Q8WYA1 (BMAL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 100.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Aryl hydrocarbon receptor nuclear translocator-like protein 2 Alternative name(s): Basic-helix-loop-helix-PAS protein MOP9 Brain and muscle ARNT-like 2 CYCLE-like factor Short name=CLIF Class E basic helix-loop-helix protein 6 Short name=bHLHe6 Member of PAS protein 9 PAS domain-containing protein 9 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 636 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | ARNTL2-CLOCK heterodimers activate E-box element (5'-CACGTG-5') transcription. Also, in umbilical vein endothelial cells, activates SERPINE1 through E-box sites. This transactivation is inhibited by PER2 and CRY1. Ref.2 |
| Subunit structure | Component of the circadian core oscillator, which includes the CRY proteins, CLOCK, or NPAS2, ARNTL or ARNTL2, CSNK1D and/or CSNK1E, TIMELESS and the PER proteins. Interacts directly with CLOCK to form the ARNTL2-CLOCK transactivator. Can form heterodimers or homodimers which interact directly with CLOCK to form the transcription activator. Also interacts with NPAS2 and HIF1A. Ref.2 Ref.3 |
| Subcellular location | |
| Tissue specificity | Expressed in fetal brain. Highly expressed in brain and placenta. Lower levels in heart, liver, thymus, kidney and lung. Located to endothelial cells and neuronal cells of the suprachiasmatic nucleus (SCN). Also detected in endothelial cells of the heart, lung and kidney. In the brain, specifically expressed in the thalamus, hippocampus and amygdala. Ref.1 Ref.2 Ref.3 |
| Induction | Constitutively expressed. Has no circadian rhythm expression pattern. Ref.2 |
| Sequence similarities | Contains 1 bHLH (basic helix-loop-helix) domain. Contains 1 PAC (PAS-associated C-terminal) domain. Contains 2 PAS (PER-ARNT-SIM) domains. |
Ontologies
Alternative products
| This entry describes 9 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8WYA1-1) Also known as: BMAL2a; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8WYA1-2) Also known as: BMAL2b; The sequence of this isoform differs from the canonical sequence as follows: 96-109: Missing. | ||||||
| Isoform 3 (identifier: Q8WYA1-3) Also known as: BMAL2c; The sequence of this isoform differs from the canonical sequence as follows: 11-11: G → GEVAGGEATAPG 62-95: Missing. 96-109: Missing. | ||||||
| Isoform 4 (identifier: Q8WYA1-4) Also known as: BMAL2d; The sequence of this isoform differs from the canonical sequence as follows: 62-95: Missing. 96-109: Missing. | ||||||
| Isoform 5 (identifier: Q8WYA1-5) Also known as: CLIF; The sequence of this isoform differs from the canonical sequence as follows: 62-95: Missing. | ||||||
| Isoform 6 (identifier: Q8WYA1-6) The sequence of this isoform differs from the canonical sequence as follows: 1-37: Missing. 62-95: Missing. 96-109: Missing. | ||||||
| Isoform 7 (identifier: Q8WYA1-7) Also known as: MOP9 long form; The sequence of this isoform differs from the canonical sequence as follows: 1-37: Missing. 96-109: Missing. | ||||||
| Isoform 8 (identifier: Q8WYA1-8) Also known as: MOP9 short form; The sequence of this isoform differs from the canonical sequence as follows: 1-37: Missing. 61-61: Q → H 62-74: Missing. 96-109: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 9 (identifier: Q8WYA1-9) The sequence of this isoform differs from the canonical sequence as follows: 11-11: G → GEVAGGEATAPG 62-95: Missing. 96-109: Missing. 556-635: MSNKELFPPS...PGDFSDIQWT → VMVHSWISMPYVTMMTQPWLH | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 636 | 636 | Aryl hydrocarbon receptor nuclear translocator-like protein 2 | PRO_0000273631 | ||||||||||||||||||||||||||||||
Regions | ||||||||||||||||||||||||||||||||||
| Domain | 107 – 160 | 54 | bHLH | |||||||||||||||||||||||||||||||
| Domain | 178 – 250 | 73 | PAS 1 | |||||||||||||||||||||||||||||||
| Domain | 357 – 427 | 71 | PAS 2 | |||||||||||||||||||||||||||||||
| Domain | 432 – 475 | 44 | PAC | |||||||||||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||||||||||
