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Q9UBL9

- P2RX2_HUMAN

UniProt

Q9UBL9 - P2RX2_HUMAN

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Protein
P2X purinoceptor 2
Gene
P2RX2, P2X2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Ion channel gated by extracellular ATP involved in a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis. In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K+ recycling. Mediates synaptic transmission between neurons and from neurons to smooth muscle.1 Publication

GO - Molecular functioni

  1. ATP binding Source: BHF-UCL
  2. cadmium ion binding Source: Ensembl
  3. cobalt ion binding Source: Ensembl
  4. copper ion binding Source: Ensembl
  5. drug binding Source: Ensembl
  6. extracellular ATP-gated cation channel activity Source: UniProtKB
  7. identical protein binding Source: BHF-UCL
  8. ligand-gated ion channel activity Source: ProtInc
  9. mercury ion binding Source: Ensembl
  10. nickel cation binding Source: Ensembl
  11. phosphatidylinositol binding Source: Ensembl
  12. purinergic nucleotide receptor activity Source: BHF-UCL
  13. zinc ion binding Source: Ensembl

GO - Biological processi

  1. behavioral response to pain Source: Ensembl
  2. cation transport Source: GOC
  3. detection of hypoxic conditions in blood by carotid body chemoreceptor signaling Source: Ensembl
  4. ion transmembrane transport Source: GOC
  5. neuromuscular junction development Source: Ensembl
  6. neuromuscular synaptic transmission Source: Ensembl
  7. neuronal action potential Source: Ensembl
  8. peristalsis Source: Ensembl
  9. positive regulation of calcium ion transport into cytosol Source: BHF-UCL
  10. positive regulation of calcium-mediated signaling Source: BHF-UCL
  11. protein heterooligomerization Source: Ensembl
  12. protein homooligomerization Source: BHF-UCL
  13. purinergic nucleotide receptor signaling pathway Source: GOC
  14. response to ATP Source: Ensembl
  15. response to carbohydrate Source: Ensembl
  16. response to hypoxia Source: Ensembl
  17. sensory perception of sound Source: UniProtKB
  18. sensory perception of taste Source: Ensembl
  19. skeletal muscle fiber development Source: Ensembl
  20. urinary bladder smooth muscle contraction Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Hearing, Ion transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
P2X purinoceptor 2
Short name:
P2X2
Alternative name(s):
ATP receptor
Purinergic receptor
Gene namesi
Name:P2RX2
Synonyms:P2X2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:15459. P2RX2.

Subcellular locationi

Cell membrane; Multi-pass membrane protein
Note: Localizes to the apical membranes of hair cells in the organ of Corti.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 4242Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei43 – 6321Helical; Name=1; Reviewed prediction
Add
BLAST
Topological domaini64 – 337274Extracellular Reviewed prediction
Add
BLAST
Transmembranei338 – 35821Helical; Name=2; Reviewed prediction
Add
BLAST
Topological domaini359 – 471113Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: UniProtKB
  2. cell surface Source: Ensembl
  3. dendritic spine Source: Ensembl
  4. integral component of nuclear inner membrane Source: RefGenome
  5. integral component of plasma membrane Source: UniProtKB
  6. neuronal cell body Source: Ensembl
  7. postsynaptic density Source: Ensembl
  8. presynaptic membrane Source: Ensembl
  9. receptor complex Source: MGI
  10. terminal bouton Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 41 (DFNA41) [MIM:608224]: A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601V → L in DFNA41; found in heterozygous status in patients; abolished ATP-stimulated permeability. 1 Publication
VAR_070687
Natural varianti353 – 3531G → R in DFNA41. 1 Publication
VAR_070688

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

MIMi608224. phenotype.
Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKBiPA32862.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 471471P2X purinoceptor 2
PRO_0000161549Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi21 ↔ 439 By similarity
Disulfide bondi125 ↔ 176 By similarity
Glycosylationi133 – 1331N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi136 ↔ 159 By similarity
Disulfide bondi142 ↔ 170 By similarity
Glycosylationi194 – 1941N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi226 ↔ 236 By similarity
Disulfide bondi270 ↔ 279 By similarity
Glycosylationi310 – 3101N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9UBL9.
PRIDEiQ9UBL9.

