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Entry version 143 (18 Sep 2019)
Sequence version 1 (01 Oct 2000)
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Protein

Taste receptor type 2 member 5

Gene

TAS2R5

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

Annotation score:5 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>
-Experimental evidence at protein leveli <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

Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5.

Miscellaneous

Most taste cells may be activated by a limited number of bitter compounds; individual taste cells can discriminate among bitter stimuli.

<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

GO - Biological processi

<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 processSensory transduction, Taste

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-418594 G alpha (i) signalling events
R-HSA-420499 Class C/3 (Metabotropic glutamate/pheromone receptors)

<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:
Taste receptor type 2 member 5
Short name:
T2R5
<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:TAS2R5
<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 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14912 TAS2R5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605062 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NYW4

<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 domaini1ExtracellularSequence analysis1
<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>Transmembranei2 – 22Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini23 – 45CytoplasmicSequence analysisAdd BLAST23
Transmembranei46 – 66Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini67 – 82ExtracellularSequence analysisAdd BLAST16
Transmembranei83 – 103Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini104 – 127CytoplasmicSequence analysisAdd BLAST24
Transmembranei128 – 148Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini149 – 175ExtracellularSequence analysisAdd BLAST27
Transmembranei176 – 196Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini197 – 223CytoplasmicSequence analysisAdd BLAST27
Transmembranei224 – 244Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini245 – 253ExtracellularSequence analysis9
Transmembranei254 – 274Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini275 – 299CytoplasmicSequence analysisAdd BLAST25

Keywords - Cellular componenti

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
ENSG00000127366

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37924

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NYW4

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TAS2R5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
29839664

<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_00000822121 – 299Taste receptor type 2 member 5Add BLAST299

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>Glycosylationi155N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

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

More...
PaxDbi
Q9NYW4

PeptideAtlas

More...
PeptideAtlasi
Q9NYW4

PRoteomics IDEntifications database

More...
PRIDEi
Q9NYW4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83290

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NYW4

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

More...
PhosphoSitePlusi
Q9NYW4

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin-positive cells.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000127366 Expressed in 89 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NYW4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NYW4 HS

<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

Protein interaction database and analysis system

More...
IntActi
Q9NYW4, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000247883

<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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IKQ4 Eukaryota
ENOG41119UC LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00960000186638

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000234595

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NYW4

KEGG Orthology (KO)

More...
KOi
K08474

Identification of Orthologs from Complete Genome Data

More...
OMAi
CRFLLQW

Database of Orthologous Groups

More...
OrthoDBi
1010573at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NYW4

TreeFam database of animal gene trees

More...
TreeFami
TF335891

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007960 T2R

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05296 TAS2R, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<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.

Q9NYW4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLSAGLGLLM LVAVVEFLIG LIGNGSLVVW SFREWIRKFN WSSYNLIILG
60 70 80 90 100
LAGCRFLLQW LIILDLSLFP LFQSSRWLRY LSIFWVLVSQ ASLWFATFLS
110 120 130 140 150
VFYCKKITTF DRPAYLWLKQ RAYNLSLWCL LGYFIINLLL TVQIGLTFYH
160 170 180 190 200
PPQGNSSIRY PFESWQYLYA FQLNSGSYLP LVVFLVSSGM LIVSLYTHHK
210 220 230 240 250
KMKVHSAGRR DVRAKAHITA LKSLGCFLLL HLVYIMASPF SITSKTYPPD
260 270 280 290
LTSVFIWETL MAAYPSLHSL ILIMGIPRVK QTCQKILWKT VCARRCWGP
Length:299
Mass (Da):34,505
Last modified:October 1, 2000 - v1
<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:iF85064A07E9018C7
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_05334320G → S. Corresponds to variant dbSNP:rs2234013Ensembl.1
Natural variantiVAR_02020326S → I. Corresponds to variant dbSNP:rs2227264Ensembl.1
Natural variantiVAR_034537113P → L. Corresponds to variant dbSNP:rs2234014Ensembl.1
Natural variantiVAR_034538167Y → C. Corresponds to variant dbSNP:rs34529840Ensembl.1
Natural variantiVAR_024184213R → Q. Corresponds to variant dbSNP:rs2234015Ensembl.1
Natural variantiVAR_053344294R → L. Corresponds to variant dbSNP:rs2234016Ensembl.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
AF227132 Genomic DNA Translation: AAF43905.1
AY724966 Genomic DNA Translation: AAU21159.1
AC004979 Genomic DNA Translation: AAS02040.1
BC069509 mRNA Translation: AAH69509.1
BC101586 mRNA Translation: AAI01587.1
BC101588 mRNA Translation: AAI01589.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5869.1

NCBI Reference Sequences

More...
RefSeqi
NP_061853.1, NM_018980.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000247883; ENSP00000247883; ENSG00000127366

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
54429

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:54429

UCSC genome browser

More...
UCSCi
uc003vwr.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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF227132 Genomic DNA Translation: AAF43905.1
AY724966 Genomic DNA Translation: AAU21159.1
AC004979 Genomic DNA Translation: AAS02040.1
BC069509 mRNA Translation: AAH69509.1
BC101586 mRNA Translation: AAI01587.1
BC101588 mRNA Translation: AAI01589.1
CCDSiCCDS5869.1
RefSeqiNP_061853.1, NM_018980.2

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

IntActiQ9NYW4, 5 interactors
STRINGi9606.ENSP00000247883

Protein family/group databases

Information system for G protein-coupled receptors (GPCRs)

More...
GPCRDBi
Search...

PTM databases

iPTMnetiQ9NYW4
PhosphoSitePlusiQ9NYW4

Polymorphism and mutation databases

BioMutaiTAS2R5
DMDMi29839664

Proteomic databases

PaxDbiQ9NYW4
PeptideAtlasiQ9NYW4
PRIDEiQ9NYW4
ProteomicsDBi83290

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
54429

Genome annotation databases

EnsembliENST00000247883; ENSP00000247883; ENSG00000127366
GeneIDi54429
KEGGihsa:54429
UCSCiuc003vwr.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
54429

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TAS2R5
HGNCiHGNC:14912 TAS2R5
MIMi605062 gene
neXtProtiNX_Q9NYW4
OpenTargetsiENSG00000127366
PharmGKBiPA37924

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IKQ4 Eukaryota
ENOG41119UC LUCA
GeneTreeiENSGT00960000186638
HOGENOMiHOG000234595
InParanoidiQ9NYW4
KOiK08474
OMAiCRFLLQW
OrthoDBi1010573at2759
PhylomeDBiQ9NYW4
TreeFamiTF335891

Enzyme and pathway databases

ReactomeiR-HSA-418594 G alpha (i) signalling events
R-HSA-420499 Class C/3 (Metabotropic glutamate/pheromone receptors)

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TAS2R5

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

More...
GenomeRNAii
54429
PharosiQ9NYW4

Protein Ontology

More...
PROi
PR:Q9NYW4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000127366 Expressed in 89 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ9NYW4 baseline and differential
GenevisibleiQ9NYW4 HS

Family and domain databases

InterProiView protein in InterPro
IPR007960 T2R
PfamiView protein in Pfam
PF05296 TAS2R, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiTA2R5_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: Q9NYW4
Secondary accession number(s): Q645W0, Q75MV7
<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: April 11, 2003
Last sequence update: October 1, 2000
Last modified: September 18, 2019
This is version 143 of the entry and version 1 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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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