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

Gene ID: 56938, updated on 2-Nov-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
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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