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Q8NFU1

- BEST2_HUMAN

UniProt

Q8NFU1 - BEST2_HUMAN

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Protein
Bestrophin-2
Gene
BEST2, VMD2L1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 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.

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2525Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei26 – 4621Helical; Reviewed prediction
Add
BLAST
Topological domaini47 – 7024Extracellular Reviewed prediction
Add
BLAST
Transmembranei71 – 9121Helical; Reviewed prediction
Add
BLAST
Topological domaini92 – 17887Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei179 – 19921Helical; Reviewed prediction
Add
BLAST
Topological domaini200 – 22829Extracellular Reviewed prediction
Add
BLAST
Intramembranei229 – 24921 Reviewed prediction
Add
BLAST
Topological domaini250 – 27021Extracellular Reviewed prediction
Add
BLAST
Transmembranei271 – 29121Helical; Reviewed prediction
Add
BLAST
Topological domaini292 – 509218Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. chloride channel complex Source: UniProtKB-KW
  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-2
PRO_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.

Family & Domainsi

Sequence similaritiesi

Belongs to the bestrophin family.

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.

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti388 – 3881E → G in AAR99655. 1 Publication
Sequence conflicti388 – 3881E → G in BAA90970. 1 Publication

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

« 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(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: September 3, 2014
This is version 102 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

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