UniProtKB - Q8NFU1 (BEST2_HUMAN)
Protein
Bestrophin-2
Gene
BEST2
Organism
Homo sapiens (Human)
Status
Functioni
Forms calcium-sensitive chloride channels. Permeable to bicarbonate.3 Publications
GO - Molecular functioni
- chloride channel activity Source: UniProtKB-KW
GO - Biological processi
- membrane depolarization Source: HGNC-UCL
- sensory perception of smell Source: HGNC-UCL
Keywordsi
Molecular function | Chloride channel, Ion channel |
Biological process | Ion transport, Transport |
Ligand | Calcium, Chloride |
Enzyme and pathway databases
PathwayCommonsi | Q8NFU1 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
Protein family/group databases
TCDBi | 1.A.46.1.2, the anion channel-forming bestrophin (bestrophin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Bestrophin-2Alternative name(s): Vitelliform macular dystrophy 2-like protein 1 |
Gene namesi | Name:BEST2 Synonyms:VMD2L1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17107, BEST2 |
MIMi | 607335, gene |
neXtProti | NX_Q8NFU1 |
VEuPathDBi | HostDB:ENSG00000039987.6 |
Subcellular locationi
Plasma membrane
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- chloride channel complex Source: BHF-UCL
- cilium Source: HGNC-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 25 | CytoplasmicSequence analysisAdd BLAST | 25 | |
Transmembranei | 26 – 46 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 47 – 70 | ExtracellularSequence analysisAdd BLAST | 24 | |
Transmembranei | 71 – 91 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 92 – 178 | CytoplasmicSequence analysisAdd BLAST | 87 | |
Transmembranei | 179 – 199 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 200 – 228 | ExtracellularSequence analysisAdd BLAST | 29 | |
Intramembranei | 229 – 249 | Sequence analysisAdd BLAST | 21 | |
Topological domaini | 250 – 270 | ExtracellularSequence analysisAdd BLAST | 21 | |
Transmembranei | 271 – 291 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 292 – 509 | CytoplasmicSequence analysisAdd BLAST | 218 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 54831 |
OpenTargetsi | ENSG00000039987 |
PharmGKBi | PA162377481 |
Miscellaneous databases
Pharosi | Q8NFU1, Tbio |
Genetic variation databases
BioMutai | BEST2 |
DMDMi | 38503353 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000143118 | 1 – 509 | Bestrophin-2Add BLAST | 509 |
Proteomic databases
MassIVEi | Q8NFU1 |
PaxDbi | Q8NFU1 |
PeptideAtlasi | Q8NFU1 |
PRIDEi | Q8NFU1 |
ProteomicsDBi | 73356 |
TopDownProteomicsi | Q8NFU1 |
PTM databases
iPTMneti | Q8NFU1 |
PhosphoSitePlusi | Q8NFU1 |
Expressioni
Tissue specificityi
Mainly confined to the retinal pigment epithelium and colon.1 Publication
Gene expression databases
Bgeei | ENSG00000039987, Expressed in transverse colon and 90 other tissues |
ExpressionAtlasi | Q8NFU1, baseline and differential |
Genevisiblei | Q8NFU1, HS |
Organism-specific databases
HPAi | ENSG00000039987, Group enriched (intestine, retina, skin) |
Interactioni
Binary interactionsi
Hide detailsQ8NFU1
Protein-protein interaction databases
BioGRIDi | 120185, 16 interactors |
IntActi | Q8NFU1, 16 interactors |
STRINGi | 9606.ENSP00000448310 |
Miscellaneous databases
RNActi | Q8NFU1, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the bestrophin family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3547, Eukaryota |
GeneTreei | ENSGT00940000161361 |
HOGENOMi | CLU_018069_0_0_1 |
InParanoidi | Q8NFU1 |
OMAi | MYDDLAM |
OrthoDBi | 279144at2759 |
PhylomeDBi | Q8NFU1 |
TreeFami | TF315803 |
Family and domain databases
