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Protein

Bestrophin-2

Gene

BEST2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Calcium, Chloride

Enzyme and pathway databases

BioCyciZFISH:ENSG00000039987-MONOMER.
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

HGNCiHGNC:17107. BEST2.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

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.
TopDownProteomicsiQ8NFU1.

PTM databases

iPTMnetiQ8NFU1.
PhosphoSitePlusiQ8NFU1.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000039987.
CleanExiHS_BEST2.
ExpressionAtlasiQ8NFU1. baseline and differential.
GenevisibleiQ8NFU1. HS.

Organism-specific databases

HPAiHPA046229.

Interactioni

Protein-protein interaction databases

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.
OMAiDRYWNDS.
OrthoDBiEOG091G06XO.
PhylomeDBiQ8NFU1.
TreeFamiTF315803.

Family and domain databases

InterProiIPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view]
PANTHERiPTHR10736. PTHR10736. 1 hit.
PfamiPF01062. Bestrophin. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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.

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

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.
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.
GeneCardsiBEST2.
HGNCiHGNC:17107. BEST2.
HPAiHPA046229.
MIMi607335. gene.
neXtProtiNX_Q8NFU1.
OpenTargetsiENSG00000039987.
PharmGKBiPA162377481.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000039987-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

GeneWikiiBEST2.
GenomeRNAii54831.
PROiQ8NFU1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000039987.
CleanExiHS_BEST2.
ExpressionAtlasiQ8NFU1. baseline and differential.
GenevisibleiQ8NFU1. HS.

Family and domain databases

InterProiIPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view]
PANTHERiPTHR10736. PTHR10736. 1 hit.
PfamiPF01062. Bestrophin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBEST2_HUMAN
AccessioniPrimary (citable) accession number: Q8NFU1
Secondary accession number(s): Q53YQ8, Q9NXP0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 21, 2003
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 121 of the entry and version 1 of the sequence. [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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.