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Entry version 192 (16 Oct 2019)
Sequence version 1 (01 Nov 1996)
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Protein

Glutamate receptor ionotropic, kainate 2

Gene

GRIK2

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

Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L-glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist (PubMed:28180184). May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2 (By similarity).By similarity1 Publication

Miscellaneous

The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds domoate > kainate > quisqualate > 6-cyano-7-nitroquinoxaline-2,3-dione > L-glutamate = 6,7-dinitroquinoxaline-2,3-dione > dihydrokainate.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei523GlutamateBy similarity1
Binding sitei738GlutamateBy similarity1

<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 functionIon channel, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-451307 Activation of Na-permeable kainate receptors
R-HSA-451308 Activation of Ca-permeable Kainate Receptor

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q13002

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q13002

<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:
Glutamate receptor ionotropic, kainate 2
Short name:
GluK2
Alternative name(s):
Excitatory amino acid receptor 4
Short name:
EAA4
Glutamate receptor 6
Short name:
GluR-6
Short name:
GluR6
<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:GRIK2
Synonyms:GLUR6
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4580 GRIK2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
138244 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13002

<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 domaini32 – 561ExtracellularSequence analysisAdd BLAST530
<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>Transmembranei562 – 582HelicalSequence analysisAdd BLAST21
Topological domaini583 – 635CytoplasmicSequence analysisAdd BLAST53
Transmembranei636 – 656HelicalSequence analysisAdd BLAST21
Topological domaini657 – 819ExtracellularSequence analysisAdd BLAST163
Transmembranei820 – 840HelicalSequence analysisAdd BLAST21
Topological domaini841 – 908CytoplasmicSequence analysisAdd BLAST68

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, autosomal recessive 6 (MRT6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. In contrast to syndromic or specific mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic mental retardation. MRT6 patients display mild to severe mental retardation and psychomotor development delay in early childhood. Patients do not have neurologic problems, congenital malformations, or facial dysmorphism. Body height, weight, and head circumference are normal.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2898

MalaCards human disease database

More...
MalaCardsi
GRIK2
MIMi611092 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164418

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
88616 Autosomal recessive non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164741600

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q13002

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3683

Drug and drug target database

More...
DrugBanki
DB03425 2s,4r-4-Methylglutamate
DB01351 Amobarbital
DB01352 Aprobarbital
DB01483 Barbital
DB01496 Barbituric acid derivative
DB00237 Butabarbital
DB00241 Butalbital
DB01353 Butobarbital
DB02852 Domoic Acid
DB00142 Glutamic Acid
DB01354 Heptabarbital
DB01355 Hexobarbital
DB00463 Metharbital
DB00849 Methylphenobarbital
DB00312 Pentobarbital
DB01174 Phenobarbital
DB00794 Primidone
DB02999 Quisqualate
DB00418 Secobarbital
DB00306 Talbutal
DB00599 Thiopental

DrugCentral

More...
DrugCentrali
Q13002

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
451

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GRIK2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2492627

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 31Sequence analysisAdd BLAST31
<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_000001154432 – 908Glutamate receptor ionotropic, kainate 2Add BLAST877

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>Glycosylationi67N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi73N-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 bondi96 ↔ 347By similarity
Glycosylationi275N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi378N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi412N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi423N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi430N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi546N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei846Phosphoserine; by PKC1 Publication1
Modified residuei868Phosphoserine; by PKC1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki886Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylation mediates kainate receptor-mediated endocytosis and regulates synaptic transmission. Sumoylation is enhanced by PIAS3 and desumoylated by SENP1 (By similarity).By similarity
Ubiquitinated. Ubiquitination regulates the GRIK2 levels at the synapse by leading kainate receptor degradation through proteasome (By similarity).By similarity
Phosphorylated by PKC at Ser-868 upon agonist activation, this directly enhance sumoylation.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q13002

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q13002

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

More...
PaxDbi
Q13002

PeptideAtlas

More...
PeptideAtlasi
Q13002

PRoteomics IDEntifications database

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PRIDEi
Q13002

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
59089 [Q13002-1]
59090 [Q13002-2]
59091 [Q13002-3]
59092 [Q13002-4]
59093 [Q13002-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q13002

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

More...
PhosphoSitePlusi
Q13002

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q13002

<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

Expression is higher in cerebellum than in cerebral cortex.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000164418 Expressed in 167 organ(s), highest expression level in forebrain

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13002 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13002 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB022463
HPA014395
HPA014623

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer or heterotetramer of pore-forming glutamate receptor subunits. Tetramers may be formed by the dimerization of dimers (Probable). Assembles into a kainate-gated homomeric channel that does not bind AMPA. GRIK2 associated to GRIK5 forms functional channels that can be gated by AMPA (By similarity).

