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    ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 [ Homo sapiens ]

    Gene ID: 56938, updated on 11-May-2012

    Summary

    Official Symbol
    ARNTL2provided by HGNC
    Official Full Name
    aryl hydrocarbon receptor nuclear translocator-like 2provided by HGNC
    Primary source
    HGNC:18984
    See related
    Ensembl:ENSG00000029153; HPRD:16507; MIM:614517; Vega:OTTHUMG00000169257
    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
    CLIF; MOP9; BMAL2; PASD9; bHLHe6; MGC149671; MGC149672
    Summary
    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]

    Genomic context

    Location :
    12p12.2-p11.2
    Sequence :
    Chromosome: 12; NC_000012.11 (27485988..27573466)
    See ARNTL2 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene liprin-beta-1-like Neighboring gene serine/threonine kinase 38 like Neighboring gene arginyl-tRNA synthetase pseudogene Neighboring gene chromosome 12 open reading frame 70 Neighboring gene PTPRF interacting protein, binding protein 1 (liprin beta 1) Neighboring gene uncharacterized protein C12orf71-like

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q8WYA1 O15516 CLOCK    HPRD  PubMed  
    Q8WYA1 Q99814 EPAS1    HPRD  PubMed  
    BioGRID:121263 BioGRID:114944 CLOCK    BioGRID  PubMed Two-hybrid 
    BioGRID:121263 BioGRID:113164 UBC    BioGRID  PubMed Reconstituted Complex 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • BMAL1:CLOCK/NPAS2 Activates Circadian Expression, organism-specific biosystem (from REACTOME)
      BMAL1:CLOCK/NPAS2 Activates Circadian Expression, organism-specific biosystemAs inferred from mouse, BMAL1:CLOCK and BMAL1:NPAS2 heterodimers bind to sequence elements (E boxes) in the promoters of target genes and enhance transcription (Gekakis et al. 1998, reviewed in Munoz...
    • Circadian Clock, organism-specific biosystem (from REACTOME)
      Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 heterodimer transactivates CRY and PER genes by binding E-box element...

    General protein information

    Preferred Names
    aryl hydrocarbon receptor nuclear translocator-like protein 2
    Names
    aryl hydrocarbon receptor nuclear translocator-like protein 2
    CYCLE-like factor
    member of PAS protein 9
    transcription factor BMAL2
    brain and muscle ARNT-like 2
    PAS domain-containing protein 9
    basic-helix-loop-helix-PAS protein MOP9
    class E basic helix-loop-helix protein 6

    NCBI Reference Sequences (RefSeq)

    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_030359.1 RefSeqGene

      Range
      5001..97960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001248002.1NP_001234931.1  aryl hydrocarbon receptor nuclear translocator-like protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC068794, AC092829, AF246961, AF256215, BQ774827, CV388040
      UniProtKB/Swiss-Prot
      Q8WYA1
      Conserved Domains (4) summary
      cd00083
      Location:95147
      Blast Score: 150
      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:356454
      Blast Score: 174
      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 ...
      pfam00989
      Location:167273
      Blast Score: 115
      PAS; PAS fold
      pfam08447
      Location:367451
      Blast Score: 129
      PAS_3; PAS fold
    2. NM_001248003.1NP_001234932.1  aryl hydrocarbon receptor nuclear translocator-like protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame donor splice site, and lacks two consecutive in-frame coding exons compared to variant 1. This results in a shorter isoform (3) compared to isoform 1.
      Source sequence(s)
      AC068794, AC092829, AF246962, AF256215, BQ774827, CV388040
      UniProtKB/Swiss-Prot
      Q8WYA1
      Conserved Domains (4) summary
      cd00083
      Location:72124
      Blast Score: 146
      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:333431
      Blast Score: 174
      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 ...
      pfam00989
      Location:144250
      Blast Score: 115
      PAS; PAS fold
      pfam08447
      Location:344428
      Blast Score: 128
      PAS_3; PAS fold
    3. NM_001248004.1NP_001234933.1  aryl hydrocarbon receptor nuclear translocator-like protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two consecutive in-frame coding exons compared to variant 1. This results in a shorter isoform (4) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC068794, AC092829, AF246963, AF256215, BQ774827, CV388040
      UniProtKB/Swiss-Prot
      Q8WYA1
      Conserved Domains (4) summary
      cd00083
      Location:61113
      Blast Score: 147
      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:322420
      Blast Score: 174
      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 ...
      pfam00989
      Location:133239
      Blast Score: 115
      PAS; PAS fold
      pfam08447
      Location:333417
      Blast Score: 128
      PAS_3; PAS fold
    4. NM_001248005.1NP_001234934.1  aryl hydrocarbon receptor nuclear translocator-like protein 2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame donor splice site, lacks two consecutive in-frame coding exons, and another exon in the 3' region that causes a frame-shift, compared to variant 1. This results in a shorter isoform (3) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC068794, AC092829, AF246960, AF256215, AK296706, BQ774827, CV388040
      UniProtKB/TrEMBL
      B7Z429
      UniProtKB/TrEMBL
      F5H402
      UniProtKB/Swiss-Prot
      Q8WYA1
      Conserved Domains (4) summary
      cd00083
      Location:72124
      Blast Score: 144
      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:333431
      Blast Score: 173
      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 ...
      pfam00989
      Location:144250
      Blast Score: 115
      PAS; PAS fold
      pfam08447
      Location:344428
      Blast Score: 127
      PAS_3; PAS fold
    5. NM_020183.4NP_064568.3  aryl hydrocarbon receptor nuclear translocator-like protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC068794, AC092829, AF246960, AF256215, BQ774827, CV388040
      Consensus CDS
      CCDS8712.1
      UniProtKB/Swiss-Prot
      Q8WYA1
      Related
      ENSP00000266503, OTTHUMP00000240589, ENST00000266503, OTTHUMT00000403162
      Conserved Domains (4) summary
      cd00083
      Location:109161
      Blast Score: 150
      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:370468
      Blast Score: 174
      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 ...
      pfam00989
      Location:181287
      Blast Score: 115
      PAS; PAS fold
      pfam08447
      Location:381465
      Blast Score: 128
      PAS_3; PAS fold

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      27485988..27573466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      27255121..27342576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC068794.25 (2062..20598) None
    genomic AC092829.4 None
    genomic CH471094.1 EAW96552.1
      EAW96553.1
      EAW96554.1
    genomic GM828357.1 CAV28553.1
    mRNA AB039921.1 BAB01485.1
    mRNA AF231338.1 AAF71306.1
    mRNA AF231339.1 AAF71307.1
    mRNA AF246960.1 AAL50339.1
    mRNA AF246961.1 AAL50340.1
    mRNA AF246962.1 AAL50341.1
    mRNA AF246963.1 AAL50342.1
    mRNA AF256215.1 AAG34652.1
    mRNA AK296706.1 BAH12415.1
    mRNA BC000172.3 AAH00172.3
    mRNA BC043511.1 None
    mRNA BC125061.1 AAI25062.1
    mRNA BC125062.1 AAI25063.1
    mRNA BQ774827.1 None
    mRNA CV388040.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WYA1.2 GenPept UniProtKB/Swiss-Prot:Q8WYA1

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