IEA | -- |
GO:0005730 | nucleolus | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
.68
|
|
2 | Circadian rythm related genes |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | NAS | 11018023 |
GO:0006357 | regulation of transcription by RNA polymerase II | IDA | 12055078 |
GO:0007623 | circadian rhythm | IDA | 10864977 |
GO:0009649 | entrainment of circadian clock | NAS | 11018023 |
GO:0042753 | positive regulation of circadian rhythm | ISS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ARNTL2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ARNTL2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ARNTL2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Arntl2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arntl2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ARNTL2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | ARNTL2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ARNTL2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100124875 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | arntl2 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | cyc 31 32 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
789045 | Benign: not provided | 27,390,208(+) | G/C | MISSENSE_VARIANT | |
rs1037921 | - | p.Asn340Ser | |||
rs11049005 | - | p.Ala574Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1406n100 | CNV | gain | 25217958 |
dgv2417n54 | CNV | gain | 21841781 |
dgv271e199 | CNV | deletion | 23128226 |
esv2745664 | CNV | deletion | 23290073 |
esv3305936 | CNV | mobile element insertion | 20981092 |
esv3308480 | CNV | mobile element insertion | 20981092 |
esv3393668 | CNV | insertion | 20981092 |
esv3417828 | CNV | insertion | 20981092 |
esv3628933 | CNV | gain | 21293372 |
nsv436825 | CNV | insertion | 17901297 |
nsv469175 | CNV | loss | 19166990 |
nsv521872 | CNV | gain | 19592680 |
nsv557808 | CNV | loss | 21841781 |
nsv650 | CNV | insertion | 18451855 |
nsv832357 | CNV | gain | 17160897 |
nsv973984 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hepatorenal syndrome |
|
|
hepatic encephalopathy |
|
|
advanced sleep phase syndrome |
|
|