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Protein

Bestrophin-2

Gene

BEST2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Forms calcium-sensitive chloride channels. Permeable to bicarbonate.3 Publications

GO - Molecular functioni

  • chloride channel activity Source: GO_Central

GO - Biological processi

Keywordsi

Molecular functionChloride channel, Ion channel
Biological processIon transport, Transport
LigandCalcium, Chloride

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Protein family/group databases

TCDBi1.A.46.1.2 the anion channel-forming bestrophin (bestrophin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Bestrophin-2
Alternative name(s):
Vitelliform macular dystrophy 2-like protein 1
Gene namesi
Name:BEST2
Synonyms:VMD2L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000039987.6
HGNCiHGNC:17107 BEST2
MIMi607335 gene
neXtProtiNX_Q8NFU1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 25CytoplasmicSequence analysisAdd BLAST25
Transmembranei26 – 46HelicalSequence analysisAdd BLAST21
Topological domaini47 – 70ExtracellularSequence analysisAdd BLAST24
Transmembranei71 – 91HelicalSequence analysisAdd BLAST21
Topological domaini92 – 178CytoplasmicSequence analysisAdd BLAST87
Transmembranei179 – 199HelicalSequence analysisAdd BLAST21
Topological domaini200 – 228ExtracellularSequence analysisAdd BLAST29
Intramembranei229 – 249Sequence analysisAdd BLAST21
Topological domaini250 – 270ExtracellularSequence analysisAdd BLAST21
Transmembranei271 – 291HelicalSequence analysisAdd BLAST21
Topological domaini292 – 509CytoplasmicSequence analysisAdd BLAST218

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi54831
OpenTargetsiENSG00000039987
PharmGKBiPA162377481

Polymorphism and mutation databases

BioMutaiBEST2
DMDMi38503353

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001431181 – 509Bestrophin-2Add BLAST509

Proteomic databases

PaxDbiQ8NFU1
PeptideAtlasiQ8NFU1
PRIDEiQ8NFU1
ProteomicsDBi73356
TopDownProteomicsiQ8NFU1

PTM databases

iPTMnetiQ8NFU1
PhosphoSitePlusiQ8NFU1

Expressioni

Tissue specificityi

Mainly confined to the retinal pigment epithelium and colon.1 Publication

Gene expression databases

BgeeiENSG00000039987 Expressed in 66 organ(s), highest expression level in transverse colon
CleanExiHS_BEST2
ExpressionAtlasiQ8NFU1 baseline and differential
GenevisibleiQ8NFU1 HS

Organism-specific databases

HPAiHPA046229

Interactioni

Protein-protein interaction databases

IntActiQ8NFU1, 16 interactors
STRINGi9606.ENSP00000042931

Structurei

3D structure databases

ProteinModelPortaliQ8NFU1
SMRiQ8NFU1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the bestrophin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3547 Eukaryota
ENOG410XS3J LUCA
GeneTreeiENSGT00390000002997
HOGENOMiHOG000115678
HOVERGENiHBG044928
InParanoidiQ8NFU1
KOiK13879
OMAiLMCVVAG
OrthoDBiEOG091G06XO
PhylomeDBiQ8NFU1
TreeFamiTF315803

Family and domain databases

InterProiView protein in InterPro
IPR000615 Bestrophin
IPR021134 Bestrophin/UPF0187
PANTHERiPTHR10736 PTHR10736, 1 hit
PfamiView protein in Pfam
PF01062 Bestrophin, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q8NFU1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTVTYTARVA NARFGGFSQL LLLWRGSIYK LLWRELLCFL GFYMALSAAY
60 70 80 90 100
RFVLTEGQKR YFEKLVIYCD QYASLIPVSF VLGFYVTLVV NRWWSQYLCM
110 120 130 140 150
PLPDALMCVV AGTVHGRDDR GRLYRRTLMR YAGLSAVLIL RSVSTAVFKR
160 170 180 190 200
FPTIDHVVEA GFMTREERKK FENLNSSYNK YWVPCVWFSN LAAQARREGR
210 220 230 240 250
IRDNSALKLL LEELNVFRGK CGMLFHYDWI SVPLVYTQVV TIALYSYFLA
260 270 280 290 300
CLIGRQFLDP AQGYKDHDLD LCVPIFTLLQ FFFYAGWLKV AEQLINPFGE
310 320 330 340 350
DDDDFETNFL IDRNFQVSML AVDEMYDDLA VLEKDLYWDA AEARAPYTAA
360 370 380 390 400
TVFQLRQPSF QGSTFDITLA KEDMQFQRLD GLDGPMGEAP GDFLQRLLPA
410 420 430 440 450
GAGMVAGGPL GRRLSFLLRK NSCVSEASTG ASCSCAVVPE GAAPECSCGD
460 470 480 490 500
PLLDPGLPEP EAPPPAGPEP LTLIPGPVEP FSIVTMPGPR GPAPPWLPSP

