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

Gene ID: 4862, updated on 17-Jun-2024

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
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Genomic context

See NPAS2 in Genome Data Viewer
Location:
2q11.2
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (100818723..100996829)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (101278833..101455526)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (101436601..101613291)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375310 Neighboring gene Sharpr-MPRA regulatory region 3478 Neighboring gene uncharacterized LOC105373508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101504140-101504909 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:101518843-101520042 Neighboring gene Sharpr-MPRA regulatory region 12407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101599407-101599908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101599909-101600408 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:101601340-101601535 Neighboring gene NPAS2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101607367-101608009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101611812-101612312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16296 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:101619087-101619741 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:101621211-101621711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16297 Neighboring gene ubiquitin specific peptidase 15 pseudogene Neighboring gene uncharacterized LOC105373510 Neighboring gene TBC1 domain family member 8 Neighboring gene ribosomal protein L31

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ23138, MGC71151

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of CLOCK-BMAL transcription complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of 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

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)

NEW Try the new Transcript table

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

  1. NG_023259.1 RefSeqGene

    Range
    4989..181679
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002518.4NP_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:84149
    PAS; PAS domain
    cd00083
    Location:761
    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:250350
    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:94195
    PAS_9; PAS domain
    pfam14598
    Location:249352
    PAS_11; PAS domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    100818723..100996829
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q4ZFV9, Q53SQ3, Q86V96, Q99629, Q99743
    UniProtKB/TrEMBL
    A2I2P5, X5DR62
  2. XM_047444515.1XP_047300471.1  neuronal PAS domain-containing protein 2 isoform X8

    UniProtKB/TrEMBL
    X5DR62
  3. XM_011511242.3XP_011509544.1  neuronal PAS domain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    X5DR62
    Conserved Domains (3) summary
    cd00083
    Location:761
    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:220320
    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:219322
    PAS_11; PAS domain
  4. XM_047444510.1XP_047300466.1  neuronal PAS domain-containing protein 2 isoform X6

    UniProtKB/TrEMBL
    X5DR62
  5. XM_047444513.1XP_047300469.1  neuronal PAS domain-containing protein 2 isoform X7

    UniProtKB/TrEMBL
    X5DR62
  6. XM_047444511.1XP_047300467.1  neuronal PAS domain-containing protein 2 isoform X9

    UniProtKB/TrEMBL
    X5DR62
  7. XM_005263953.3XP_005264010.2  neuronal PAS domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q4ZFV9, Q53SQ3, Q86V96, Q99629, Q99743
    UniProtKB/TrEMBL
    A2I2P5, X5DR62
  8. XM_017004214.2XP_016859703.2  neuronal PAS domain-containing protein 2 isoform X4

    UniProtKB/TrEMBL
    X5DR62
  9. XM_005263960.3XP_005264017.2  neuronal PAS domain-containing protein 2 isoform X8

    UniProtKB/TrEMBL
    X5DR62
  10. XM_047444502.1XP_047300458.1  neuronal PAS domain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    X5DR62
  11. XM_005263959.3XP_005264016.2  neuronal PAS domain-containing protein 2 isoform X6

    UniProtKB/TrEMBL
    X5DR62
  12. XM_017004216.2XP_016859705.2  neuronal PAS domain-containing protein 2 isoform X7

    UniProtKB/TrEMBL
    X5DR62
  13. XM_017004217.2XP_016859706.2  neuronal PAS domain-containing protein 2 isoform X10

    UniProtKB/TrEMBL
    X5DR62
  14. XM_011511243.3XP_011509545.2  neuronal PAS domain-containing protein 2 isoform X12

    UniProtKB/TrEMBL
    A0PJF9
  15. XM_047444503.1XP_047300459.1  neuronal PAS domain-containing protein 2 isoform X3

    UniProtKB/TrEMBL
    X5DR62
  16. XM_047444504.1XP_047300460.1  neuronal PAS domain-containing protein 2 isoform X5

    UniProtKB/TrEMBL
    X5DR62
  17. XM_047444512.1XP_047300468.1  neuronal PAS domain-containing protein 2 isoform X10

    UniProtKB/TrEMBL
    X5DR62
  18. XM_047444505.1XP_047300461.1  neuronal PAS domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q4ZFV9, Q53SQ3, Q86V96, Q99629, Q99743
    UniProtKB/TrEMBL
    A2I2P5, X5DR62
  19. XM_005263961.5XP_005264018.1  neuronal PAS domain-containing protein 2 isoform X11

    UniProtKB/TrEMBL
    X5DR62
    Conserved Domains (2) summary
    cd00130
    Location:126226
    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:125228
    PAS_11; PAS domain

RNA

  1. XR_007075420.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    101278833..101455526
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342282.1XP_054198257.1  neuronal PAS domain-containing protein 2 isoform X6

    UniProtKB/TrEMBL
    X5DR62
  2. XM_054342286.1XP_054198261.1  neuronal PAS domain-containing protein 2 isoform X7

    UniProtKB/TrEMBL
    X5DR62
  3. XM_054342287.1XP_054198262.1  neuronal PAS domain-containing protein 2 isoform X8

    UniProtKB/TrEMBL
    X5DR62
  4. XM_054342279.1XP_054198254.1  neuronal PAS domain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    X5DR62
  5. XM_054342283.1XP_054198258.1  neuronal PAS domain-containing protein 2 isoform X9

    UniProtKB/TrEMBL
    X5DR62
  6. XM_054342273.1XP_054198248.1  neuronal PAS domain-containing protein 2 isoform X13

    UniProtKB/TrEMBL
    B7Z2H6
  7. XM_054342277.1XP_054198252.1  neuronal PAS domain-containing protein 2 isoform X15

    UniProtKB/TrEMBL
    B7Z2H6
  8. XM_054342275.1XP_054198250.1  neuronal PAS domain-containing protein 2 isoform X14

    UniProtKB/TrEMBL
    B7Z2H6
  9. XM_054342280.1XP_054198255.1  neuronal PAS domain-containing protein 2 isoform X16

    UniProtKB/TrEMBL
    B7Z2H6
  10. XM_054342289.1XP_054198264.1  neuronal PAS domain-containing protein 2 isoform X19

    UniProtKB/TrEMBL
    A0PJF9
  11. XM_054342281.1XP_054198256.1  neuronal PAS domain-containing protein 2 isoform X17

    UniProtKB/TrEMBL
    B7Z2H6
  12. XM_054342284.1XP_054198259.1  neuronal PAS domain-containing protein 2 isoform X18

    UniProtKB/TrEMBL
    B7Z2H6
  13. XM_054342274.1XP_054198249.1  neuronal PAS domain-containing protein 2 isoform X3

    UniProtKB/TrEMBL
    X5DR62
  14. XM_054342276.1XP_054198251.1  neuronal PAS domain-containing protein 2 isoform X5

    UniProtKB/TrEMBL
    X5DR62
  15. XM_054342285.1XP_054198260.1  neuronal PAS domain-containing protein 2 isoform X10

    UniProtKB/TrEMBL
    X5DR62
  16. XM_054342278.1XP_054198253.1  neuronal PAS domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q4ZFV9, Q53SQ3, Q86V96, Q99629, Q99743
    UniProtKB/TrEMBL
    A2I2P5, X5DR62
  17. XM_054342288.1XP_054198263.1  neuronal PAS domain-containing protein 2 isoform X11

    UniProtKB/TrEMBL
    X5DR62

RNA

  1. XR_008486377.1 RNA Sequence