NPAS2 neuronal PAS domain protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NPAS2provided by HGNC
Official Full Name: neuronal PAS domain protein 2provided by HGNC
Primary source: HGNC:HGNC:7895
See related: Ensembl:ENSG00000170485 MIM:603347; AllianceGenome:HGNC:7895
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MOP4; PASD4; bHLHe9
Summary: 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]
Expression: Ubiquitous expression in esophagus (RPKM 4.7), urinary bladder (RPKM 4.5) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q11.2

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (100818723..100996829)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (101278833..101455526)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (101436601..101613291)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between glucose metabolism, the circadian cycle and hypoxia: Evaluation of the NPAS2 and Rev-Erb-alpha protein serum levels in obstructive sleep apnea patients - a pilot study.
Title: Association between glucose metabolism, the circadian cycle and hypoxia: Evaluation of the NPAS2 and Rev-Erb-α protein serum levels in obstructive sleep apnea patients - a pilot study.
High expression of the circadian clock gene NPAS2 is associated with progression and poor prognosis of gastric cancer: A single-center study.
Title: High expression of the circadian clock gene NPAS2 is associated with progression and poor prognosis of gastric cancer: A single-center study.
Characterization of molecular subtypes based on chromatin regulators and identification of the role of NPAS2 in lung adenocarcinoma.
Title: Characterization of molecular subtypes based on chromatin regulators and identification of the role of NPAS2 in lung adenocarcinoma.
NPAS2 promotes aerobic glycolysis and tumor growth in prostate cancer through HIF-1A signaling.
Title: NPAS2 promotes aerobic glycolysis and tumor growth in prostate cancer through HIF-1A signaling.
Integrative Molecular Analyses of an Individual Transcription Factor-Based Genomic Model for Lung Cancer Prognosis.
Title: Integrative Molecular Analyses of an Individual Transcription Factor-Based Genomic Model for Lung Cancer Prognosis.
Roles of NPAS2 in circadian rhythm and disease.
Title: Roles of NPAS2 in circadian rhythm and disease.
Genetic variants in NPAS2 gene and clinical outcomes of resectable non-small-cell lung cancer.
Title: Genetic variants in NPAS2 gene and clinical outcomes of resectable non-small-cell lung cancer.
Circadian genes polymorphisms, night work and prostate cancer risk: Findings from the EPICAP study.
Title: Circadian genes polymorphisms, night work and prostate cancer risk: Findings from the EPICAP study.
Our findings demonstrate that NPAS2 plays a critical role in glucose metabolism reprogramming, suggesting that NPAS2 may serve as a potential therapeutic target in HCC.
Title: Circadian clock gene NPAS2 promotes reprogramming of glucose metabolism in hepatocellular carcinoma cells.
Study reported an association between the risk of prostate cancer and the circadian pathway where significant associations were found for the genes NPAS2 and PER1.
Title: Circadian genes and risk of prostate cancer: Findings from the EPICAP study.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79879 (e-PCR)
- UniSTS:85760

SHGC-33168 (e-PCR)
- UniSTS:6424

D10S275 (e-PCR)
- UniSTS:147992

SHGC-85091 (e-PCR)
- UniSTS:103471

D8S2279 (e-PCR)
- UniSTS:473907

WI-17613 (e-PCR)
- UniSTS:32310

SHGC-78601 (e-PCR)
- UniSTS:101706

SHGC-34190 (e-PCR)
- UniSTS:5223

RH71260 (e-PCR)
- UniSTS:42346

SHGC-58283 (e-PCR)
- UniSTS:34702

RH17865 (e-PCR)
- UniSTS:68248

RH16198 (e-PCR)
- UniSTS:71326

PMC19579P4 (e-PCR)
- UniSTS:271786

RH77872 (e-PCR)
- UniSTS:69042

RH45156 (e-PCR)
- UniSTS:29379

SHGC-36364 (e-PCR)
- UniSTS:20938

SHGC-132981 (e-PCR)
- UniSTS:170963

SGC34754 (e-PCR)
- UniSTS:5596

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables Hsp90 protein binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in circadian regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of behavioral fear response	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to redox state	IDA Inferred from Direct Assay more info	PubMed
involved_in response to xenobiotic stimulus	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of CLOCK-BMAL transcription complex	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neuronal PAS domain-containing protein 2

Names: PAS domain-containing protein 4; basic-helix-loop-helix-PAS protein MOP4; class E basic helix-loop-helix protein 9; member of PAS protein 4; member of PAS superfamily 4; neuronal PAS2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023259.1 RefSeqGene

Range

4989..181679

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002518.4 → NP_002509.2 neuronal PAS domain-containing protein 2

See identical proteins and their annotated locations for NP_002509.2

Status: REVIEWED

Source sequence(s)

AC016738, AC092168, AK095806, AK128586, BC072383, BM724652, U77970

Consensus CDS

CCDS2048.1

UniProtKB/Swiss-Prot

Q4ZFV9, Q53SQ3, Q86V96, Q99629, Q99743

UniProtKB/TrEMBL

A2I2P5, X5DR62

Related

ENSP00000338283.5, ENST00000335681.10

Conserved Domains (5) summary

smart00091
Location:84 → 149

PAS; PAS domain

cd00083
Location:7 → 61

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cd00130
Location:250 → 350

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam13426
Location:94 → 195

PAS_9; PAS domain

pfam14598
Location:249 → 352

PAS_11; PAS domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

100818723..100996829

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047444506.1 → XP_047300462.1 neuronal PAS domain-containing protein 2 isoform X1