PTM databases

PhosphoSiteiQ9UBL9.

Expressioni

Gene expression databases

BgeeiQ9UBL9.
GenevestigatoriQ9UBL9.

Organism-specific databases

HPAiHPA014025.

Interactioni

Subunit structurei

Homotrimer and heterotrimer; functional P2XRs are organized as homomeric and heteromeric trimers.

Structurei

3D structure databases

ProteinModelPortaliQ9UBL9.
SMRiQ9UBL9. Positions 42-364.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni320 – 33314Pore-forming motif Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the P2X receptor family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG68669.
HOVERGENiHBG053086.
KOiK05216.
OMAiLYFVWYV.
PhylomeDBiQ9UBL9.
TreeFamiTF328633.

Family and domain databases

Gene3Di2.60.490.10. 1 hit.
InterProiIPR003045. P2X2_purnocptor.
IPR027309. P2X_extracellular_dom.
IPR001429. P2X_purnocptor.
[Graphical view]
PANTHERiPTHR10125. PTHR10125. 1 hit.
PTHR10125:SF4. PTHR10125:SF4. 1 hit.
PfamiPF00864. P2X_receptor. 1 hit.
[Graphical view]
PRINTSiPR01309. P2X2RECEPTOR.
PR01307. P2XRECEPTOR.
TIGRFAMsiTIGR00863. P2X. 1 hit.
PROSITEiPS01212. P2X_RECEPTOR. 1 hit.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. Align

Isoform A (identifier: Q9UBL9-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MAAAQPKYPA GATARRLARG CWSALWDYET PKVIVVRNRR LGVLYRAVQL    50
LILLYFVWYV FIVQKSYQES ETGPESSIIT KVKGITTSEH KVWDVEEYVK 100
PPEGGSVFSI ITRVEATHSQ TQGTCPESIR VHNATCLSDA DCVAGELDML 150
GNGLRTGRCV PYYQGPSKTC EVFGWCPVED GASVSQFLGT MAPNFTILIK 200
NSIHYPKFHF SKGNIADRTD GYLKRCTFHE ASDLYCPIFK LGFIVEKAGE 250
SFTELAHKGG VIGVIINWDC DLDLPASECN PKYSFRRLDP KHVPASSGYN 300
FRFAKYYKIN GTTTRTLIKA YGIRIDVIVH GQAGKFSLIP TIINLATALT 350
SVGVGSFLCD WILLTFMNKN KVYSHKKFDK VCTPSHPSGS WPVTLARVLG 400
QAPPEPGHRS EDQHPSPPSG QEGQQGAECG PAFPPLRPCP ISAPSEQMVD 450
TPASEPAQAS TPTDPKGLAQ L 471
Length:471
Mass (Da):51,754
Last modified:May 1, 2000 - v1
Checksum:i84CD61DA136EF420
GO
Isoform B (identifier: Q9UBL9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     381-447: Missing.

Show »
Length:404
Mass (Da):44,842
Checksum:i695AC6C1655DB952
GO
Isoform C (identifier: Q9UBL9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     104-127: Missing.

Show »
Length:447
Mass (Da):49,266
Checksum:iBAF5513A27314D1D
GO
Isoform D (identifier: Q9UBL9-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     354-354: V → VVRNPLWGPSGCGGSTRPLHTGLCWPQ

Show »
Length:497
Mass (Da):54,513
Checksum:iFC4007F5BDD46E0E
GO
Isoform H (identifier: Q9UBL9-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     36-127: Missing.

