BEST2

Protein identityUniProt · HPA

UniProt accession

Q8NFU1

Gene

BEST2

Ensembl

ENSG00000039987

Chromosome

19

Canonical length

509 aa

Protein class

Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Flagellar centriole,Principal piece,End piece

OverviewNCBI Gene

This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

509 residues, UniProt reviewed canonical sequence.

>Q8NFU1|BEST2
     1  MTVTYTARVA NARFGGFSQL LLLWRGSIYK LLWRELLCFL GFYMALSAAY RFVLTEGQKR
    61  YFEKLVIYCD QYASLIPVSF VLGFYVTLVV NRWWSQYLCM PLPDALMCVV AGTVHGRDDR
   121  GRLYRRTLMR YAGLSAVLIL RSVSTAVFKR FPTIDHVVEA GFMTREERKK FENLNSSYNK
   181  YWVPCVWFSN LAAQARREGR IRDNSALKLL LEELNVFRGK CGMLFHYDWI SVPLVYTQVV
   241  TIALYSYFLA CLIGRQFLDP AQGYKDHDLD LCVPIFTLLQ FFFYAGWLKV AEQLINPFGE
   301  DDDDFETNFL IDRNFQVSML AVDEMYDDLA VLEKDLYWDA AEARAPYTAA TVFQLRQPSF
   361  QGSTFDITLA KEDMQFQRLD GLDGPMGEAP GDFLQRLLPA GAGMVAGGPL GRRLSFLLRK
   421  NSCVSEASTG ASCSCAVVPE GAAPECSCGD PLLDPGLPEP EAPPPAGPEP LTLIPGPVEP
   481  FSIVTMPGPR GPAPPWLPSP IGEEEENLA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BEST2 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)

0.43

Highest tissue expression

43 nTPM

Expression across tissuesHPA

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)

1.31

gnomAD pLI

0

gnomAD missense Z

1.42

DepMap mean gene effect

-0.02

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

• chloride transmembrane transport
• membrane depolarization
• sensory perception of smell

Molecular functions

• bicarbonate channel activity
• chloride channel activity
• ligand-gated monoatomic anion channel activity
• ligand-gated monoatomic cation channel activity
• metal ion binding
• intracellularly ligand-gated monoatomic ion channel activity

Cellular components

• basolateral plasma membrane
• chloride channel complex
• cilium
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Bestrophin
• Bestrophin-like
• Bestrophin, RFP-TM, chloride channel

KeywordsUniProt

• Calcium
• Cell membrane
• Chloride
• Chloride channel
• Ion channel
• Ion transport
• Membrane
• Metal-binding
• Transmembrane
• Transmembrane helix
• Transport

InteractionsUniProt · HPA

Protein binding partners of BEST2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GLUL