UniProtKB/Swiss-Prot

Q4ZFV9, Q53SQ3, Q86V96, Q99629, Q99743

UniProtKB/TrEMBL

A2I2P5
XM_047444515.1 → XP_047300471.1 neuronal PAS domain-containing protein 2 isoform X8
XM_011511242.3 → XP_011509544.1 neuronal PAS domain-containing protein 2 isoform X2

UniProtKB/TrEMBL

X5DR62

Conserved Domains (3) summary

cd00083
Location:7 → 61

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cd00130
Location:220 → 320

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam14598
Location:219 → 322

PAS_11; PAS domain
XM_047444510.1 → XP_047300466.1 neuronal PAS domain-containing protein 2 isoform X6
XM_047444513.1 → XP_047300469.1 neuronal PAS domain-containing protein 2 isoform X7
XM_047444511.1 → XP_047300467.1 neuronal PAS domain-containing protein 2 isoform X9
XM_005263953.3 → XP_005264010.2 neuronal PAS domain-containing protein 2 isoform X1

UniProtKB/Swiss-Prot

Q4ZFV9, Q53SQ3, Q86V96, Q99629, Q99743

UniProtKB/TrEMBL

A2I2P5
XM_017004214.2 → XP_016859703.2 neuronal PAS domain-containing protein 2 isoform X4
XM_005263960.3 → XP_005264017.2 neuronal PAS domain-containing protein 2 isoform X8
XM_047444502.1 → XP_047300458.1 neuronal PAS domain-containing protein 2 isoform X2
XM_005263959.3 → XP_005264016.2 neuronal PAS domain-containing protein 2 isoform X6
XM_017004216.2 → XP_016859705.2 neuronal PAS domain-containing protein 2 isoform X7
XM_017004217.2 → XP_016859706.2 neuronal PAS domain-containing protein 2 isoform X10
XM_011511243.3 → XP_011509545.2 neuronal PAS domain-containing protein 2 isoform X12
XM_047444503.1 → XP_047300459.1 neuronal PAS domain-containing protein 2 isoform X3
XM_047444504.1 → XP_047300460.1 neuronal PAS domain-containing protein 2 isoform X5
XM_047444512.1 → XP_047300468.1 neuronal PAS domain-containing protein 2 isoform X10
XM_047444505.1 → XP_047300461.1 neuronal PAS domain-containing protein 2 isoform X1

UniProtKB/Swiss-Prot

Q4ZFV9, Q53SQ3, Q86V96, Q99629, Q99743

UniProtKB/TrEMBL

A2I2P5
XM_005263961.5 → XP_005264018.1 neuronal PAS domain-containing protein 2 isoform X11

UniProtKB/TrEMBL

X5DR62

Conserved Domains (2) summary

cd00130
Location:126 → 226

PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...

pfam14598
Location:125 → 228

PAS_11; PAS domain

RNA

XR_007075420.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

101278833..101455526

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054342282.1 → XP_054198257.1 neuronal PAS domain-containing protein 2 isoform X6
XM_054342286.1 → XP_054198261.1 neuronal PAS domain-containing protein 2 isoform X7
XM_054342287.1 → XP_054198262.1 neuronal PAS domain-containing protein 2 isoform X8
XM_054342279.1 → XP_054198254.1 neuronal PAS domain-containing protein 2 isoform X2
XM_054342283.1 → XP_054198258.1 neuronal PAS domain-containing protein 2 isoform X9
XM_054342273.1 → XP_054198248.1 neuronal PAS domain-containing protein 2 isoform X13
XM_054342277.1 → XP_054198252.1 neuronal PAS domain-containing protein 2 isoform X15
XM_054342275.1 → XP_054198250.1 neuronal PAS domain-containing protein 2 isoform X14
XM_054342280.1 → XP_054198255.1 neuronal PAS domain-containing protein 2 isoform X16
XM_054342289.1 → XP_054198264.1 neuronal PAS domain-containing protein 2 isoform X19
XM_054342281.1 → XP_054198256.1 neuronal PAS domain-containing protein 2 isoform X17
XM_054342284.1 → XP_054198259.1 neuronal PAS domain-containing protein 2 isoform X18
XM_054342274.1 → XP_054198249.1 neuronal PAS domain-containing protein 2 isoform X3
XM_054342276.1 → XP_054198251.1 neuronal PAS domain-containing protein 2 isoform X5
XM_054342285.1 → XP_054198260.1 neuronal PAS domain-containing protein 2 isoform X10
XM_054342278.1 → XP_054198253.1 neuronal PAS domain-containing protein 2 isoform X1

UniProtKB/Swiss-Prot

Q4ZFV9, Q53SQ3, Q86V96, Q99629, Q99743

UniProtKB/TrEMBL

A2I2P5
XM_054342288.1 → XP_054198263.1 neuronal PAS domain-containing protein 2 isoform X11