Interacts with DLG4.

Interacts with NETO2 (By similarity).

Interacts (via C-terminus) with KLHL17 (via kelch repeats); the interaction targets GRIK2 for degradation via ubiquitin-proteasome pathway (By similarity).

By similarityCurated

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109155, 15 interactors

Protein interaction database and analysis system

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IntActi
Q13002, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000397026

<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

Secondary structure

1908
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q13002

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni516 – 518Glutamate bindingBy similarity3
Regioni689 – 690Glutamate bindingBy similarity2

<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

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1054 Eukaryota
ENOG410XPSH LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155610

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000234371

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13002

KEGG Orthology (KO)

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KOi
K05202

Identification of Orthologs from Complete Genome Data

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OMAi
HENPSYT

Database of Orthologous Groups

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OrthoDBi
188544at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q13002

TreeFam database of animal gene trees

More...
TreeFami
TF334668

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001828 ANF_lig-bd_rcpt
IPR019594 Glu/Gly-bd
IPR001508 Iono_rcpt_met
IPR001320 Iontro_rcpt
IPR028082 Peripla_BP_I

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01094 ANF_receptor, 1 hit
PF00060 Lig_chan, 1 hit
PF10613 Lig_chan-Glu_bd, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00177 NMDARECEPTOR

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00918 Lig_chan-Glu_bd, 1 hit
SM00079 PBPe, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53822 SSF53822, 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>Sequences (7+)i

<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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 7 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13002-1) [UniParc]FASTAAdd to basket
Also known as: A

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
        10         20         30         40         50
MKIIFPILSN PVFRRTVKLL LCLLWIGYSQ GTTHVLRFGG IFEYVESGPM
60 70 80 90 100
GAEELAFRFA VNTINRNRTL LPNTTLTYDT QKINLYDSFE ASKKACDQLS
110 120 130 140 150
LGVAAIFGPS HSSSANAVQS ICNALGVPHI QTRWKHQVSD NKDSFYVSLY
160 170 180 190 200
PDFSSLSRAI LDLVQFFKWK TVTVVYDDST GLIRLQELIK APSRYNLRLK
210 220 230 240 250
IRQLPADTKD AKPLLKEMKR GKEFHVIFDC SHEMAAGILK QALAMGMMTE
260 270 280 290 300
YYHYIFTTLD LFALDVEPYR YSGVNMTGFR ILNTENTQVS SIIEKWSMER
310 320 330 340 350
LQAPPKPDSG LLDGFMTTDA ALMYDAVHVV SVAVQQFPQM TVSSLQCNRH
360 370 380 390 400
KPWRFGTRFM SLIKEAHWEG LTGRITFNKT NGLRTDFDLD VISLKEEGLE
410 420 430 440 450
KIGTWDPASG LNMTESQKGK PANITDSLSN RSLIVTTILE EPYVLFKKSD
460 470 480 490 500
KPLYGNDRFE GYCIDLLREL STILGFTYEI RLVEDGKYGA QDDANGQWNG
510 520 530 540 550
MVRELIDHKA DLAVAPLAIT YVREKVIDFS KPFMTLGISI LYRKPNGTNP
560 570 580 590 600
GVFSFLNPLS PDIWMYILLA YLGVSCVLFV IARFSPYEWY NPHPCNPDSD
610 620 630 640 650
VVENNFTLLN SFWFGVGALM QQGSELMPKA LSTRIVGGIW WFFTLIIISS
660 670 680 690 700
YTANLAAFLT VERMESPIDS ADDLAKQTKI EYGAVEDGAT MTFFKKSKIS
710 720 730 740 750
TYDKMWAFMS SRRQSVLVKS NEEGIQRVLT SDYAFLMEST TIEFVTQRNC
760 770 780 790 800
NLTQIGGLID SKGYGVGTPM GSPYRDKITI AILQLQEEGK LHMMKEKWWR
810 820 830 840 850
GNGCPEEESK EASALGVQNI GGIFIVLAAG LVLSVFVAVG EFLYKSKKNA
860 870 880 890 900
QLEKRSFCSA MVEELRMSLK CQRRLKHKPQ APVIVKTEEV INMHTFNDRR

LPGKETMA
Length:908
Mass (Da):102,583
Last modified:November 1, 1996 - 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:i5F34630524401E84
GO
Isoform 2 (identifier: Q13002-2) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     855-908: RSFCSAMVEELRMSLKCQRRLKHKPQAPVIVKTEEVINMHTFNDRRLPGKETMA → ESSIWLVPPYHPDTV

Show »
Length:869
Mass (Da):97,981
Checksum:iD85D8A5CB2B0C1FA
GO
Isoform 3 (identifier: Q13002-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     585-908: Missing.

