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Q8NFU1 (BEST2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Bestrophin-2
Alternative name(s):
Vitelliform macular dystrophy 2-like protein 1
Gene names
Name:BEST2
Synonyms:VMD2L1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length509 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Forms calcium-sensitive chloride channels. Permeable to bicarbonate. Ref.2 Ref.4 Ref.5

Subcellular location

Cell membrane; Multi-pass membrane protein.

Tissue specificity

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

Sequence similarities

Belongs to the bestrophin family.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 509509Bestrophin-2
PRO_0000143118

Regions

Topological domain1 – 2525Cytoplasmic Potential
Transmembrane26 – 4621Helical; Potential
Topological domain47 – 7024Extracellular Potential
Transmembrane71 – 9121Helical; Potential
Topological domain92 – 17887Cytoplasmic Potential
Transmembrane179 – 19921Helical; Potential
Topological domain200 – 22829Extracellular Potential
Intramembrane229 – 24921 Potential
Topological domain250 – 27021Extracellular Potential
Transmembrane271 – 29121Helical; Potential
Topological domain292 – 509218Cytoplasmic Potential

Experimental info

Sequence conflict3881E → G in AAR99655. Ref.2
Sequence conflict3881E → G in BAA90970. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q8NFU1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: E557B975BFDC692A

FASTA50957,139
        10         20         30         40         50         60 
MTVTYTARVA NARFGGFSQL LLLWRGSIYK LLWRELLCFL GFYMALSAAY RFVLTEGQKR 

        70         80         90        100        110        120 
YFEKLVIYCD QYASLIPVSF VLGFYVTLVV NRWWSQYLCM PLPDALMCVV AGTVHGRDDR 

       130        140        150        160        170        180 
GRLYRRTLMR YAGLSAVLIL RSVSTAVFKR FPTIDHVVEA GFMTREERKK FENLNSSYNK 

       190        200        210        220        230        240 
YWVPCVWFSN LAAQARREGR IRDNSALKLL LEELNVFRGK CGMLFHYDWI SVPLVYTQVV 

       250        260        270        280        290        300 
TIALYSYFLA CLIGRQFLDP AQGYKDHDLD LCVPIFTLLQ FFFYAGWLKV AEQLINPFGE 

       310        320        330        340        350        360 
DDDDFETNFL IDRNFQVSML AVDEMYDDLA VLEKDLYWDA AEARAPYTAA TVFQLRQPSF 

       370        380        390        400        410        420 
QGSTFDITLA KEDMQFQRLD GLDGPMGEAP GDFLQRLLPA GAGMVAGGPL GRRLSFLLRK 

       430        440        450        460        470        480 
NSCVSEASTG ASCSCAVVPE GAAPECSCGD PLLDPGLPEP EAPPPAGPEP LTLIPGPVEP 

       490        500 
FSIVTMPGPR GPAPPWLPSP IGEEEENLA 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF440756 mRNA. Translation: AAM76995.1.
AY515705 mRNA. Translation: AAR99655.1.
AK000139 mRNA. Translation: BAA90970.1. Different initiation.
CCDSCCDS42506.1.
RefSeqNP_060152.2. NM_017682.2.
XP_005260020.1. XM_005259963.1.
UniGeneHs.435611.

3D structure databases

ProteinModelPortalQ8NFU1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000042931.

Protein family/group databases

TCDB1.A.46.1.2. the anion channel-forming bestrophin (bestrophin) family.

PTM databases

PhosphoSiteQ8NFU1.

Polymorphism databases

DMDM38503353.

Proteomic databases

PaxDbQ8NFU1.
PRIDEQ8NFU1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000042931; ENSP00000042931; ENSG00000039987.
ENST00000549706; ENSP00000448310; ENSG00000039987.
ENST00000553030; ENSP00000447203; ENSG00000039987.
GeneID54831.
KEGGhsa:54831.
UCSCuc002mux.3. human.

Organism-specific databases

CTD54831.
GeneCardsGC19P012864.
HGNCHGNC:17107. BEST2.
HPAHPA046229.
MIM607335. gene.
neXtProtNX_Q8NFU1.
PharmGKBPA162377481.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315004.
HOGENOMHOG000115678.
HOVERGENHBG044928.
InParanoidQ8NFU1.
KOK13879.
OMALYWDAAE.
OrthoDBEOG7N0C43.
PhylomeDBQ8NFU1.
TreeFamTF315803.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeQ8NFU1.
CleanExHS_BEST2.
GenevestigatorQ8NFU1.

Family and domain databases

InterProIPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view]
PANTHERPTHR10736. PTHR10736. 1 hit.
PfamPF01062. Bestrophin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiBEST2.
GenomeRNAi54831.
NextBio57612.
PROQ8NFU1.
SOURCESearch...

Entry information

Entry nameBEST2_HUMAN
AccessionPrimary (citable) accession number: Q8NFU1
Secondary accession number(s): Q53YQ8, Q9NXP0
Entry history
Integrated into UniProtKB/Swiss-Prot: November 21, 2003
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant 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