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Entry version 129 (10 Apr 2019)
Sequence version 3 (23 Nov 2004)
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Protein

Olfactory receptor 2V2

Gene

OR2V2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Protein inferred from homologyi <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Odorant receptor.Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • G protein-coupled receptor activity Source: UniProtKB-KW
  • olfactory receptor activity Source: GO_Central

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer
Biological processOlfaction, Sensory transduction

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-381753 Olfactory Signaling Pathway

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Olfactory receptor 2V2
Alternative name(s):
Olfactory receptor 2V3
Olfactory receptor OR5-3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OR2V2
Synonyms:OR2V3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000182613.1

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15341 OR2V2

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96R30

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 26ExtracellularSequence analysisAdd BLAST26
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei27 – 50Helical; Name=1Sequence analysisAdd BLAST24
Topological domaini51 – 58CytoplasmicSequence analysis8
Transmembranei59 – 80Helical; Name=2Sequence analysisAdd BLAST22
Topological domaini81 – 101ExtracellularSequence analysisAdd BLAST21
Transmembranei102 – 121Helical; Name=3Sequence analysisAdd BLAST20
Topological domaini122 – 140CytoplasmicSequence analysisAdd BLAST19
Transmembranei141 – 159Helical; Name=4Sequence analysisAdd BLAST19
Topological domaini160 – 196ExtracellularSequence analysisAdd BLAST37
Transmembranei197 – 220Helical; Name=5Sequence analysisAdd BLAST24
Topological domaini221 – 237CytoplasmicSequence analysisAdd BLAST17
Transmembranei238 – 260Helical; Name=6Sequence analysisAdd BLAST23
Topological domaini261 – 273ExtracellularSequence analysisAdd BLAST13
Transmembranei274 – 293Helical; Name=7Sequence analysisAdd BLAST20
Topological domaini294 – 315CytoplasmicSequence analysisAdd BLAST22

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000182613

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA32212

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OR2V2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
55977873

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001505101 – 315Olfactory receptor 2V2Add BLAST315

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi6N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi98 ↔ 190PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96R30

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96R30

PRoteomics IDEntifications database

More...
PRIDEi
Q96R30

ProteomicsDB human proteome resource

More...
ProteomicsDBi
77927

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96R30

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96R30

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000182613 Expressed in 1 organ(s), highest expression level in right uterine tube

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049953

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000332185

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q96R30

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q96R30

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the G-protein coupled receptor 1 family.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IJNK Eukaryota
ENOG4111BJF LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182627

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000041365

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG017625

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96R30

KEGG Orthology (KO)

More...
KOi
K04257

Identification of Orthologs from Complete Genome Data

More...
OMAi
LRKVNHF

Database of Orthologous Groups

More...
OrthoDBi
905402at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96R30

TreeFam database of animal gene trees

More...
TreeFami
TF337295

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR000725 Olfact_rcpt

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13853 7tm_4, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00237 GPCRRHODOPSN
PR00245 OLFACTORYR

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q96R30-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
METWVNQSYT DGFFLLGIFS HSTADLVLFS VVMAVFTVAL CGNVLLIFLI
60 70 80 90 100
YMDPHLHTPM YFFLSQLSLM DLMLVCTNVP KMAANFLSGR KSISFVGCGI
110 120 130 140 150
QIGLFVCLVG SEGLLLGLMA YDRYVAISHP LHYPILMNQR VCLQITGSSW
160 170 180 190 200
AFGIIDGLIQ MVVVMNFPYC GLRKVNHFFC EMLSLLKLAC VDTSLFEKVI
210 220 230 240 250
FACCVFMLLF PFSIIVASYA HILGTVLQMH SAQAWKKALA TCSSHLTAVT
260 270 280 290 300
LFYGAAMFIY LRPRHYRAPS HDKVASIFYT VLTPMLNPLI YSLRNREVMG
310
ALRKGLDRCR IGSQH
Length:315
Mass (Da):35,339
Last modified:November 23, 2004 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8D84C611F9D48B74
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05316034A → V. Corresponds to variant dbSNP:rs17617270Ensembl.1
Natural variantiVAR_053161221H → R1 PublicationCorresponds to variant dbSNP:rs2546423Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB065675 Genomic DNA Translation: BAC05900.1
AF399614 Genomic DNA Translation: AAK95099.1
BK004246 Genomic DNA Translation: DAA04644.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4461.1

NCBI Reference Sequences

More...
RefSeqi
NP_996763.1, NM_206880.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.553681

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000328275; ENSP00000332185; ENSG00000182613
ENST00000641492; ENSP00000493207; ENSG00000182613
ENST00000641791; ENSP00000493017; ENSG00000182613

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
285659

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:285659

UCSC genome browser

More...
UCSCi
uc011dhj.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Human Olfactory Receptor Data Exploratorium (HORDE)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB065675 Genomic DNA Translation: BAC05900.1
AF399614 Genomic DNA Translation: AAK95099.1
BK004246 Genomic DNA Translation: DAA04644.1
CCDSiCCDS4461.1
RefSeqiNP_996763.1, NM_206880.1
UniGeneiHs.553681

3D structure databases

ProteinModelPortaliQ96R30
SMRiQ96R30
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000332185

Protein family/group databases

Information system for G protein-coupled receptors (GPCRs)

More...
GPCRDBi
Search...

PTM databases

iPTMnetiQ96R30
PhosphoSitePlusiQ96R30

Polymorphism and mutation databases

BioMutaiOR2V2
DMDMi55977873

Proteomic databases

jPOSTiQ96R30
PaxDbiQ96R30
PRIDEiQ96R30
ProteomicsDBi77927

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328275; ENSP00000332185; ENSG00000182613
ENST00000641492; ENSP00000493207; ENSG00000182613
ENST00000641791; ENSP00000493017; ENSG00000182613
GeneIDi285659
KEGGihsa:285659
UCSCiuc011dhj.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
285659
EuPathDBiHostDB:ENSG00000182613.1

GeneCards: human genes, protein and diseases

More...
GeneCardsi
OR2V2
HGNCiHGNC:15341 OR2V2
HPAiHPA049953
neXtProtiNX_Q96R30
OpenTargetsiENSG00000182613
PharmGKBiPA32212

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IJNK Eukaryota
ENOG4111BJF LUCA
GeneTreeiENSGT00950000182627
HOGENOMiHOG000041365
HOVERGENiHBG017625
InParanoidiQ96R30
KOiK04257
OMAiLRKVNHF
OrthoDBi905402at2759
PhylomeDBiQ96R30
TreeFamiTF337295

Enzyme and pathway databases

ReactomeiR-HSA-381753 Olfactory Signaling Pathway

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
OR2V2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
285659

Protein Ontology

More...
PROi
PR:Q96R30

Gene expression databases

BgeeiENSG00000182613 Expressed in 1 organ(s), highest expression level in right uterine tube

Family and domain databases

InterProiView protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR000725 Olfact_rcpt
PfamiView protein in Pfam
PF13853 7tm_4, 1 hit
PRINTSiPR00237 GPCRRHODOPSN
PR00245 OLFACTORYR
PROSITEiView protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOR2V2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96R30
Secondary accession number(s): Q6IFL6, Q8NGV1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: November 23, 2004
Last modified: April 10, 2019
This is version 129 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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