Show »
Length:584
Mass (Da):66,108
Checksum:iE0E9EC92339921A1
GO
Isoform 4 (identifier: Q13002-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     547-622: Missing.

Show »
Length:832
Mass (Da):93,966
Checksum:iC0E9B91AC6AD6012
GO
Isoform 5 (identifier: Q13002-5) [UniParc]FASTAAdd to basket
Also known as: C

The sequence of this isoform differs from the canonical sequence as follows:
     856-908: SFCSAMVEEL...RRLPGKETMA → AKTKLPQDYV...PSSSSLSSCS

Show »
Length:892
Mass (Da):100,243
Checksum:i50A477CB1265AF26
GO
Isoform 6 (identifier: Q13002-6) [UniParc]FASTAAdd to basket
Also known as: D

The sequence of this isoform differs from the canonical sequence as follows:
     509-695: Missing.
     855-908: RSFCSAMVEELRMSLKCQRRLKHKPQAPVIVKTEEVINMHTFNDRRLPGKETMA → ESSIWLVPPYHPDTV

Note: Seems to be specific for non-neuronal cells. May not function as active channel.
Show »
Length:682
Mass (Da):77,054
Checksum:iB08053B65BE3087F
GO
Isoform 7 (identifier: Q13002-7) [UniParc]FASTAAdd to basket
Also known as: E

The sequence of this isoform differs from the canonical sequence as follows:
     510-714: Missing.
     856-908: SFCSAMVEEL...RRLPGKETMA → AKTKLPQDYV...PSSSSLSSCS

Note: Seems to be specific for non-neuronal cells. May not function as active channel.
Show »
Length:687
Mass (Da):77,112
Checksum:i5BBD1224CA1A5FCC
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WEZ8F8WEZ8_HUMAN
Glutamate receptor ionotropic, kain...
GRIK2
870Annotation score:

Annotation score:1 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>
A0A0A0MR30A0A0A0MR30_HUMAN
Glutamate receptor ionotropic, kain...
GRIK2
854Annotation score:

Annotation score:1 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>
A0A0A0MRL4A0A0A0MRL4_HUMAN
Glutamate receptor ionotropic, kain...
GRIK2
831Annotation score:

Annotation score:1 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>
H7C2P5H7C2P5_HUMAN
Glutamate receptor ionotropic, kain...
GRIK2
182Annotation score:

Annotation score:1 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>
G3XAD3G3XAD3_HUMAN
Glutamate receptor ionotropic, kain...
GRIK2 hCG_16784
353Annotation score:

Annotation score:1 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>
H7BZX7H7BZX7_HUMAN
Glutamate receptor ionotropic, kain...
GRIK2
180Annotation score:

Annotation score:1 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti20L → P in CAC81020 (Ref. 3) Curated1
Sequence conflicti20L → P in ADH93570 (PubMed:20230879).Curated1
Sequence conflicti20L → P in ADH93571 (PubMed:20230879).Curated1
Sequence conflicti20L → P in ADH93572 (PubMed:20230879).Curated1
Sequence conflicti20L → P in ADH93573 (PubMed:20230879).Curated1
Sequence conflicti789G → S (PubMed:8034316).Curated1

<p>This subsection of the ‘Sequence’ section provides information relevant to all types of RNA editing events (conversion, insertion, deletion of nucleotides) that lead to one or more amino acid changes compared to the translation of the non-edited RNA version.<p><a href='/help/rna_editing' target='_top'>More...</a></p>RNA editingi

Edited at positions 567, 571 and 621.1 Publication
Partially edited. The presence of Gln at position 621 (non-edited) determines channels with low calcium permeability, whereas Arg (edited) determines a higher calcium permeability especially if the preceding sites are fully edited. This receptor is nearly completely edited in all gray matter structures (90% of the receptors), whereas much less edited in the white matter (10% of the receptors).

