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Q8NFU1

- BEST2_HUMAN

UniProt

Q8NFU1 - BEST2_HUMAN

Protein

Bestrophin-2

Gene

BEST2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    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

    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.

    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: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:17107. BEST2.

    Subcellular locationi

    GO - Cellular componenti

    1. chloride channel complex Source: UniProtKB-KW
    2. cilium Source: HGNC
    3. plasma membrane Source: UniProtKB-SubCell

    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...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2525CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini47 – 7024ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini92 – 17887CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini200 – 22829ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini250 – 27021ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini292 – 509218CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei229 – 24921Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei26 – 4621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei71 – 9121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei179 – 19921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei271 – 29121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the bestrophin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG315004.
    HOGENOMiHOG000115678.
    HOVERGENiHBG044928.
    InParanoidiQ8NFU1.
    KOiK13879.
    OMAiLYWDAAE.
    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

    MTVTYTARVA NARFGGFSQL LLLWRGSIYK LLWRELLCFL GFYMALSAAY    50
    RFVLTEGQKR YFEKLVIYCD QYASLIPVSF VLGFYVTLVV NRWWSQYLCM 100
    PLPDALMCVV AGTVHGRDDR GRLYRRTLMR YAGLSAVLIL RSVSTAVFKR 150
    FPTIDHVVEA GFMTREERKK FENLNSSYNK YWVPCVWFSN LAAQARREGR 200
    IRDNSALKLL LEELNVFRGK CGMLFHYDWI SVPLVYTQVV TIALYSYFLA 250
    CLIGRQFLDP AQGYKDHDLD LCVPIFTLLQ FFFYAGWLKV AEQLINPFGE 300
    DDDDFETNFL IDRNFQVSML AVDEMYDDLA VLEKDLYWDA AEARAPYTAA 350
    TVFQLRQPSF QGSTFDITLA KEDMQFQRLD GLDGPMGEAP GDFLQRLLPA 400
    GAGMVAGGPL GRRLSFLLRK NSCVSEASTG ASCSCAVVPE GAAPECSCGD 450
    PLLDPGLPEP EAPPPAGPEP LTLIPGPVEP FSIVTMPGPR GPAPPWLPSP 500
    IGEEEENLA 509
    Length:509
    Mass (Da):57,139
    Last modified:October 1, 2002 - v1
    Checksum:iE557B975BFDC692A
    GO

    Sequence cautioni

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

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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_005259963.1.
    UniGenei Hs.435611.

    3D structure databases

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

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000042931.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei Q8NFU1.

    Polymorphism databases

    DMDMi 38503353.

    Proteomic databases

    PaxDbi Q8NFU1.
    PRIDEi Q8NFU1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000042931 ; ENSP00000042931 ; ENSG00000039987 .
    ENST00000549706 ; ENSP00000448310 ; ENSG00000039987 .
    ENST00000553030 ; ENSP00000447203 ; ENSG00000039987 .
    GeneIDi 54831.
    KEGGi hsa:54831.
    UCSCi uc002mux.3. human.

    Organism-specific databases

    CTDi 54831.
    GeneCardsi GC19P012864.
    HGNCi HGNC:17107. BEST2.
    HPAi HPA046229.
    MIMi 607335. gene.
    neXtProti NX_Q8NFU1.
    PharmGKBi PA162377481.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG315004.
    HOGENOMi HOG000115678.
    HOVERGENi HBG044928.
    InParanoidi Q8NFU1.
    KOi K13879.
    OMAi LYWDAAE.
    OrthoDBi EOG7N0C43.
    PhylomeDBi Q8NFU1.
    TreeFami TF315803.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GeneWikii BEST2.
    GenomeRNAii 54831.
    NextBioi 57612.
    PROi Q8NFU1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8NFU1.
    CleanExi HS_BEST2.
    Genevestigatori Q8NFU1.

    Family and domain databases

    InterProi IPR000615. Bestrophin.
    IPR021134. Bestrophin/UPF0187.
    [Graphical view ]
    PANTHERi PTHR10736. PTHR10736. 1 hit.
    Pfami PF01062. Bestrophin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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(2002) [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(2003) [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(2004) [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(2002) [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(2008) [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 21, 2003
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 103 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