Reviewed,
UniProtKB/Swiss-Prot Q8WYA1 (BMAL2_HUMAN)
Last modified
September 23, 2008.
Version 49.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: Aryl hydrocarbon receptor nuclear translocator-like protein 2 Alternative name(s): Brain and muscle ARNT-like 2 Member of PAS protein 9 Basic-helix-loop-helix-PAS protein MOP9 CYCLE-like factor Short name=CLIF | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| 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. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | ARNTL2-CLOCK heterodimers activate E-box element (3'-CACGTG-5') transcription. Also, in umbilical vein endothelial cells, activates SERPINE1 through E-box sites. This transactivation is inhibited by PER2 and CRY1. |
| 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. |
| 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. |
| Induction | Constitutively expressed. Has no circadian rhythm expression pattern. |
| Sequence similarities | Contains 1 basic helix-loop-helix (bHLH) domain. Contains 1 PAC (PAS-associated C-terminal) domain. Contains 2 PAS (PER-ARNT-SIM) domains. |
Ontologies
Keywords | |
|---|---|
| Biological process | Biological rhythms Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat |
| Ligand | DNA-binding |
| Molecular function | Activator |
Gene Ontology (GO) | |
| Biological process | entrainment of circadian clock Ref.2 Non-traceable author statement. Source: UniProtKB regulation of transcription, DNA-dependent Ref.2Non-traceable author statement. Source: UniProtKB |
| Cellular component | nucleus Ref.2 Non-traceable author statement. Source: UniProtKB |
| Molecular function | transcription factor activity Ref.2 Non-traceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 8 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. | |||||
| Notes: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | ||||
Molecule processing | ||||||||
|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 636 | 636 | Aryl hydrocarbon receptor nuclear translocator-like protein 2 | |||||
Regions | ||||||||
| Domain | 121 – 161 | 41 | Helix-loop-helix motif | |||||
| Domain | 178 – 250 | 73 | PAS 1 | |||||
| Domain | 357 – 427 | 71 | PAS 2 | |||||
| Domain | 432 – 475 | 44 | PAC | |||||
| DNA binding | 108 – 120 | 13 | Basic motif | |||||
Natural variations | ||||||||
| Alternative sequence | 1 – 37 | 37 | Missing in isoform 6, isoform 7 and isoform 8. | |||||
| Alternative sequence | 11 | 1 | G → GEVAGGEATAPG in isoform 3. | |||||
| Alternative sequence | 61 | 1 | Q → H in isoform 8. | |||||
| Alternative sequence | 62 – 95 | 34 | Missing in isoform 3, isoform 4, isoform 5 and isoform 6. | |||||
| Alternative sequence | 62 – 74 | 13 | Missing in isoform 8. | |||||
| Alternative sequence | 96 – 109 | 14 | Missing in isoform 2, isoform 3, isoform 4, isoform 6, isoform 7 and isoform 8. | |||||
| Natural variant | 340 | 1 | N → S: dbSNP rs1037921. | |||||
| Natural variant | 574 | 1 | A → V: dbSNP rs11049005. | |||||
Experimental info | ||||||||
| Sequence conflict | 41 | 1 | F → S Ref.1 | |||||
| Sequence conflict | 257 | 1 | A → T Ref.3 | |||||
| Sequence conflict | 276 | 1 | S → F Ref.3 | |||||
| Sequence conflict | 324 | 1 | P → R Ref.1 | |||||
| Sequence conflict | 527 | 1 | L → I Ref.1 | |||||
Sequences
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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: 10964693] [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: 11018023] [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: 10864977] [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: 11554928] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4). Tissue: Embryonic kidney. |
| [5] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4 AND 5). Tissue: Placenta. |
Cross-references
Sequence databases | |
|---|---|
| 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. BC000172 mRNA. Translation: AAH00172.3. BC125061 mRNA. Translation: AAI25062.1. BC125062 mRNA. Translation: AAI25063.1. | |
| RefSeq | NP_064568.3. |
| UniGene | Hs.434269 Hs.663740 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1AM9 based on UniProtKB P36956. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8WYA1. |
Genome annotation databases | |
| Ensembl | ENSG00000029153. Homo sapiens. [Contig view] |
| GeneID | 56938. |
| KEGG | hsa:56938. |
Organism-specific databases | |
| HGNC | HGNC:18984. ARNTL2. |
| PharmGKB | PA134896555. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOVERGEN | Q8WYA1. |
Gene expression databases | |
| ArrayExpress | Q8WYA1. |
| CleanEx | HS_ARNTL2. |
Family and domain databases | |
| InterPro | IPR001092. HLH_basic. IPR011598. HLH_DNA_bd. IPR001610. PAC. IPR000014. PAS. IPR000700. PAS-assoc_C. IPR013655. PAS_3. IPR013767. PAS_fold. [Graphical view] |
| Gene3D | G3DSA:4.10.280.10. HLH_DNA_bd. 1 hit. |
| Pfam | PF00010. HLH. 1 hit. PF00989. PAS. 1 hit. PF08447. PAS_3. 1 hit. [Graphical view] |
| SMART | SM00353. HLH. 1 hit. SM00086. PAC. 1 hit. SM00091. PAS. 2 hits. [Graphical view] |
| PROSITE | PS50888. HLH. 1 hit. PS50113. PAC. False negative. PS50112. PAS. 2 hits. [Graphical view] |
| ProDom | Q8WYA1. [Graphical view] [Entries sharing at least one domain] |
| BLOCKS | Search... |
Other Resources | |
| ProtoNet | Search... |
Entry information
| Entry name | BMAL2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8WYA1 Secondary accession number(s): Q8WYA2 Q9NYQ5 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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 |
| UniProtKB secondary accession numbers Index of UniProtKB secondary accession numbers |
| SIMILARITY comments Index of protein domains and families |

Clusters with


