Seroatlas · Human Serome Atlas

BMAL2

Basic helix-loop-helix ARNT-like protein 2

Also known as: ARNTL2, bHLHe6, BMAL2_HUMAN, CLIF, MOP9, PASD9

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8WYA1
Gene: BMAL2
Ensembl: ENSG00000029153
Chromosome: 12
Canonical length: 636 aa
Protein class: Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Nucleoli
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

636 residues, UniProt reviewed canonical sequence.

>Q8WYA1|BMAL2
     1  MAAEEEAAAG GKVLREENQC IAPVVSSRVS PGTRPTAMGS FSSHMTEFPR KRKGSDSDPS
    61  QSGIMTEKVV EKLSQNPLTY LLSTRIEISA SSGSRVEDGE HQVKMKAFRE AHSQTEKRRR
   121  DKMNNLIEEL SAMIPQCNPM ARKLDKLTVL RMAVQHLRSL KGLTNSYVGS NYRPSFLQDN
   181  ELRHLILKTA EGFLFVVGCE RGKILFVSKS VSKILNYDQA SLTGQSLFDF LHPKDVAKVK
   241  EQLSSFDISP REKLIDAKTG LQVHSNLHAG RTRVYSGSRR SFFCRIKSCK ISVKEEHGCL
   301  PNSKKKEHRK FYTIHCTGYL RSWPPNIVGM EEERNSKKDN SNFTCLVAIG RLQPYIVPQN
   361  SGEINVKPTE FITRFAVNGK FVYVDQRATA ILGYLPQELL GTSCYEYFHQ DDHNNLTDKH
   421  KAVLQSKEKI LTDSYKFRAK DGSFVTLKSQ WFSFTNPWTK ELEYIVSVNT LVLGHSEPGE
   481  ASFLPCSSQS SEESSRQSCM SVPGMSTGTV LGAGSIGTDI ANEILDLQRL QSSSYLDDSS
   541  PTGLMKDTHT VNCRSMSNKE LFPPSPSEMG ELEATRQNQS TVAVHSHEPL LSDGAQLDFD
   601  ALCDNDDTAM AAFMNYLEAE GGLGDPGDFS DIQWTL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BMAL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.5
Highest tissue expression: 26 nTPM

Expression across tissuesHPA

Tissue

esophagus: 26 nTPM
tonsil: 21 nTPM
urinary bladder: 14 nTPM
vagina: 12 nTPM
stomach: 10 nTPM
cervix: 10 nTPM

Single-cell type

esophageal apical cells: 717 nCPM
urothelial cells: 396 nCPM
respiratory basal cells: 233 nCPM
endometrial secretory cells: 195 nCPM
respiratory deuterosomal cells: 194 nCPM
suprabasal keratinocytes: 143 nCPM

Immune cell

basophil: 1.3 nTPM
neutrophil: 0.5 nTPM
T-reg: 0.5 nTPM
myeloid DC: 0.4 nTPM
classical monocyte: 0.1 nTPM
eosinophil: 0.1 nTPM

Brain region

cerebral cortex: 23 nTPM
white matter: 14 nTPM
basal ganglia: 14 nTPM
hippocampal formation: 13 nTPM
hypothalamus: 13 nTPM
amygdala: 12 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.88
gnomAD pLI: 0
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BMAL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BMAL2 as an antibody target. Whether an autoantibody or antibody against BMAL2 could matter depends on whether native BMAL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BMAL2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BMAL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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