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_035694187E → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_000305567I → V in RNA edited version. 1
Natural variantiVAR_000306571Y → C in RNA edited version. 1
Natural variantiVAR_000307621Q → R in RNA edited version. 1
Natural variantiVAR_078426657A → T Probable disease-associated mutation found in a patient with ataxia, motor and speech delay and intellectual disability; gain of function. 1 Publication1
Natural variantiVAR_049186766V → I. Corresponds to variant dbSNP:rs3213608EnsemblClinVar.1
Natural variantiVAR_037633867M → I1 PublicationCorresponds to variant dbSNP:rs2235076EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_044388509 – 695Missing in isoform 6. 1 PublicationAdd BLAST187
Alternative sequenceiVSP_044389510 – 714Missing in isoform 7. 1 PublicationAdd BLAST205
Alternative sequenceiVSP_022334547 – 622Missing in isoform 4. 1 PublicationAdd BLAST76
Alternative sequenceiVSP_022337585 – 908Missing in isoform 3. 1 PublicationAdd BLAST324
Alternative sequenceiVSP_022335855 – 908RSFCS…KETMA → ESSIWLVPPYHPDTV in isoform 2 and isoform 6. 2 PublicationsAdd BLAST54
Alternative sequenceiVSP_022336856 – 908SFCSA…KETMA → AKTKLPQDYVFLPILESVSI STVLSSSPSSSSLSSCS in isoform 5 and isoform 7. 2 PublicationsAdd BLAST53

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
U16126 mRNA Translation: AAC50420.1
AJ252246 mRNA Translation: CAC81020.1
AJ301608 mRNA Translation: CAC67485.1
AJ301609 mRNA Translation: CAC67486.1
AJ301610 mRNA Translation: CAC67487.1
HM149335 mRNA Translation: ADH93569.1
HM149336 mRNA Translation: ADH93570.1
HM149337 mRNA Translation: ADH93571.1
HM149338 mRNA Translation: ADH93572.1
HM149339 mRNA Translation: ADH93573.1
AL109919 Genomic DNA No translation available.
AP002528 Genomic DNA No translation available.
AP002529 Genomic DNA No translation available.
AP002530 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48448.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5048.1 [Q13002-1]
CCDS5049.1 [Q13002-2]
CCDS55045.1 [Q13002-5]

Protein sequence database of the Protein Information Resource

More...
PIRi
A54260

NCBI Reference Sequences

More...
RefSeqi
NP_001159719.1, NM_001166247.1 [Q13002-5]
NP_068775.1, NM_021956.4 [Q13002-1]
NP_786944.1, NM_175768.3 [Q13002-2]
XP_005267002.1, XM_005266945.2 [Q13002-1]
XP_011534079.1, XM_011535777.2 [Q13002-5]
XP_011534080.1, XM_011535778.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000369138; ENSP00000358134; ENSG00000164418 [Q13002-5]
ENST00000413795; ENSP00000405596; ENSG00000164418 [Q13002-2]
ENST00000421544; ENSP00000397026; ENSG00000164418 [Q13002-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2898

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2898

UCSC genome browser

More...
UCSCi
uc003pqo.5 human [Q13002-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, RNA editing

<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
U16126 mRNA Translation: AAC50420.1
AJ252246 mRNA Translation: CAC81020.1
AJ301608 mRNA Translation: CAC67485.1
AJ301609 mRNA Translation: CAC67486.1
AJ301610 mRNA Translation: CAC67487.1
HM149335 mRNA Translation: ADH93569.1
HM149336 mRNA Translation: ADH93570.1
HM149337 mRNA Translation: ADH93571.1
HM149338 mRNA Translation: ADH93572.1
HM149339 mRNA Translation: ADH93573.1
AL109919 Genomic DNA No translation available.
AP002528 Genomic DNA No translation available.
AP002529 Genomic DNA No translation available.
AP002530 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW48448.1
CCDSiCCDS5048.1 [Q13002-1]
CCDS5049.1 [Q13002-2]
CCDS55045.1 [Q13002-5]
PIRiA54260
RefSeqiNP_001159719.1, NM_001166247.1 [Q13002-5]
NP_068775.1, NM_021956.4 [Q13002-1]
NP_786944.1, NM_175768.3 [Q13002-2]
XP_005267002.1, XM_005266945.2 [Q13002-1]
XP_011534079.1, XM_011535777.2 [Q13002-5]
XP_011534080.1, XM_011535778.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3QXMX-ray1.65A/B429-544[»]
A/B667-806[»]
5CMMX-ray1.27A667-806[»]
SMRiQ13002
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi109155, 15 interactors
IntActiQ13002, 2 interactors
STRINGi9606.ENSP00000397026