| Alternative sequence | 1 – 37 | 37 | Missing in isoform 6, isoform 7 and isoform 8. | VSP_022580 | ||||||||||||||||||||||||||||||
| Alternative sequence | 11 | 1 | G → GEVAGGEATAPG in isoform 3 and isoform 9. | VSP_022585 | ||||||||||||||||||||||||||||||
| Alternative sequence | 61 | 1 | Q → H in isoform 8. | VSP_022582 | ||||||||||||||||||||||||||||||
| Alternative sequence | 62 – 95 | 34 | Missing in isoform 3, isoform 4, isoform 5, isoform 6 and isoform 9. | VSP_022581 | ||||||||||||||||||||||||||||||
| Alternative sequence | 62 – 74 | 13 | Missing in isoform 8. | VSP_022583 | ||||||||||||||||||||||||||||||
| Alternative sequence | 96 – 109 | 14 | Missing in isoform 2, isoform 3, isoform 4, isoform 6, isoform 7, isoform 8 and isoform 9. | VSP_022584 | ||||||||||||||||||||||||||||||
| Alternative sequence | 556 – 635 | 80 | MSNKE…DIQWT → VMVHSWISMPYVTMMTQPWL H in isoform 9. | VSP_044773 | ||||||||||||||||||||||||||||||
| Natural variant | 340 | 1 | N → S. Corresponds to variant rs1037921 [ dbSNP | Ensembl ]. | VAR_030158 | ||||||||||||||||||||||||||||||
| Natural variant | 574 | 1 | A → V. Corresponds to variant rs11049005 [ dbSNP | Ensembl ]. | VAR_030159 | ||||||||||||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||||||||||||
| Sequence conflict | 41 | 1 | F → S Ref.1 | |||||||||||||||||||||||||||||||
| Sequence conflict | 173 | 1 | R → G in BAH12415. Ref.5 | |||||||||||||||||||||||||||||||
| Sequence conflict | 257 | 1 | A → T Ref.3 | |||||||||||||||||||||||||||||||
| Sequence conflict | 276 | 1 | S → F Ref.3 | |||||||||||||||||||||||||||||||
| Sequence conflict | 304 | 1 | K → R in BAH12415. Ref.5 | |||||||||||||||||||||||||||||||
| Sequence conflict | 324 | 1 | P → R Ref.1 | |||||||||||||||||||||||||||||||
| Sequence conflict | 527 | 1 | L → I Ref.1 | |||||||||||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||||||||||
| Beta strand | 368 – 375 | 8 | ||||||||||||||||||||||||||||||||
| Beta strand | 379 – 384 | 6 | ||||||||||||||||||||||||||||||||
| Helix | 387 – 391 | 5 | ||||||||||||||||||||||||||||||||
| Turn | 396 – 398 | 3 | ||||||||||||||||||||||||||||||||
| Turn | 404 – 407 | 4 | ||||||||||||||||||||||||||||||||
| Beta strand | 410 – 412 | 3 | ||||||||||||||||||||||||||||||||
| Helix | 413 – 424 | 12 | ||||||||||||||||||||||||||||||||
| Beta strand | 426 – 428 | 3 | ||||||||||||||||||||||||||||||||
| Beta strand | 430 – 438 | 9 | ||||||||||||||||||||||||||||||||
| Beta strand | 440 – 442 | 3 | ||||||||||||||||||||||||||||||||
| Beta strand | 444 – 455 | 12 | ||||||||||||||||||||||||||||||||
| Beta strand | 458 – 460 | 3 | ||||||||||||||||||||||||||||||||
| Beta strand | 462 – 470 | 9 | ||||||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "cDNA cloning of a novel bHLH-PAS transcription factor superfamily gene, BMAL2; Its mRNA expression, subcellular distribution, and chromosomal localization." Ikeda M., Yu W., Hirai M., Ebisawa T., Honma S., Yoshimura K., Honma K., Nomura M. Biochem. Biophys. Res. Commun. 275:493-502(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6), SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Brain. |
| [2] | "CLIF, a novel cycle-like factor, regulates the circadian oscillation of plasminogen activator inhibitor-1 gene expression." Maemura K., de La Monte S.M., Chin M.T., Layne M.D., Hsieh C.-M., Yet S.-F., Perrella M.A., Lee M.-E. J. Biol. Chem. 275:36847-36851(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), FUNCTION, INDUCTION, TISSUE SPECIFICITY, INTERACTION WITH CLOCK. Tissue: Umbilical vein endothelial cell. |
| [3] | "The basic helix-loop-helix-PAS protein MOP9 is a brain-specific heterodimeric partner of circadian and hypoxia factors." Hogenesch J.B., Gu Y.-Z., Moran S.M., Shimomura K., Radcliffe L.A., Takahashi J.S., Bradfield C.A. J. Neurosci. 20:RC83-RC83(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 7 AND 8), TISSUE SPECIFICITY, INTERACTION WITH CLOCK; NPAS2 AND HIF1A. Tissue: Brain. |
