Gene Gene information from NCBI Gene database.
Entrez ID 56938
Gene name Basic helix-loop-helix ARNT like 2
Gene symbol BMAL2
Synonyms (NCBI Gene)
ARNTL2CLIFMOP9PASD9bHLHe6
Chromosome 12
Chromosome location 12p11.23
miRNA miRNA information provided by mirtarbase database.
37
miRTarBase ID miRNA Experiments Reference
MIRT016419 hsa-miR-193b-3p Microarray 20304954
MIRT019814 hsa-miR-375 Microarray 20215506
MIRT026501 hsa-miR-192-5p Microarray 19074876
MIRT185714 hsa-miR-204-5p PAR-CLIP 20371350
MIRT185715 hsa-miR-211-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 15147242
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 15147242
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614517 18984 ENSG00000029153
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WYA1
Protein name Basic helix-loop-helix ARNT-like protein 2 (Aryl hydrocarbon receptor nuclear translocator-like protein 2) (Basic-helix-loop-helix-PAS protein MOP9) (Brain and muscle ARNT-like 2) (CYCLE-like factor) (CLIF) (Class E basic helix-loop-helix protein 6) (bHLH
Protein function Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in g
PDB 2KDK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 108 161 Helix-loop-helix DNA-binding domain Domain
PF00989 PAS 181 287 PAS fold Domain
PF14598 PAS_11 368 477 Domain
Tissue specificity 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
Sequence
MAAEEEAAAGGKVLREENQCIAPVVSSRVSPGTRPTAMGSFSSHMTEFPRKRKGSDSDPS
QSGIMTEKVVEKLSQNPLTYLLSTRIEISASSGSRVEDGEHQVKMKAFREAHSQTEKRRR
DKMNNLIEELSAMIPQCNPMARKLDKLTVLRMAVQHLRSLK
GLTNSYVGSNYRPSFLQDN
ELRHLILKTAEGFLFVVGCERGKILFVSKSVSKILNYDQASLTGQSLFDFLHPKDVAKVK
EQLSSFDISPREKLIDAKTGLQVHSNLHAGRTRVYSGSRRSFFCRIK
SCKISVKEEHGCL
PNSKKKEHRKFYTIHCTGYLRSWPPNIVGMEEERNSKKDNSNFTCLVAIGRLQPYIVPQN
SGEINVKPTEFITRFAVNGKFVYVDQRATAILGYLPQELLGTSCYEYFHQDDHNNLTDKH
KAVLQSKEKILTDSYKFRAKDGSFVTLKSQWFSFTNPWTKELEYIVSVNTLVLGHSE
PGE
ASFLPCSSQSSEESSRQSCMSVPGMSTGTVLGAGSIGTDIANEILDLQRLQSSSYLDDSS
PTGLMKDTHTVNCRSMSNKELFPPSPSEMGELEATRQNQSTVAVHSHEPLLSDGAQLDFD
ALCDNDDTAMAAFMNYLEAEGGLGDPGDFSDIQWTL
Sequence length 636
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    BMAL1:CLOCK,NPAS2 activates circadian gene expression
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma association rs4964059 RCV005930111
Pulmonary disease, chronic obstructive, susceptibility to association; protective rs17497857, rs4964059, rs11048977 RCV002508827
RCV002508828
RCV002508841
Thymoma Uncertain significance rs750336615 RCV005931229