Chemistry databases

ChEMBLiCHEMBL3683
DrugBankiDB03425 2s,4r-4-Methylglutamate
DB01351 Amobarbital
DB01352 Aprobarbital
DB01483 Barbital
DB01496 Barbituric acid derivative
DB00237 Butabarbital
DB00241 Butalbital
DB01353 Butobarbital
DB02852 Domoic Acid
DB00142 Glutamic Acid
DB01354 Heptabarbital
DB01355 Hexobarbital
DB00463 Metharbital
DB00849 Methylphenobarbital
DB00312 Pentobarbital
DB01174 Phenobarbital
DB00794 Primidone
DB02999 Quisqualate
DB00418 Secobarbital
DB00306 Talbutal
DB00599 Thiopental
DrugCentraliQ13002
GuidetoPHARMACOLOGYi451

PTM databases

iPTMnetiQ13002
PhosphoSitePlusiQ13002
SwissPalmiQ13002

Polymorphism and mutation databases

BioMutaiGRIK2
DMDMi2492627

Proteomic databases

MassIVEiQ13002
MaxQBiQ13002
PaxDbiQ13002
PeptideAtlasiQ13002
PRIDEiQ13002
ProteomicsDBi59089 [Q13002-1]
59090 [Q13002-2]
59091 [Q13002-3]
59092 [Q13002-4]
59093 [Q13002-5]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2898

Genome annotation databases

EnsembliENST00000369138; ENSP00000358134; ENSG00000164418 [Q13002-5]
ENST00000413795; ENSP00000405596; ENSG00000164418 [Q13002-2]
ENST00000421544; ENSP00000397026; ENSG00000164418 [Q13002-1]
GeneIDi2898
KEGGihsa:2898
UCSCiuc003pqo.5 human [Q13002-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2898
DisGeNETi2898

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GRIK2
HGNCiHGNC:4580 GRIK2
HPAiCAB022463
HPA014395
HPA014623
MalaCardsiGRIK2
MIMi138244 gene
611092 phenotype
neXtProtiNX_Q13002
OpenTargetsiENSG00000164418
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
PharmGKBiPA164741600

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1054 Eukaryota
ENOG410XPSH LUCA
GeneTreeiENSGT00940000155610
HOGENOMiHOG000234371
InParanoidiQ13002
KOiK05202
OMAiHENPSYT
OrthoDBi188544at2759
PhylomeDBiQ13002
TreeFamiTF334668

Enzyme and pathway databases

ReactomeiR-HSA-451307 Activation of Na-permeable kainate receptors
R-HSA-451308 Activation of Ca-permeable Kainate Receptor
SignaLinkiQ13002
SIGNORiQ13002

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GRIK2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GRIK2

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

More...
GenomeRNAii
2898
PharosiQ13002

Protein Ontology

More...
PROi
PR:Q13002

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164418 Expressed in 167 organ(s), highest expression level in forebrain
ExpressionAtlasiQ13002 baseline and differential
GenevisibleiQ13002 HS

Family and domain databases

InterProiView protein in InterPro
IPR001828 ANF_lig-bd_rcpt
IPR019594 Glu/Gly-bd
IPR001508 Iono_rcpt_met
IPR001320 Iontro_rcpt
IPR028082 Peripla_BP_I
PfamiView protein in Pfam
PF01094 ANF_receptor, 1 hit
PF00060 Lig_chan, 1 hit
PF10613 Lig_chan-Glu_bd, 1 hit
PRINTSiPR00177 NMDARECEPTOR
SMARTiView protein in SMART
SM00918 Lig_chan-Glu_bd, 1 hit
SM00079 PBPe, 1 hit
SUPFAMiSSF53822 SSF53822, 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 nameiGRIK2_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: Q13002
Secondary accession number(s): A6NMY9
, B5MCV0, D7RWZ3, D7RWZ4, D7RWZ5, D7RWZ6, D7RWZ7, Q8WWS1, Q96KS6, Q96KS7, Q96KS8
<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: November 1, 1997
Last sequence update: November 1, 1996
Last modified: October 16, 2019
This is version 192 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  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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