InterProi | View protein in InterPro IPR000615, Bestrophin IPR021134, Bestrophin/UPF0187 |
PANTHERi | PTHR10736, PTHR10736, 1 hit |
Pfami | View protein in Pfam PF01062, Bestrophin, 1 hit |
(1+)i Sequence
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
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0YIH1 | H0YIH1_HUMAN | Bestrophin | BEST2 | 78 | Annotation score: |
Sequence cautioni
The sequence BAA90970 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 388 | E → G in AAR99655 (PubMed:12907679).Curated | 1 | |
Sequence conflicti | 388 | E → G in BAA90970 (PubMed:14702039).Curated | 1 |
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. |
CCDSi | CCDS42506.1 |
RefSeqi | NP_060152.2, NM_017682.2 XP_005260020.1, XM_005259963.3 |
Genome annotation databases
Ensembli | ENST00000042931; ENSP00000042931; ENSG00000039987 ENST00000549706; ENSP00000448310; ENSG00000039987 ENST00000553030; ENSP00000447203; ENSG00000039987 |
GeneIDi | 54831 |
KEGGi | hsa:54831 |
UCSCi | uc002mux.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. |
CCDSi | CCDS42506.1 |
RefSeqi | NP_060152.2, NM_017682.2 XP_005260020.1, XM_005259963.3 |
3D structure databases
SMRi | Q8NFU1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120185, 16 interactors |
IntActi | Q8NFU1, 16 interactors |
STRINGi | 9606.ENSP00000448310 |
Protein family/group databases
TCDBi | 1.A.46.1.2, the anion channel-forming bestrophin (bestrophin) family |
PTM databases
iPTMneti | Q8NFU1 |
PhosphoSitePlusi | Q8NFU1 |
Genetic variation databases
BioMutai | BEST2 |
DMDMi | 38503353 |
Proteomic databases
MassIVEi | Q8NFU1 |
PaxDbi | Q8NFU1 |
PeptideAtlasi | Q8NFU1 |
PRIDEi | Q8NFU1 |
ProteomicsDBi | 73356 |
TopDownProteomicsi | Q8NFU1 |
Protocols and materials databases
Antibodypediai | 26152, 142 antibodies |
Genome annotation databases
Ensembli | ENST00000042931; ENSP00000042931; ENSG00000039987 ENST00000549706; ENSP00000448310; ENSG00000039987 ENST00000553030; ENSP00000447203; ENSG00000039987 |
GeneIDi | 54831 |
KEGGi | hsa:54831 |
UCSCi | uc002mux.4, human |
Organism-specific databases
CTDi | 54831 |
DisGeNETi | 54831 |
GeneCardsi | BEST2 |
HGNCi | HGNC:17107, BEST2 |
HPAi | ENSG00000039987, Group enriched (intestine, retina, skin) |
MIMi | 607335, gene |
neXtProti | NX_Q8NFU1 |
OpenTargetsi | ENSG00000039987 |
PharmGKBi | PA162377481 |
VEuPathDBi | HostDB:ENSG00000039987.6 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3547, Eukaryota |
GeneTreei | ENSGT00940000161361 |
HOGENOMi | CLU_018069_0_0_1 |
InParanoidi | Q8NFU1 |
OMAi | MYDDLAM |
OrthoDBi | 279144at2759 |
PhylomeDBi | Q8NFU1 |
TreeFami | TF315803 |
Enzyme and pathway databases
PathwayCommonsi | Q8NFU1 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
Miscellaneous databases
BioGRID-ORCSi | 54831, 7 hits in 874 CRISPR screens |
GeneWikii | BEST2 |
GenomeRNAii | 54831 |
Pharosi | Q8NFU1, Tbio |
PROi | PR:Q8NFU1 |
RNActi | Q8NFU1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000039987, Expressed in transverse colon and 90 other tissues |
ExpressionAtlasi | Q8NFU1, baseline and differential |
Genevisiblei | Q8NFU1, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000615, Bestrophin IPR021134, Bestrophin/UPF0187 |
PANTHERi | PTHR10736, PTHR10736, 1 hit |
Pfami | View protein in Pfam PF01062, Bestrophin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BEST2_HUMAN | |
Accessioni | Q8NFU1Primary (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: | February 10, 2021 | |
This is version 147 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families