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Protein

Bestrophin-4

Gene

BEST4

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

Functioni

Forms calcium-sensitive chloride channels. Permeable to bicarbonate.2 Publications

GO - Molecular functioni

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-2672351 Stimuli-sensing channels

Names & Taxonomyi

Protein namesi
Recommended name:
Bestrophin-4
Alternative name(s):
Vitelliform macular dystrophy 2-like protein 2
Gene namesi
Name:BEST4
Synonyms:VMD2L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000142959.4
HGNCiHGNC:17106 BEST4
MIMi607336 gene
neXtProtiNX_Q8NFU0

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 – 285ExtracellularSequence analysisAdd BLAST36
Transmembranei286 – 306HelicalSequence analysisAdd BLAST21
Topological domaini307 – 473CytoplasmicSequence analysisAdd BLAST167

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000142959
PharmGKBiPA162377520

Polymorphism and mutation databases

BioMutaiBEST4
DMDMi38503352

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001431201 – 473Bestrophin-4Add BLAST473

Proteomic databases

PaxDbiQ8NFU0
PeptideAtlasiQ8NFU0
PRIDEiQ8NFU0

PTM databases

iPTMnetiQ8NFU0
PhosphoSitePlusiQ8NFU0

Expressioni

Tissue specificityi

Predominantly found in colon and the weakly in fetal brain, spinal cord, retina, lung, trachea, testis and placenta.1 Publication

Gene expression databases

BgeeiENSG00000142959
CleanExiHS_BEST4
GenevisibleiQ8NFU0 HS

Organism-specific databases

HPAiHPA058564

Interactioni

Protein-protein interaction databases

IntActiQ8NFU0, 1 interactor
MINTiQ8NFU0
STRINGi9606.ENSP00000361281

Structurei

3D structure databases

ProteinModelPortaliQ8NFU0
SMRiQ8NFU0
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
InParanoidiQ8NFU0
KOiK13881
OMAiAEKDLYW
OrthoDBiEOG091G06XO
PhylomeDBiQ8NFU0
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

Sequencei

Sequence statusi: Complete.

Q8NFU0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTVSYTLKVA EARFGGFSGL LLRWRGSIYK LLYKEFLLFG ALYAVLSITY
60 70 80 90 100
RLLLTQEQRY VYAQVARYCN RSADLIPLSF VLGFYVTLVV NRWWSQYTSI
110 120 130 140 150
PLPDQLMCVI SASVHGVDQR GRLLRRTLIR YANLASVLVL RSVSTRVLKR
160 170 180 190 200
FPTMEHVVDA GFMSQEERKK FESLKSDFNK YWVPCVWFTN LAAQARRDGR
210 220 230 240 250
IRDDIALCLL LEELNKYRAK CSMLFHYDWI SIPLVYTQVV TIAVYSFFAL
260 270 280 290 300
SLVGRQFVEP EAGAAKPQKL LKPGQEPAPA LGDPDMYVPL TTLLQFFFYA
310 320 330 340 350
GWLKVAEQII NPFGEDDDDF ETNQLIDRNL QVSLLSVDEM YQNLPPAEKD
360 370 380 390 400
QYWDEDQPQP PYTVATAAES LRPSFLGSTF NLRMSDDPEQ SLQVEASPGS
410 420 430 440 450
GRPAPAAQTP LLGRFLGVGA PSPAISLRNF GRVRGTPRPP HLLRFRAEEG
460 470
GDPEAAARIE EESAESGDEA LEP
Length:473
Mass (Da):53,497
Last modified:October 1, 2002 - v1
Checksum:iA8538303EE258D65
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04841162Y → C. Corresponds to variant dbSNP:rs16832245Ensembl.1
Natural variantiVAR_048412217Y → S. Corresponds to variant dbSNP:rs16832242Ensembl.1
Natural variantiVAR_048413331Q → E. Corresponds to variant dbSNP:rs16832241Ensembl.1
Natural variantiVAR_048414402R → L. Corresponds to variant dbSNP:rs16832239Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF440757 mRNA Translation: AAM76996.1
AY515707 mRNA Translation: AAR99657.1
AL592166 Genomic DNA No translation available.
BC101823 mRNA Translation: AAI01824.1
CCDSiCCDS514.1
RefSeqiNP_695006.1, NM_153274.2
XP_016856511.1, XM_017001022.1
XP_016856512.1, XM_017001023.1
UniGeneiHs.302513

Genome annotation databases

EnsembliENST00000372207; ENSP00000361281; ENSG00000142959
GeneIDi266675
KEGGihsa:266675
UCSCiuc001cmm.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBEST4_HUMAN
AccessioniPrimary (citable) accession number: Q8NFU0
Secondary accession number(s): Q5JR93
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 21, 2003
Last sequence update: October 1, 2002
Last modified: February 28, 2018
This is version 122 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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