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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

  1. chloride channel activity Source: UniProtKB-KW

GO - Biological processi

  1. chloride transmembrane transport Source: GOC
  2. membrane depolarization Source: HGNC
  3. sensory perception of smell Source: HGNC
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Calcium, Chloride

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.
REACT_268444. Orphan transporters.

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
ProteomesiUP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:17107. BEST2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2525CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei26 – 4621HelicalSequence AnalysisAdd
BLAST
Topological domaini47 – 7024ExtracellularSequence AnalysisAdd
BLAST
Transmembranei71 – 9121HelicalSequence AnalysisAdd
BLAST
Topological domaini92 – 17887CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei179 – 19921HelicalSequence AnalysisAdd
BLAST
Topological domaini200 – 22829ExtracellularSequence AnalysisAdd
BLAST
Intramembranei229 – 24921Sequence AnalysisAdd
BLAST
Topological domaini250 – 27021ExtracellularSequence AnalysisAdd
BLAST
Transmembranei271 – 29121HelicalSequence AnalysisAdd
BLAST
Topological domaini292 – 509218CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. chloride channel complex Source: BHF-UCL
  2. cilium Source: HGNC
  3. plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162377481.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 509509Bestrophin-2PRO_0000143118Add
BLAST

Proteomic databases

PaxDbiQ8NFU1.
PRIDEiQ8NFU1.

PTM databases

PhosphoSiteiQ8NFU1.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ8NFU1.
CleanExiHS_BEST2.
GenevestigatoriQ8NFU1.

Organism-specific databases

HPAiHPA046229.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000042931.

Structurei

3D structure databases

ProteinModelPortaliQ8NFU1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the bestrophin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG315004.
GeneTreeiENSGT00390000002997.
HOGENOMiHOG000115678.
HOVERGENiHBG044928.
InParanoidiQ8NFU1.
KOiK13879.
OMAiYRFVLTE.
OrthoDBiEOG7N0C43.
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:September 30, 2002 - v1
Checksum:iE557B975BFDC692A
GO

Sequence cautioni

The sequence BAA90970.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti388 – 3881E → G in AAR99655 (PubMed:12907679).Curated
Sequence conflicti388 – 3881E → G in BAA90970 (PubMed:14702039).Curated

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_005259963.1.
UniGeneiHs.435611.

Genome annotation databases

EnsembliENST00000042931; ENSP00000042931; ENSG00000039987.
ENST00000549706; ENSP00000448310; ENSG00000039987.
ENST00000553030; ENSP00000447203; ENSG00000039987.
GeneIDi54831.
KEGGihsa:54831.
UCSCiuc002mux.3. human.

Polymorphism databases

DMDMi38503353.

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_005259963.1.
UniGeneiHs.435611.

3D structure databases

ProteinModelPortaliQ8NFU1.
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

PhosphoSiteiQ8NFU1.

Polymorphism databases

DMDMi38503353.

Proteomic databases

PaxDbiQ8NFU1.
PRIDEiQ8NFU1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000042931; ENSP00000042931; ENSG00000039987.
ENST00000549706; ENSP00000448310; ENSG00000039987.
ENST00000553030; ENSP00000447203; ENSG00000039987.
GeneIDi54831.
KEGGihsa:54831.
UCSCiuc002mux.3. human.

Organism-specific databases

CTDi54831.
GeneCardsiGC19P012864.
HGNCiHGNC:17107. BEST2.
HPAiHPA046229.
MIMi607335. gene.
neXtProtiNX_Q8NFU1.
PharmGKBiPA162377481.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG315004.
GeneTreeiENSGT00390000002997.
HOGENOMiHOG000115678.
HOVERGENiHBG044928.
InParanoidiQ8NFU1.
KOiK13879.
OMAiYRFVLTE.
OrthoDBiEOG7N0C43.
PhylomeDBiQ8NFU1.
TreeFamiTF315803.

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.
REACT_268444. Orphan transporters.

Miscellaneous databases

GeneWikiiBEST2.
GenomeRNAii54831.
NextBioi57612.
PROiQ8NFU1.
SOURCEiSearch...

Gene expression databases

BgeeiQ8NFU1.
CleanExiHS_BEST2.
GenevestigatoriQ8NFU1.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. "Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family."
    Stoehr H., Marquardt A., Nanda I., Schmid M., Weber B.H.F.
    Eur. J. Hum. Genet. 10:281-284(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  2. "Structure-function analysis of the bestrophin family of anion channels."
    Tsunenari T., Sun H., Williams J., Cahill H., Smallwood P., Yau K.-W., Nathans J.
    J. Biol. Chem. 278:41114-41125(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 23-509.
    Tissue: Colon.
  4. "The vitelliform macular dystrophy protein defines a new family of chloride channels."
    Sun H., Tsunenari T., Yau K.-W., Nathans J.
    Proc. Natl. Acad. Sci. U.S.A. 99:4008-4013(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  5. "Bestrophin Cl- channels are highly permeable to HCO3-."
    Qu Z., Hartzell H.C.
    Am. J. Physiol. 294:C1371-C1377(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.

Entry informationi

Entry nameiBEST2_HUMAN
AccessioniPrimary (citable) accession number: Q8NFU1
Secondary accession number(s): Q53YQ8, Q9NXP0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 20, 2003
Last sequence update: September 30, 2002
Last modified: March 31, 2015
This is version 108 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

External Data

Dasty 3

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 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.