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

    Gene ID: 4862, updated on 3-Apr-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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
    2. XM_047444515.1XP_047300471.1  neuronal PAS domain-containing protein 2 isoform X8

    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

    5. XM_047444513.1XP_047300469.1  neuronal PAS domain-containing protein 2 isoform X7

    6. XM_047444511.1XP_047300467.1  neuronal PAS domain-containing protein 2 isoform X9

    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
    8. XM_017004214.2XP_016859703.2  neuronal PAS domain-containing protein 2 isoform X4

    9. XM_005263960.3XP_005264017.2  neuronal PAS domain-containing protein 2 isoform X8

    10. XM_047444502.1XP_047300458.1  neuronal PAS domain-containing protein 2 isoform X2

    11. XM_005263959.3XP_005264016.2  neuronal PAS domain-containing protein 2 isoform X6

    12. XM_017004216.2XP_016859705.2  neuronal PAS domain-containing protein 2 isoform X7

    13. XM_017004217.2XP_016859706.2  neuronal PAS domain-containing protein 2 isoform X10

    14. XM_011511243.3XP_011509545.2  neuronal PAS domain-containing protein 2 isoform X12

    15. XM_047444503.1XP_047300459.1  neuronal PAS domain-containing protein 2 isoform X3

    16. XM_047444504.1XP_047300460.1  neuronal PAS domain-containing protein 2 isoform X5

    17. XM_047444512.1XP_047300468.1  neuronal PAS domain-containing protein 2 isoform X10

    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
    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

    2. XM_054342286.1XP_054198261.1  neuronal PAS domain-containing protein 2 isoform X7

    3. XM_054342287.1XP_054198262.1  neuronal PAS domain-containing protein 2 isoform X8

    4. XM_054342279.1XP_054198254.1  neuronal PAS domain-containing protein 2 isoform X2

    5. XM_054342283.1XP_054198258.1  neuronal PAS domain-containing protein 2 isoform X9

    6. XM_054342273.1XP_054198248.1  neuronal PAS domain-containing protein 2 isoform X13

    7. XM_054342277.1XP_054198252.1  neuronal PAS domain-containing protein 2 isoform X15

    8. XM_054342275.1XP_054198250.1  neuronal PAS domain-containing protein 2 isoform X14

    9. XM_054342280.1XP_054198255.1  neuronal PAS domain-containing protein 2 isoform X16

    10. XM_054342289.1XP_054198264.1  neuronal PAS domain-containing protein 2 isoform X19

    11. XM_054342281.1XP_054198256.1  neuronal PAS domain-containing protein 2 isoform X17

    12. XM_054342284.1XP_054198259.1  neuronal PAS domain-containing protein 2 isoform X18

    13. XM_054342274.1XP_054198249.1  neuronal PAS domain-containing protein 2 isoform X3

    14. XM_054342276.1XP_054198251.1  neuronal PAS domain-containing protein 2 isoform X5

    15. XM_054342285.1XP_054198260.1  neuronal PAS domain-containing protein 2 isoform X10

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

    RNA

    1. XR_008486377.1 RNA Sequence