BEST2

Functionⁱ

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

GO - Molecular functionⁱ

chloride channel activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

membrane depolarization Source: HGNC
sensory perception of smell Source: HGNC

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Chloride channel, Ion channel
Biological process	Ion transport, Transport
Ligand	Calcium, Chloride

Enzyme and pathway databases

Reactomeⁱ	R-HSA-2672351 Stimuli-sensing channels

Reactomeⁱ

R-HSA-2672351 Stimuli-sensing channels

Protein family/group databases

TCDBⁱ	1.A.46.1.2 the anion channel-forming bestrophin (bestrophin) family

TCDBⁱ

1.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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 19

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000039987.6
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:17107 BEST2
MIMⁱ	607335 gene
neXtProtⁱ	NX_Q8NFU1

Topology

Feature key	Position(s)	DescriptionActions	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, Membrane

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	54831
Open Targets More...OpenTargetsⁱ	ENSG00000039987
PharmGKBⁱ	PA162377481

Polymorphism and mutation 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

PaxDbⁱ	Q8NFU1
PeptideAtlas More...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 66 organ(s), highest expression level in transverse colon
CleanExⁱ	HS_BEST2
ExpressionAtlasⁱ	Q8NFU1 baseline and differential
Genevisibleⁱ	Q8NFU1 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA046229

HPAⁱ

HPA046229

Interactionⁱ

Protein-protein interaction databases

IntActⁱ	Q8NFU1, 16 interactors
STRINGⁱ	9606.ENSP00000042931

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q8NFU1
SMRⁱ	Q8NFU1
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the bestrophin family.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG3547 Eukaryota ENOG410XS3J LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000002997
HOGENOMⁱ	HOG000115678
HOVERGENⁱ	HBG044928
InParanoidⁱ	Q8NFU1
KEGG Orthology (KO) More...KOⁱ	K13879
OMAⁱ	LMCVVAG
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G06XO
PhylomeDBⁱ	Q8NFU1
TreeFamⁱ	TF315803

Family and domain databases

InterProⁱ	View protein in InterPro IPR000615 Bestrophin IPR021134 Bestrophin/UPF0187
PANTHERⁱ	PTHR10736 PTHR10736, 1 hit
Pfam protein domain database More...Pfamⁱ	View 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 all Align All

Q8NFU1-1 [UniParc]FASTA Add 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.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	H0YIH1	H0YIH1_HUMAN		Bestrophin Bestrophin	BEST2	78	Annotation score:

Sequence cautionⁱ

The sequence BAA90970 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS42506.1
NCBI Reference Sequences More...RefSeqⁱ	NP_060152.2, NM_017682.2 XP_005260020.1, XM_005259963.3
UniGeneⁱ	Hs.435611

Genome annotation databases

Ensemblⁱ	ENST00000042931; ENSP00000042931; ENSG00000039987 ENST00000549706; ENSP00000448310; ENSG00000039987 ENST00000553030; ENSP00000447203; ENSG00000039987
GeneIDⁱ	54831
KEGGⁱ	hsa:54831
UCSC genome browser More...UCSCⁱ	uc002mux.4 human

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q8NFU1	Vitelliform macular dystrophy 2-like 1 (Fragment)		synthetic construct		143	UniRef100_Q8NFU1

Protein	Similar proteins		Species	Score	Length	Source
Q8NFU1	Vitelliform macular dystrophy 2-like 1 (Fragment)		synthetic construct		143	UniRef90_Q8NFU1
Bestrophin		OTOGA		512
Bestrophin		PROCO		512
Bestrophin		Cebus capucinus imitator		509
Bestrophin		PANTR		509
+29

Protein	Similar proteins		Species	Score	Length	Source
Q8NFU1	Vitelliform macular dystrophy 2-like 1 (Fragment)		synthetic construct		143	UniRef50_Q8NFU1
Bestrophin		PROCO		512
Bestrophin		OTOGA		512
Bestrophin		PANTR		509
Bestrophin		RHIRO		509
+95

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
UniGeneⁱ	Hs.435611

3D structure databases

ProteinModelPortalⁱ	Q8NFU1
SMRⁱ	Q8NFU1
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

IntActⁱ	Q8NFU1, 16 interactors
STRINGⁱ	9606.ENSP00000042931

Protein family/group databases

TCDBⁱ	1.A.46.1.2 the anion channel-forming bestrophin (bestrophin) family

TCDBⁱ

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

PTM databases

iPTMnetⁱ	Q8NFU1
PhosphoSitePlusⁱ	Q8NFU1

Polymorphism and mutation databases

BioMutaⁱ	BEST2
DMDMⁱ	38503353

Proteomic databases

PaxDbⁱ	Q8NFU1
PeptideAtlasⁱ	Q8NFU1
PRIDEⁱ	Q8NFU1
ProteomicsDBⁱ	73356
TopDownProteomicsⁱ	Q8NFU1

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

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
EuPathDBⁱ	HostDB:ENSG00000039987.6
GeneCardsⁱ	BEST2
HGNCⁱ	HGNC:17107 BEST2
HPAⁱ	HPA046229
MIMⁱ	607335 gene
neXtProtⁱ	NX_Q8NFU1
OpenTargetsⁱ	ENSG00000039987
PharmGKBⁱ	PA162377481
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3547 Eukaryota ENOG410XS3J LUCA
GeneTreeⁱ	ENSGT00390000002997
HOGENOMⁱ	HOG000115678
HOVERGENⁱ	HBG044928
InParanoidⁱ	Q8NFU1
KOⁱ	K13879
OMAⁱ	LMCVVAG
OrthoDBⁱ	EOG091G06XO
PhylomeDBⁱ	Q8NFU1
TreeFamⁱ	TF315803

Enzyme and pathway databases

Reactomeⁱ	R-HSA-2672351 Stimuli-sensing channels

Reactomeⁱ

R-HSA-2672351 Stimuli-sensing channels

Miscellaneous databases

GeneWikiⁱ	BEST2
GenomeRNAiⁱ	54831
Protein Ontology More...PROⁱ	PR:Q8NFU1
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000039987 Expressed in 66 organ(s), highest expression level in transverse colon
CleanExⁱ	HS_BEST2
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...

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:	November 7, 2018
	This is version 131 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM

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UniProtKB - Q8NFU1 (BEST2_HUMAN)

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Bestrophin-2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Protein family/group databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

Plasma Membrane

Other locations

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