Show »
Length:379
Mass (Da):41,254
Checksum:i8D1AA9A069D7F008
GO
Isoform I (identifier: Q9UBL9-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     38-152: NRRLGVLYRA...VAGELDMLGN → IHRAEKLPGE...GRGGVREAPR

Show »
Length:399
Mass (Da):43,726
Checksum:i8B55562C9BAEAE5E
GO
Isoform K (identifier: Q9UBL9-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     104-127: Missing.
     154-258: LRTGRCVPYY...GESFTELAHK → ALQDLRGVRL...ELHRARTQGR
     381-447: Missing.

Note: No experimental confirmation available.

Show »
Length:370
Mass (Da):41,370
Checksum:i36FC1F15D45624DC
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601V → L in DFNA41; found in heterozygous status in patients; abolished ATP-stimulated permeability. 1 Publication
VAR_070687
Natural varianti353 – 3531G → R in DFNA41. 1 Publication
VAR_070688

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei36 – 12792Missing in isoform H.
VSP_004495Add
BLAST
Alternative sequencei38 – 152115NRRLG…DMLGN → IHRAEKLPGERDGPRELHHH QGQGDHHVRAQSVGRGGVRE APR in isoform I.
VSP_004496Add
BLAST
Alternative sequencei104 – 12724Missing in isoform C and isoform K.
VSP_004497Add
BLAST
Alternative sequencei154 – 258105LRTGR…ELAHK → ALQDLRGVRLVPGGRWGLCQ PISGYDGPKFHHPHQEQHPL PQIPLLQGQHRRPHRRVPEA LHVPRGLRPLLPHLQAGLYR GEGWGELHRARTQGR in isoform K.
VSP_014135Add
BLAST
Alternative sequencei354 – 3541V → VVRNPLWGPSGCGGSTRPLH TGLCWPQ in isoform D.
VSP_004498
Alternative sequencei381 – 44767Missing in isoform B and isoform K.
VSP_004499Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1 – 1414MAAAQ…AGATA → MV in AAD42947. 1 Publication
Add
BLAST
Sequence conflicti1 – 1414MAAAQ…AGATA → MV in AAD42948. 1 Publication
Add
BLAST
Sequence conflicti48 – 481V → A in AAQ54329. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF190822 mRNA. Translation: AAF19170.1.
AF190823 mRNA. Translation: AAF19171.1.
AF190824 mRNA. Translation: AAF19172.1.
AF190825 mRNA. Translation: AAF19173.1.
AF190826 Genomic DNA. Translation: AAF19174.1.
AF109387 mRNA. Translation: AAD42947.1.
AF109388 mRNA. Translation: AAD42948.1.
AF260426 mRNA. Translation: AAF74201.1.
AF260427 mRNA. Translation: AAF74202.1.
AF260428 mRNA. Translation: AAF74203.1.
AF260429 mRNA. Translation: AAF74204.1.
AY346374 mRNA. Translation: AAQ54329.1.
AC131212 Genomic DNA. No translation available.
CCDSiCCDS31930.1. [Q9UBL9-4]
CCDS31931.1. [Q9UBL9-1]
CCDS31932.1. [Q9UBL9-2]
CCDS31933.1. [Q9UBL9-3]
CCDS31934.1. [Q9UBL9-6]
CCDS31935.1. [Q9UBL9-5]
CCDS61286.1. [Q9UBL9-7]
RefSeqiNP_001269093.1. NM_001282164.1. [Q9UBL9-7]
NP_001269094.1. NM_001282165.1.
NP_036358.2. NM_012226.4. [Q9UBL9-6]
NP_057402.1. NM_016318.3. [Q9UBL9-3]
NP_733782.1. NM_170682.3. [Q9UBL9-1]
NP_733783.1. NM_170683.3. [Q9UBL9-4]
NP_777361.1. NM_174872.2. [Q9UBL9-5]
NP_777362.1. NM_174873.2. [Q9UBL9-2]
UniGeneiHs.258580.

