Seroatlas · Human Serome Atlas

BEST3

Bestrophin-3

Also known as: BEST3_HUMAN, MGC13168, MGC40411, VMD2L3

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

Protein identityUniProt · HPA

UniProt accession: Q8N1M1
Gene: BEST3
Ensembl: ENSG00000127325
Chromosome: 12
Canonical length: 668 aa
Protein class: Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

668 residues, UniProt reviewed canonical sequence.

>Q8N1M1|BEST3
     1  MTVTYSSKVA NATFFGFHRL LLKWRGSIYK LLYREFIVFA VLYTAISLVY RLLLTGVQKR
    61  YFEKLSIYCD RYAEQIPVTF VLGFYVTLVV NRWWNQFVNL PWPDRLMFLI SSSVHGSDEH
   121  GRLLRRTLMR YVNLTSLLIF RSVSTAVYKR FPTMDHVVEA GFMTTDERKL FNHLKSPHLK
   181  YWVPFIWFGN LATKARNEGR IRDSVDLQSL MTEMNRYRSW CSLLFGYDWV GIPLVYTQVV
   241  TLAVYTFFFA CLIGRQFLDP TKGYAGHDLD LYIPIFTLLQ FFFYAGWLKV AEQLINPFGE
   301  DDDDFETNWC IDRNLQVSLL AVDEMHMSLP KMKKDIYWDD SAARPPYTLA AADYCIPSFL
   361  GSTVQMGLSG SDFPDEEWLW DYEKHGHRHS MIRRVKRFLS AHEHPSSPRR RSYRRQTSDS
   421  SMFLPRDDLS PARDLLDVPS RNPPRASPTW KKSCFPEGSP TLHFSMGELS TIRETSQTST
   481  LQSLTPQSSV RTSPIKMPLV PEVLITAAEA PVPTSGGYHH DSATSILSSE FTGVQPSKTE
   541  QQQGPMGSIL SPSEKETPPG GPSPQTVSAS AEENIFNCEE DPGDTFLKRW SLPGFLGSSH
   601  TSLGNLSPDP MSSQPALLID TETSSEISGI NIVAGSRVSS DMLYLMENLD TKETDIIELN
   661  KETEESPK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BEST3 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: Cell surface
Secreted: No
Transmembrane segments: 4
Mean surface accessibility (rSASA): 0.51
Highest tissue expression: 67 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 67 nTPM
tongue: 52 nTPM
cerebral cortex: 8.2 nTPM
cerebellum: 7 nTPM
midbrain: 3.4 nTPM
salivary gland: 3.1 nTPM

Single-cell type

myonuclei: 510 nCPM
thymic myoid cells: 374 nCPM
myosatellite cells: 142 nCPM
cardiomyocytes: 123 nCPM
oligodendrocyte progenitor cells: 86 nCPM
respiratory ionocytes: 66 nCPM

Immune cell

memory B-cell: 0.1 nTPM
memory CD4 T-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM
naive CD8 T-cell: 0.1 nTPM
neutrophil: 0.1 nTPM
plasmacytoid DC: 0.1 nTPM

Brain region

cerebellum: 40 nTPM
white matter: 23 nTPM
cerebral cortex: 20 nTPM
medulla oblongata: 19 nTPM
pons: 17 nTPM
basal ganglia: 16 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): 1.43
gnomAD pLI: 0
gnomAD missense Z: 0.56
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BEST3 as an antibody target. Whether an autoantibody or antibody against BEST3 could matter depends on whether native BEST3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BEST3 is annotated at the cell surface, where native BEST3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label BEST3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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