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Protein

Otopetrin-2

Gene

OTOP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Otopetrin-2
Gene namesi
Name:OTOP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:19657. OTOP2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei30 – 5021HelicalSequence analysisAdd
BLAST
Transmembranei62 – 8221HelicalSequence analysisAdd
BLAST
Transmembranei100 – 12021HelicalSequence analysisAdd
BLAST
Transmembranei137 – 15721HelicalSequence analysisAdd
BLAST
Transmembranei241 – 26121HelicalSequence analysisAdd
BLAST
Transmembranei289 – 30921HelicalSequence analysisAdd
BLAST
Transmembranei324 – 34421HelicalSequence analysisAdd
BLAST
Transmembranei371 – 39121HelicalSequence analysisAdd
BLAST
Transmembranei495 – 51521HelicalSequence analysisAdd
BLAST
Transmembranei527 – 54721HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134930692.

Polymorphism and mutation databases

BioMutaiOTOP2.
DMDMi296439281.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 562562Otopetrin-2PRO_0000313820Add
BLAST

Proteomic databases

PaxDbiQ7RTS6.
PRIDEiQ7RTS6.

PTM databases

iPTMnetiQ7RTS6.
PhosphoSiteiQ7RTS6.

Expressioni

Gene expression databases

BgeeiQ7RTS6.
CleanExiHS_OTOP2.

Organism-specific databases

HPAiHPA024524.
HPA053090.

Interactioni

Protein-protein interaction databases

IntActiQ7RTS6. 1 interaction.
MINTiMINT-6489301.
STRINGi9606.ENSP00000332528.

Structurei

3D structure databases

ProteinModelPortaliQ7RTS6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the otopetrin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4740. Eukaryota.
ENOG410XVS5. LUCA.
GeneTreeiENSGT00530000063198.
HOGENOMiHOG000090257.
HOVERGENiHBG056633.
InParanoidiQ7RTS6.
OMAiTHSSELA.
OrthoDBiEOG72C4ZX.
PhylomeDBiQ7RTS6.
TreeFamiTF313428.

Family and domain databases

InterProiIPR004878. Otopetrin.
[Graphical view]
PANTHERiPTHR21522. PTHR21522. 2 hits.
PfamiPF03189. Otopetrin. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q7RTS6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSEELAQGPK ESPPAPRAGP REVWKKGGRL LSVLLAVNVL LLACTLISGG
60 70 80 90 100
AFNKVAVYDT DVFALLTAMM LLATLWILFY LLRTVRCPCA VPYRDAHAGP
110 120 130 140 150
IWLRGGLVLF GICTLIMDVF KTGYYSSFFE CQSAIKILHP LIQAVFVIIQ
160 170 180 190 200
TYFLWVSAKD CVHVHLDLTW CGLMFTLTTN LAIWMAAVVD ESVHQSHSYS
210 220 230 240 250
SSHSNASHAR LISDQHADNP VGGDSCLCST AVCQIFQQGY FYLYPFNIEY
260 270 280 290 300
SLFASTMLYV MWKNVGRFLA STPGHSHTPT PVSLFRETFF AGPVLGLLLF
310 320 330 340 350
VVGLAVFIIY EVQVSGDGSR TRQALVIYYS FNIVCLGLTT LVSLSGSIIY
360 370 380 390 400
RFDRRAMDHH KNPTRTLDVA LLMGAALGQY AISYYSIVAV VAGTPQDLLA
410 420 430 440 450
GLNLTHALLM IAQHTFQNMF IIESLHRGPP GAEPHSTHPK EPCQDLTFTN
460 470 480 490 500
LDALHTLSAC PPNPGLVSPS PSDQREAVAI VSTPRSQWRR QCLKDISLFL
510 520 530 540 550
LLCNVILWIM PAFGARPHFS NTVEVDFYGY SLWAVIVNIC LPFGIFYRMH
560
AVSSLLEVYV LS
Length:562
Mass (Da):62,236
Last modified:May 18, 2010 - v3
Checksum:i07B46C4A06C655D3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti392 – 3921A → V in a colorectal cancer sample; somatic mutation. 1 Publication
Corresponds to variant rs148548570 [ dbSNP | Ensembl ].
VAR_037760
Natural varianti465 – 4651G → W.
Corresponds to variant rs6501741 [ dbSNP | Ensembl ].
VAR_037761

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC068874 Genomic DNA. No translation available.
AC087651 Genomic DNA. No translation available.
BK000567 mRNA. Translation: DAA00895.1.
CCDSiCCDS11708.1.
RefSeqiNP_835454.1. NM_178160.2.
XP_011523781.1. XM_011525479.1.
UniGeneiHs.352515.

Genome annotation databases

EnsembliENST00000331427; ENSP00000332528; ENSG00000183034.
ENST00000580223; ENSP00000463837; ENSG00000183034.
GeneIDi92736.
KEGGihsa:92736.
UCSCiuc010wrp.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC068874 Genomic DNA. No translation available.
AC087651 Genomic DNA. No translation available.
BK000567 mRNA. Translation: DAA00895.1.
CCDSiCCDS11708.1.
RefSeqiNP_835454.1. NM_178160.2.
XP_011523781.1. XM_011525479.1.
UniGeneiHs.352515.

3D structure databases

ProteinModelPortaliQ7RTS6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ7RTS6. 1 interaction.
MINTiMINT-6489301.
STRINGi9606.ENSP00000332528.

PTM databases

iPTMnetiQ7RTS6.
PhosphoSiteiQ7RTS6.

Polymorphism and mutation databases

BioMutaiOTOP2.
DMDMi296439281.

Proteomic databases

PaxDbiQ7RTS6.
PRIDEiQ7RTS6.

Protocols and materials databases

DNASUi92736.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331427; ENSP00000332528; ENSG00000183034.
ENST00000580223; ENSP00000463837; ENSG00000183034.
GeneIDi92736.
KEGGihsa:92736.
UCSCiuc010wrp.2. human.

Organism-specific databases

CTDi92736.
GeneCardsiOTOP2.
H-InvDBHIX0021749.
HGNCiHGNC:19657. OTOP2.
HPAiHPA024524.
HPA053090.
MIMi607827. gene.
neXtProtiNX_Q7RTS6.
PharmGKBiPA134930692.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4740. Eukaryota.
ENOG410XVS5. LUCA.
GeneTreeiENSGT00530000063198.
HOGENOMiHOG000090257.
HOVERGENiHBG056633.
InParanoidiQ7RTS6.
OMAiTHSSELA.
OrthoDBiEOG72C4ZX.
PhylomeDBiQ7RTS6.
TreeFamiTF313428.

Miscellaneous databases

GenomeRNAii92736.
PROiQ7RTS6.
SOURCEiSearch...

Gene expression databases

BgeeiQ7RTS6.
CleanExiHS_OTOP2.

Family and domain databases

InterProiIPR004878. Otopetrin.
[Graphical view]
PANTHERiPTHR21522. PTHR21522. 2 hits.
PfamiPF03189. Otopetrin. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1."
    Hurle B., Ignatova E., Massironi S.M., Mashimo T., Rios X., Thalmann I., Thalmann R., Ornitz D.M.
    Hum. Mol. Genet. 12:777-789(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  3. Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-392.

Entry informationi

Entry nameiOTOP2_HUMAN
AccessioniPrimary (citable) accession number: Q7RTS6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: July 6, 2016
This is version 78 of the entry and version 3 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 17
    Human chromosome 17: 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

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 one 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.