Genome annotation databases

EnsembliENST00000343948; ENSP00000343339; ENSG00000187848. [Q9UBL9-4]
ENST00000348800; ENSP00000345095; ENSG00000187848. [Q9UBL9-2]
ENST00000350048; ENSP00000343904; ENSG00000187848. [Q9UBL9-3]
ENST00000351222; ENSP00000344502; ENSG00000187848. [Q9UBL9-5]
ENST00000352418; ENSP00000341419; ENSG00000187848. [Q9UBL9-6]
ENST00000389110; ENSP00000373762; ENSG00000187848. [Q9UBL9-1]
ENST00000449132; ENSP00000405531; ENSG00000187848. [Q9UBL9-7]
GeneIDi22953.
KEGGihsa:22953.
UCSCiuc001uki.1. human. [Q9UBL9-2]
uc001ukj.1. human. [Q9UBL9-1]
uc001ukk.1. human. [Q9UBL9-4]
uc001ukl.1. human. [Q9UBL9-3]
uc001ukm.1. human. [Q9UBL9-6]
uc001ukn.1. human. [Q9UBL9-5]
uc001uko.1. human. [Q9UBL9-7]

Polymorphism databases

DMDMi12643353.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Wikipedia

P2X receptor entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF190822 mRNA. Translation: AAF19170.1 .
AF190823 mRNA. Translation: AAF19171.1 .
AF190824 mRNA. Translation: AAF19172.1 .
AF190825 mRNA. Translation: AAF19173.1 .
AF190826 Genomic DNA. Translation: AAF19174.1 .
AF109387 mRNA. Translation: AAD42947.1 .
AF109388 mRNA. Translation: AAD42948.1 .
AF260426 mRNA. Translation: AAF74201.1 .
AF260427 mRNA. Translation: AAF74202.1 .
AF260428 mRNA. Translation: AAF74203.1 .
AF260429 mRNA. Translation: AAF74204.1 .
AY346374 mRNA. Translation: AAQ54329.1 .
AC131212 Genomic DNA. No translation available.
CCDSi CCDS31930.1. [Q9UBL9-4 ]
CCDS31931.1. [Q9UBL9-1 ]
CCDS31932.1. [Q9UBL9-2 ]
CCDS31933.1. [Q9UBL9-3 ]
CCDS31934.1. [Q9UBL9-6 ]
CCDS31935.1. [Q9UBL9-5 ]
CCDS61286.1. [Q9UBL9-7 ]
RefSeqi NP_001269093.1. NM_001282164.1. [Q9UBL9-7 ]
NP_001269094.1. NM_001282165.1.
NP_036358.2. NM_012226.4. [Q9UBL9-6 ]
NP_057402.1. NM_016318.3. [Q9UBL9-3 ]
NP_733782.1. NM_170682.3. [Q9UBL9-1 ]
NP_733783.1. NM_170683.3. [Q9UBL9-4 ]
NP_777361.1. NM_174872.2. [Q9UBL9-5 ]
NP_777362.1. NM_174873.2. [Q9UBL9-2 ]
UniGenei Hs.258580.

3D structure databases

ProteinModelPortali Q9UBL9.
SMRi Q9UBL9. Positions 42-364.
ModBasei Search...
MobiDBi Search...

Chemistry

BindingDBi Q9UBL9.
ChEMBLi CHEMBL2531.
GuidetoPHARMACOLOGYi 479.

PTM databases

PhosphoSitei Q9UBL9.

Polymorphism databases

DMDMi 12643353.