IGEEEENLA
Length:509
Mass (Da):57,139
Last modified:October 1, 2002 - v1
Checksum:iE557B975BFDC692A
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YIH1H0YIH1_HUMAN
Bestrophin
BEST2
78Annotation score:

Sequence cautioni

The sequence BAA90970 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti388E → G in AAR99655 (PubMed:12907679).Curated1
Sequence conflicti388E → G in BAA90970 (PubMed:14702039).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF440756 mRNA Translation: AAM76995.1
AY515705 mRNA Translation: AAR99655.1
AK000139 mRNA Translation: BAA90970.1 Different initiation.
CCDSiCCDS42506.1
RefSeqiNP_060152.2, NM_017682.2
XP_005260020.1, XM_005259963.3
UniGeneiHs.435611

Genome annotation databases

EnsembliENST00000042931; ENSP00000042931; ENSG00000039987
ENST00000549706; ENSP00000448310; ENSG00000039987
ENST00000553030; ENSP00000447203; ENSG00000039987
GeneIDi54831
KEGGihsa:54831
UCSCiuc002mux.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF440756 mRNA Translation: AAM76995.1
AY515705 mRNA Translation: AAR99655.1
AK000139 mRNA Translation: BAA90970.1 Different initiation.
CCDSiCCDS42506.1
RefSeqiNP_060152.2, NM_017682.2
XP_005260020.1, XM_005259963.3
UniGeneiHs.435611

3D structure databases

ProteinModelPortaliQ8NFU1
SMRiQ8NFU1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8NFU1, 16 interactors
STRINGi9606.ENSP00000042931

Protein family/group databases

TCDBi1.A.46.1.2 the anion channel-forming bestrophin (bestrophin) family

PTM databases

iPTMnetiQ8NFU1
PhosphoSitePlusiQ8NFU1

Polymorphism and mutation databases

BioMutaiBEST2
DMDMi38503353

Proteomic databases

PaxDbiQ8NFU1
PeptideAtlasiQ8NFU1
PRIDEiQ8NFU1
ProteomicsDBi73356
TopDownProteomicsiQ8NFU1

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000042931; ENSP00000042931; ENSG00000039987
ENST00000549706; ENSP00000448310; ENSG00000039987
ENST00000553030; ENSP00000447203; ENSG00000039987
GeneIDi54831
KEGGihsa:54831
UCSCiuc002mux.4 human

Organism-specific databases

CTDi54831
DisGeNETi54831
EuPathDBiHostDB:ENSG00000039987.6
GeneCardsiBEST2
HGNCiHGNC:17107 BEST2
HPAiHPA046229
MIMi607335 gene
neXtProtiNX_Q8NFU1
OpenTargetsiENSG00000039987
PharmGKBiPA162377481
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3547 Eukaryota
ENOG410XS3J LUCA
GeneTreeiENSGT00390000002997
HOGENOMiHOG000115678
HOVERGENiHBG044928
InParanoidiQ8NFU1
KOiK13879
OMAiLMCVVAG
OrthoDBiEOG091G06XO
PhylomeDBiQ8NFU1
TreeFamiTF315803

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Miscellaneous databases

GeneWikiiBEST2
GenomeRNAii54831
PROiPR:Q8NFU1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000039987 Expressed in 66 organ(s), highest expression level in transverse colon
CleanExiHS_BEST2
ExpressionAtlasiQ8NFU1 baseline and differential
GenevisibleiQ8NFU1 HS

Family and domain databases

InterProiView protein in InterPro
IPR000615 Bestrophin
IPR021134 Bestrophin/UPF0187
PANTHERiPTHR10736 PTHR10736, 1 hit
PfamiView protein in Pfam
PF01062 Bestrophin, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBEST2_HUMAN
AccessioniPrimary (citable) accession number: Q8NFU1
Secondary accession number(s): Q53YQ8, Q9NXP0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 21, 2003
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 131 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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