BMAL2 (basic helix-loop-helix ARNT like 2)

Gene

• Entrez ID: 56938
• Gene name: Basic helix-loop-helix ARNT like 2
• Gene symbol: BMAL2
• Synonyms (NCBI Gene): ARNTL2, CLIF, MOP9, PASD9, bHLHe6
• Chromosome: 12
• Chromosome location: 12p11.23

miRNA

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
MIRT185711	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT185712	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT185716	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT185717	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT185713	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT185719	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT562629	hsa-miR-5697	PAR-CLIP	20371350
MIRT185721	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT562628	hsa-miR-6832-3p	PAR-CLIP	20371350
MIRT562627	hsa-miR-1297	PAR-CLIP	20371350
MIRT562626	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT562625	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT562624	hsa-miR-4465	PAR-CLIP	20371350
MIRT562623	hsa-miR-7703	PAR-CLIP	20371350
MIRT562622	hsa-miR-4325	PAR-CLIP	20371350
MIRT185714	hsa-miR-204-5p	PAR-CLIP	20371350
MIRT185715	hsa-miR-211-5p	PAR-CLIP	20371350
MIRT185711	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT185712	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT185716	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT185717	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT185713	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT185719	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT562629	hsa-miR-5697	PAR-CLIP	20371350
MIRT185721	hsa-miR-6760-3p	PAR-CLIP	20371350
MIRT562628	hsa-miR-6832-3p	PAR-CLIP	20371350
MIRT562627	hsa-miR-1297	PAR-CLIP	20371350
MIRT562626	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT562625	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT562624	hsa-miR-4465	PAR-CLIP	20371350
MIRT562623	hsa-miR-7703	PAR-CLIP	20371350
MIRT562622	hsa-miR-4325	PAR-CLIP	20371350

Gene ontology (GO)

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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	12055078
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	11018023
GO:0005515	Function	Protein binding	IPI	11018023, 24722188, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12055078, 12738229
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11018023
GO:0005654	Component	Nucleoplasm	IDA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	11018023
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	12055078
GO:0007623	Process	Circadian rhythm	IDA	10864977
GO:0009649	Process	Entrainment of circadian clock	NAS	11018023
GO:0032922	Process	Circadian regulation of gene expression	IDA	10864977
GO:0032922	Process	Circadian regulation of gene expression	IEA
GO:0034751	Component	Aryl hydrocarbon receptor complex	IBA
GO:0042753	Process	Positive regulation of circadian rhythm	IDA	12738229
GO:0042753	Process	Positive regulation of circadian rhythm	IEA
GO:0042753	Process	Positive regulation of circadian rhythm	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	10864977, 12738229
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15147242
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0070888	Function	E-box binding	IDA	12738229
GO:0070888	Function	E-box binding	IEA
GO:1990513	Component	CLOCK-BMAL transcription complex	IEA
GO:1990513	Component	CLOCK-BMAL transcription complex	IPI	10864977

Other IDs

• MIM: 614517
• HGNC: 18984
• e!Ensembl: ENSG00000029153

Protein

• UniProt ID: 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
  DKMNNLIEELSAMIPQCNPMARKLDKLTVLRMAVQHLRSLKGLTNSYVGSNYRPSFLQDN
  ELRHLILKTAEGFLFVVGCERGKILFVSKSVSKILNYDQASLTGQSLFDFLHPKDVAKVK
  EQLSSFDISPREKLIDAKTGLQVHSNLHAGRTRVYSGSRRSFFCRIKSCKISVKEEHGCL
  PNSKKKEHRKFYTIHCTGYLRSWPPNIVGMEEERNSKKDNSNFTCLVAIGRLQPYIVPQN
  SGEINVKPTEFITRFAVNGKFVYVDQRATAILGYLPQELLGTSCYEYFHQDDHNNLTDKH
  KAVLQSKEKILTDSYKFRAKDGSFVTLKSQWFSFTNPWTKELEYIVSVNTLVLGHSEPGE
  ASFLPCSSQSSEESSRQSCMSVPGMSTGTVLGAGSIGTDIANEILDLQRLQSSSYLDDSS
  PTGLMKDTHTVNCRSMSNKELFPPSPSEMGELEATRQNQSTVAVHSHEPLLSDGAQLDFD
  ALCDNDDTAMAAFMNYLEAEGGLGDPGDFSDIQWTL

• Sequence length: 636

Pathways

Reactome:

BMAL1:CLOCK,NPAS2 activates circadian gene expression

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary disease, chronic obstructive, susceptibility to	association; protective	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27150038		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23335987, 26710124	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25957987		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	18228528, 20072116		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	18228528, 25989161, 36481223	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	23822714		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23822714, 25485508	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29455641		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32826856	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Liver Failure	Liver failure	BEFREE	28811718, 28851246		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	38303405	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22198637		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22198637, 31611992		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	28445322		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37563198	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26332978, 27671790, 29577261		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26497775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
End Stage Liver Disease	End Stage Liver Disease	BEFREE	28240612, 28746121, 28811718, 28851246, 29735787		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	30937312		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	23335987	Associate	★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	BEFREE	29343867		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	37563198	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28114104, 29735786		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	28445322, 28856540		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23822714		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29455641		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22198637		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	BEFREE	24083598		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	Pubtator	24083598	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	11018023	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22198637		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26497775		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35222383, 35800432, 36906533	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21658431		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	38303405	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	26710124		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	25957987		★☆☆☆☆ Found in Text Mining only