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The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Jul 2008]
NPAS2 (Neuronal PAS Domain Protein 2) is a Protein Coding gene. Diseases associated with NPAS2 include Anxiety and Delayed Sleep Phase Disorder. Among its related pathways are BMAL1-CLOCK,NPAS2 activates circadian gene expression and Metabolic States and Circadian Oscillators. 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 CLOCK.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | ISS | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0003677 | DNA binding | IEA,IPI | 9576906 |
GO:0003700 | DNA-binding transcription factor activity | IEA,TAS | 9012850 |
GO:0005515 | protein binding | IPI | 14645221 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 14645221 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IEA,IPI | 9576906 |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
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2 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
3 | Metabolism |
.40
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4 | Circadian rhythm |
.30
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5 | Metabolic States and Circadian Oscillators |
Metabolic States and Circadian Oscillators
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0007417 | central nervous system development | TAS | 9012850 |
GO:0007623 | circadian rhythm | TAS | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | · | 18c | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 20 | ^ | 21a | · | 21b |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | - | ||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NPAS2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NPAS2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NPAS2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Npas2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Npas2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | NPAS2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NPAS2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NPAS2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NPAS2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | npas2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | npas2 31 |
|
OneToOne | |
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Clk 31 32 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs113107029 | Likely Benign: not provided | 100,993,499(+) |
G/A NM_002518.4(NPAS2):c.2264G>A (p.Arg755Gln) |
MISSENSE | |
rs115806641 | Benign: not provided | 100,968,275(+) |
C/T NM_002518.4(NPAS2):c.908-6C>T |
INTRON | |
rs116479799 | Benign: not provided | 100,974,889(+) |
G/A NM_002518.4(NPAS2):c.1227G>A (p.Ser409=) |
SYNONYMOUS | |
rs116596342 | Benign: not provided | 100,974,814(+) |
A/G NM_002518.4(NPAS2):c.1152A>G (p.Ser384=) |
SYNONYMOUS | |
rs143935540 | Likely Benign: not provided | 100,993,440(+) |
G/A NM_002518.4(NPAS2):c.2205G>A (p.Ala735=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2667827 | CNV | deletion | 23128226 |
esv2720445 | CNV | deletion | 23290073 |
esv3559853 | CNV | deletion | 23714750 |
esv3591761 | CNV | loss | 21293372 |
nsv1072011 | CNV | deletion | 25765185 |
nsv1114120 | CNV | deletion | 24896259 |
nsv1136301 | CNV | deletion | 24896259 |
nsv1143948 | CNV | deletion | 24896259 |
nsv582532 | CNV | gain | 21841781 |
nsv829584 | CNV | gain | 20364138 |
nsv834315 | CNV | gain | 17160897 |
nsv834316 | CNV | gain | 17160897 |
nsv953496 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
anxiety |
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delayed sleep phase disorder |
|
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advanced sleep phase syndrome |
|
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schizoaffective disorder |
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advanced sleep phase syndrome, familial, 1 |
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