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    BMAL2 basic helix-loop-helix ARNT like 2 [ Homo sapiens (human) ]

    Gene ID: 56938, updated on 28-Oct-2024

    Summary

    Official Symbol
    BMAL2provided by HGNC
    Official Full Name
    basic helix-loop-helix ARNT like 2provided by HGNC
    Primary source
    HGNC:HGNC:18984
    See related
    Ensembl:ENSG00000029153 MIM:614517; AllianceGenome:HGNC:18984
    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; PASD9; ARNTL2; bHLHe6
    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]
    Expression
    Broad expression in esophagus (RPKM 6.4), appendix (RPKM 3.2) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BMAL2 in Genome Data Viewer
    Location:
    12p11.23
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (27332836..27425286)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (27204471..27296954)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (27485769..27578219)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902905 Neighboring gene serine/threonine kinase 38 like Neighboring gene uncharacterized LOC124902906 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4311 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27082 Neighboring gene BMAL2 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:27589181-27589746 Neighboring gene single-pass membrane protein with coiled-coil domains 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:27627037-27628236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:27631436-27631936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:27675956-27676557 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27677161-27677761 Neighboring gene arginyl-tRNA synthetase 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6146 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:27701742-27702941 Neighboring gene PPFIA binding protein 1 Neighboring gene Sharpr-MPRA regulatory region 6326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4312 Neighboring gene chromosome 12 open reading frame 71B, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC149671, MGC149672

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of CLOCK-BMAL transcription complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of aryl hydrocarbon receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

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

    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_030359.2 RefSeqGene

      Range
      4983..97433
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001248002.3NP_001234931.1  basic helix-loop-helix ARNT-like protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001234931.1

      Status: REVIEWED

      Source sequence(s)
      AC068794, AC092829
      Consensus CDS
      CCDS58219.1
      UniProtKB/TrEMBL
      H0Y5R1
      Related
      ENSP00000312247.5, ENST00000311001.9
      Conserved Domains (4) summary
      cd00130
      Location:356454
      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 ...
      pfam00010
      Location:95147
      HLH; Helix-loop-helix DNA-binding domain
      pfam00989
      Location:167273
      PAS; PAS fold
      pfam14598
      Location:356458
      PAS_11; PAS domain
    2. NM_001248003.3NP_001234932.1  basic helix-loop-helix ARNT-like protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001234932.1

      Status: REVIEWED

      Source sequence(s)
      AC068794, AC092829
      Consensus CDS
      CCDS58221.1
      UniProtKB/TrEMBL
      H0Y5R1
      Related
      ENSP00000379238.2, ENST00000395901.6
      Conserved Domains (3) summary
      cd00130
      Location:155250
      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 ...
      pfam00010
      Location:73124
      HLH; Helix-loop-helix DNA-binding domain
      cl25986
      Location:333435
      PAS_3; PAS fold
    3. NM_001248004.3NP_001234933.1  basic helix-loop-helix ARNT-like protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001234933.1

      Status: REVIEWED

      Source sequence(s)
      AC068794, AC092829
      Consensus CDS
      CCDS58220.1
      UniProtKB/TrEMBL
      H0Y5R1
      Related
      ENSP00000261178.5, ENST00000261178.9
      Conserved Domains (3) summary
      cd00130
      Location:144239
      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 ...
      pfam00010
      Location:62113
      HLH; Helix-loop-helix DNA-binding domain
      cl25986
      Location:322424
      PAS_3; PAS fold
    4. NM_001248005.3NP_001234934.1  basic helix-loop-helix ARNT-like protein 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC068794, AC092829
      Consensus CDS
      CCDS58222.1
      UniProtKB/TrEMBL
      H0Y5R1
      Related
      ENSP00000438545.1, ENST00000546179.5
      Conserved Domains (4) summary
      cd00083
      Location:72124
      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
      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
      PAS; PAS fold
      pfam14598
      Location:333435
      PAS_11; PAS domain
    5. NM_001394524.1NP_001381453.1  basic helix-loop-helix ARNT-like protein 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC068794, AC092829
      UniProtKB/TrEMBL
      H0Y5R1
      Conserved Domains (3) summary
      cd00130
      Location:203298
      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 ...
      cd11469
      Location:119178
      bHLH-PAS_ARNTL2_PASD9; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 2 (ARNTL2) and similar proteins
      pfam14598
      Location:381483
      PAS_11; PAS domain
    6. NM_001394525.1NP_001381454.1  basic helix-loop-helix ARNT-like protein 2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC068794, AC092829
      UniProtKB/TrEMBL
      H0Y5R1
      Conserved Domains (3) summary
      cd00130
      Location:189284
      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 ...
      cd11469
      Location:106164
      bHLH-PAS_ARNTL2_PASD9; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 2 (ARNTL2) and similar proteins
      pfam14598
      Location:367469
      PAS_11; PAS domain
    7. NM_001394526.1NP_001381455.1  basic helix-loop-helix ARNT-like protein 2 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC068794, AC092829
      Consensus CDS
      CCDS91666.1
      UniProtKB/TrEMBL
      H0Y5R1
      Related
      ENSP00000442438.1, ENST00000544915.5
      Conserved Domains (3) summary
      cd00130
      Location:158253
      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 ...
      cd11469
      Location:74133
      bHLH-PAS_ARNTL2_PASD9; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 2 (ARNTL2) and similar proteins
      pfam14598
      Location:336438
      PAS_11; PAS domain
    8. NM_001394527.1NP_001381456.1  basic helix-loop-helix ARNT-like protein 2 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC068794, AC092829
      UniProtKB/TrEMBL
      H0Y5R1
      Conserved Domains (2) summary
      cd00130
      Location:322420
      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 ...
      cd11469
      Location:61119
      bHLH-PAS_ARNTL2_PASD9; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 2 (ARNTL2) and similar proteins
    9. NM_001394528.1NP_001381457.1  basic helix-loop-helix ARNT-like protein 2 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC068794, AC092829
      UniProtKB/TrEMBL
      H0Y5R1
      Conserved Domains (2) summary
      cd11469
      Location:72130
      bHLH-PAS_ARNTL2_PASD9; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 2 (ARNTL2) and similar proteins
      pfam14598
      Location:302404
      PAS_11; PAS domain
    10. NM_001394529.1NP_001381458.1  basic helix-loop-helix ARNT-like protein 2 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC068794, AC092829
      UniProtKB/TrEMBL
      H0Y5R1
      Conserved Domains (2) summary
      cd00130
      Location:291389
      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 ...
      cd11469
      Location:61119
      bHLH-PAS_ARNTL2_PASD9; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor nuclear translocator-like protein 2 (ARNTL2) and similar proteins
    11. NM_020183.6NP_064568.3  basic helix-loop-helix ARNT-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_064568.3