| [4] | "Chicken pineal clock genes: implication of BMAL2 as a bidirectional regulator in circadian clock oscillation." Okano T., Yamamoto K., Okano K., Hirota T., Kasahara T., Sasaki M., Takanaka Y., Fukada Y. Genes Cells 6:825-836(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4). Tissue: Embryonic kidney. |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 9). Tissue: Tongue. |
| [6] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4 AND 5). Tissue: Placenta. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AB039921 mRNA. Translation: BAB01485.1. AF256215 mRNA. Translation: AAG34652.1. AF231338 mRNA. Translation: AAF71306.1. AF231339 mRNA. Translation: AAF71307.1. AF246960 mRNA. Translation: AAL50339.1. AF246961 mRNA. Translation: AAL50340.1. AF246962 mRNA. Translation: AAL50341.1. AF246963 mRNA. Translation: AAL50342.1. AK296706 mRNA. Translation: BAH12415.1. AC068794 Genomic DNA. No translation available. AC092829 Genomic DNA. No translation available. BC000172 mRNA. Translation: AAH00172.3. BC125061 mRNA. Translation: AAI25062.1. BC125062 mRNA. Translation: AAI25063.1. | ||||||||||||
| IPI | IPI00142781. IPI00163662. IPI00465306. IPI00788724. IPI00789255. IPI00795339. IPI00827866. IPI00827897. IPI01009213. | ||||||||||||
| RefSeq | NP_001234931.1. NM_001248002.1. NP_001234932.1. NM_001248003.1. NP_001234933.1. NM_001248004.1. NP_001234934.1. NM_001248005.1. NP_064568.3. NM_020183.4. | ||||||||||||
| UniGene | Hs.434269. Hs.445447. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q8WYA1. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q8WYA1. 3 interactions. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q8WYA1. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 124007121. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q8WYA1. | ||||||||||||
| PRIDE | Q8WYA1. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000261178; ENSP00000261178; ENSG00000029153. ENST00000266503; ENSP00000266503; ENSG00000029153. ENST00000311001; ENSP00000312247; ENSG00000029153. ENST00000395901; ENSP00000379238; ENSG00000029153. ENST00000542388; ENSP00000445836; ENSG00000029153. ENST00000544915; ENSP00000442438; ENSG00000029153. ENST00000546179; ENSP00000438545; ENSG00000029153. | ||||||||||||
| GeneID | 56938. | ||||||||||||
| KEGG | hsa:56938. | ||||||||||||
| UCSC | uc001rht.2. human. uc001rhu.2. human. uc001rhv.2. human. uc001rhw.3. human. uc009zji.2. human. uc010sjp.2. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 56938. | ||||||||||||
| GeneCards | GC12P027485. | ||||||||||||
| H-InvDB | HIX0037110. | ||||||||||||
| HGNC | HGNC:18984. ARNTL2. | ||||||||||||
| MIM | 614517. gene. | ||||||||||||
| neXtProt | NX_Q8WYA1. | ||||||||||||
| PharmGKB | PA134896555. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | NOG288887. | ||||||||||||
| HOVERGEN | HBG107503. | ||||||||||||
| InParanoid | Q8WYA1. | ||||||||||||
| KO | K09099. | ||||||||||||
| OMA | IPQCNPM. | ||||||||||||
| PhylomeDB | Q8WYA1. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q8WYA1. | ||||||||||||
| Bgee | Q8WYA1. | ||||||||||||
| CleanEx | HS_ARNTL2. | ||||||||||||
| Genevestigator | Q8WYA1. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 4.10.280.10. 1 hit. | ||||||||||||
| InterPro | IPR011598. bHLH_dom. IPR001067. Nuc_translocat. IPR001610. PAC. IPR000014. PAS. IPR013767. PAS_fold. IPR013655. PAS_fold_3. [Graphical view] | ||||||||||||
| Pfam | PF00010. HLH. 1 hit. PF00989. PAS. 1 hit. PF08447. PAS_3. 1 hit. [Graphical view] | ||||||||||||
| PRINTS | PR00785. NCTRNSLOCATR. | ||||||||||||
| SMART | SM00353. HLH. 1 hit. SM00086. PAC. 1 hit. SM00091. PAS. 2 hits. [Graphical view] | ||||||||||||
| SUPFAM | SSF47459. HLH_basic. 1 hit. SSF55785. SSF55785. 2 hits. | ||||||||||||
| TIGRFAMs | TIGR00229. sensory_box. 1 hit. | ||||||||||||
| PROSITE | PS50888. BHLH. 1 hit. PS50113. PAC. False negative. PS50112. PAS. 2 hits. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| GenomeRNAi | 56938. | ||||||||||||
| NextBio | 62501. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | BMAL2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8WYA1 Secondary accession number(s): B7Z429 Q9NYQ5 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