Proteomic databases

PaxDbi Q9UBL9.
PRIDEi Q9UBL9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000343948 ; ENSP00000343339 ; ENSG00000187848 . [Q9UBL9-4 ]
ENST00000348800 ; ENSP00000345095 ; ENSG00000187848 . [Q9UBL9-2 ]
ENST00000350048 ; ENSP00000343904 ; ENSG00000187848 . [Q9UBL9-3 ]
ENST00000351222 ; ENSP00000344502 ; ENSG00000187848 . [Q9UBL9-5 ]
ENST00000352418 ; ENSP00000341419 ; ENSG00000187848 . [Q9UBL9-6 ]
ENST00000389110 ; ENSP00000373762 ; ENSG00000187848 . [Q9UBL9-1 ]
ENST00000449132 ; ENSP00000405531 ; ENSG00000187848 . [Q9UBL9-7 ]
GeneIDi 22953.
KEGGi hsa:22953.
UCSCi uc001uki.1. human. [Q9UBL9-2 ]
uc001ukj.1. human. [Q9UBL9-1 ]
uc001ukk.1. human. [Q9UBL9-4 ]
uc001ukl.1. human. [Q9UBL9-3 ]
uc001ukm.1. human. [Q9UBL9-6 ]
uc001ukn.1. human. [Q9UBL9-5 ]
uc001uko.1. human. [Q9UBL9-7 ]

Organism-specific databases

CTDi 22953.
GeneCardsi GC12P133195.
HGNCi HGNC:15459. P2RX2.
HPAi HPA014025.
MIMi 600844. gene.
608224. phenotype.
neXtProti NX_Q9UBL9.
Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKBi PA32862.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG68669.
HOVERGENi HBG053086.
KOi K05216.
OMAi LYFVWYV.
PhylomeDBi Q9UBL9.
TreeFami TF328633.

Miscellaneous databases

GeneWikii P2RX2.
GenomeRNAii 22953.
NextBioi 43725.
PROi Q9UBL9.
SOURCEi Search...

Gene expression databases

Bgeei Q9UBL9.
Genevestigatori Q9UBL9.

Family and domain databases

Gene3Di 2.60.490.10. 1 hit.
InterProi IPR003045. P2X2_purnocptor.
IPR027309. P2X_extracellular_dom.
IPR001429. P2X_purnocptor.
[Graphical view ]
PANTHERi PTHR10125. PTHR10125. 1 hit.
PTHR10125:SF4. PTHR10125:SF4. 1 hit.
Pfami PF00864. P2X_receptor. 1 hit.
[Graphical view ]
PRINTSi PR01309. P2X2RECEPTOR.
PR01307. P2XRECEPTOR.
TIGRFAMsi TIGR00863. P2X. 1 hit.
PROSITEi PS01212. P2X_RECEPTOR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular and functional characterization of human P2X(2) receptors."
    Lynch K.J., Touma E., Niforatos W., Kage K.L., Burgard E.C., van Biesen T., Kowaluk E.A., Jarvis M.F.
    Mol. Pharmacol. 56:1171-1181(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS A; B; C AND D).
    Tissue: Pituitary.
  2. "Cloning of the human P2X2 receptor cDNA and multiple splice variants."
    McMahon R.A., Egan T.M., Hurley P.T., Nelson A., Rogers M., Martin F.
    Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B).
    Tissue: Placenta.
  3. "Cloning and molecular characterization of human P2X2 and its splice variants."
    Chang T.K., Kosaka A.H., Oglesby I.B., Gever J.R., Lachnit W.G., Ford A.P.D.W., Chang D.J.
    Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; C; H AND I).
    Tissue: Prostate.
  4. Lin L., Zheng G., Yu R., Li H., Shen C., Zhou G., Zhong G., Li M., Xiao W., Ke R., Yang S.
    Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM K).
  5. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: VARIANT DFNA41 LEU-60, CHARACTERIZATION OF VARIANT DFNA41 LEU-60, FUNCTION, SUBCELLULAR LOCATION.
  7. "A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss."
    Faletra F., Girotto G., D'Adamo A.P., Vozzi D., Morgan A., Gasparini P.
    Gene 534:236-239(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNA41 ARG-353.

Entry informationi

Entry nameiP2RX2_HUMAN
AccessioniPrimary (citable) accession number: Q9UBL9
Secondary accession number(s): A6NGB4
, A6NH93, A6NHC2, A6NHU3, A6NIG9, Q6V9R6, Q9NR37, Q9NR38, Q9UHD5, Q9UHD6, Q9UHD7, Q9Y637, Q9Y638
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 120 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 12
    Human chromosome 12: 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

External Data

Dasty 3

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