      Status: REVIEWED

      Source sequence(s)
      AC068794, AC092829
      Consensus CDS
      CCDS8712.1
      UniProtKB/Swiss-Prot
      B7Z429, F5H402, Q8WYA1, Q8WYA2, Q8WYA3, Q8WYA4, Q96J63, Q9H2M4, Q9NS70, Q9NYQ4, Q9NYQ5
      UniProtKB/TrEMBL
      H0Y5R1
      Related
      ENSP00000266503.5, ENST00000266503.10
      Conserved Domains (4) summary
      cd00130
      Location:370468
      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 ...
      pfam00010
      Location:109161
      HLH; Helix-loop-helix DNA-binding domain
      pfam00989
      Location:181287
      PAS; PAS fold
      pfam14598
      Location:370472
      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

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      27332836..27425286
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520768.3XP_011519070.1  basic helix-loop-helix ARNT-like protein 2 isoform X1

      UniProtKB/TrEMBL
      H0Y5R1
      Conserved Domains (3) summary
      cd00130
      Location:350448
      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 ...
      pfam00010
      Location:120172
      HLH; Helix-loop-helix DNA-binding domain
      pfam14598
      Location:350452
      PAS_11; PAS domain
    2. XM_011520769.3XP_011519071.1  basic helix-loop-helix ARNT-like protein 2 isoform X2

      UniProtKB/TrEMBL
      H0Y5R1
      Conserved Domains (4) summary
      cd00130
      Location:347445
      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 ...
      pfam00010
      Location:86138
      HLH; Helix-loop-helix DNA-binding domain
      pfam00989
      Location:158264
      PAS; PAS fold
      pfam14598
      Location:347449
      PAS_11; PAS domain
    3. XM_047429173.1XP_047285129.1  basic helix-loop-helix ARNT-like protein 2 isoform X5

    4. XM_047429171.1XP_047285127.1  basic helix-loop-helix ARNT-like protein 2 isoform X3

    5. XM_047429172.1XP_047285128.1  basic helix-loop-helix ARNT-like protein 2 isoform X4

    6. XM_017019668.1XP_016875157.1  basic helix-loop-helix ARNT-like protein 2 isoform X6

      UniProtKB/TrEMBL
      H0Y5R1
      Conserved Domains (4) summary
      cd00083
      Location:659
      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:268366
      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:79185
      PAS; PAS fold
      pfam14598
      Location:268370
      PAS_11; PAS domain
    7. XM_047429174.1XP_047285130.1  basic helix-loop-helix ARNT-like protein 2 isoform X9

    8. XM_006719114.3XP_006719177.1  basic helix-loop-helix ARNT-like protein 2 isoform X8

      UniProtKB/TrEMBL
      H0Y5R1
      Conserved Domains (4) summary
      smart00353
      Location:139
      HLH; helix loop helix domain
      cd00130
      Location:248346
      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:59165
      PAS; PAS fold
      pfam14598
      Location:248350
      PAS_11; PAS domain
    9. XM_017019669.1XP_016875158.1  basic helix-loop-helix ARNT-like protein 2 isoform X7

      UniProtKB/TrEMBL
      H0Y5R1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      27204471..27296954
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372594.1XP_054228569.1  basic helix-loop-helix ARNT-like protein 2 isoform X1

    2. XM_054372595.1XP_054228570.1  basic helix-loop-helix ARNT-like protein 2 isoform X2

    3. XM_054372598.1XP_054228573.1  basic helix-loop-helix ARNT-like protein 2 isoform X5

    4. XM_054372596.1XP_054228571.1  basic helix-loop-helix ARNT-like protein 2 isoform X3

    5. XM_054372597.1XP_054228572.1  basic helix-loop-helix ARNT-like protein 2 isoform X4

    6. XM_054372599.1XP_054228574.1  basic helix-loop-helix ARNT-like protein 2 isoform X6

    7. XM_054372602.1XP_054228577.1  basic helix-loop-helix ARNT-like protein 2 isoform X9

    8. XM_054372601.1XP_054228576.1  basic helix-loop-helix ARNT-like protein 2 isoform X8

    9. XM_054372600.1XP_054228575.1  basic helix-loop-helix ARNT-like protein 2 isoform X7