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UniProtKB - P18507 (GBRG2_HUMAN)

Protein

Gamma-aminobutyric acid receptor subunit gamma-2

Gene

GABRG2

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

Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.1 Publication

Miscellaneous

This subunit carries the benzodiazepine binding site.

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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 functionChloride channel, Ion channel
Biological processIon transport, Transport
LigandChloride

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-977441 GABA A receptor activation
R-HSA-977443 GABA receptor activation

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.9.5.4 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

<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:
Gamma-aminobutyric acid receptor subunit gamma-2
Alternative name(s):
GABA(A) receptor subunit gamma-2
<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:GABRG2
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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:ENSG00000113327.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:4087 GABRG2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		137164 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P18507

<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; 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 domaini40 – 273ExtracellularCuratedAdd BLAST234
<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>Transmembranei274 – 296HelicalCuratedAdd BLAST23
Transmembranei300 – 322HelicalCuratedAdd BLAST23
Transmembranei334 – 356HelicalCuratedAdd BLAST23
Topological domaini357 – 443CytoplasmicCuratedAdd BLAST87
Transmembranei444 – 466HelicalCuratedAdd BLAST23

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasmic vesicle, 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

Epilepsy, childhood absence 2 (ECA2)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Some individuals manifest febrile seizures. Absence seizures may either remit or persist into adulthood.
See also OMIM:607681
Febrile seizures, familial, 8 (FEB8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSeizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy.
See also OMIM:611277
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_038602177R → G in FEB8. 1 PublicationCorresponds to variant dbSNP:rs267606837EnsemblClinVar.1
Generalized epilepsy with febrile seizures plus 3 (GEFS+3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
See also OMIM:611277
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078620323R → Q in GEFS+3. 1 PublicationCorresponds to variant dbSNP:rs397514737EnsemblClinVar.1
Natural variantiVAR_014266328K → M in GEFS+3. 1 PublicationCorresponds to variant dbSNP:rs121909672Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		2566

MalaCards human disease database

More...MalaCardsi		GABRG2
MIMi604233 phenotype
607681 phenotype
611277 phenotype

Open Targets

More...OpenTargetsi		ENSG00000113327

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

More...Orphaneti		64280 Childhood absence epilepsy
33069 Dravet syndrome
36387 Generalized epilepsy with febrile seizures-plus
1945 Rolandic epilepsy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28501

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2111392

Drug and drug target database

More...DrugBanki		DB00659 Acamprosate
DB00546 Adinazolam
DB06579 Adipiplon
DB00404 Alprazolam
DB00543 Amoxapine
DB01558 Bromazepam
DB00237 Butabarbital
DB00241 Butalbital
DB00475 Chlordiazepoxide
DB01594 Cinolazepam
DB00349 Clobazam
DB01068 Clonazepam
DB00628 Clorazepate
DB01559 Clotiazepam
DB01189 Desflurane
DB00829 Diazepam
DB00228 Enflurane
DB01049 Ergoloid mesylate
DB01215 Estazolam
DB00402 Eszopiclone
DB00189 Ethchlorvynol
DB00292 Etomidate
DB01567 Fludiazepam
DB01205 Flumazenil
DB00690 Flurazepam
DB01381 Ginkgo biloba
DB01437 Glutethimide
DB00801 Halazepam
DB01159 Halothane
DB00753 Isoflurane
DB00186 Lorazepam
DB00371 Meprobamate
DB00463 Metharbital
DB01028 Methoxyflurane
DB01107 Methyprylon
DB00683 Midazolam
DB01595 Nitrazepam
DB00334 Olanzapine
DB00842 Oxazepam
DB00312 Pentobarbital
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00818 Propofol
DB01589 Quazepam
DB01236 Sevoflurane
DB00306 Talbutal
DB00231 Temazepam
DB11582 Thiocolchicoside
DB00273 Topiramate
DB00897 Triazolam

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GABRG2

Domain mapping of disease mutations (DMDM)

More...DMDMi		116242488

<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 – 39Sequence analysisAdd BLAST39
<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_000000047740 – 467Gamma-aminobutyric acid receptor subunit gamma-2Add BLAST428

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>Glycosylationi52N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi129N-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 bondi190 ↔ 204By similarity
Glycosylationi247N-linked (GlcNAc...) asparagineSequence analysis1

<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

Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P18507

PeptideAtlas

More...PeptideAtlasi		P18507

PRoteomics IDEntifications database

More...PRIDEi		P18507

ProteomicsDB human proteome resource

More...ProteomicsDBi		53569
53570 [P18507-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		P18507-2 [P18507-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P18507

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

More...PhosphoSitePlusi		P18507

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P18507

<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		ENSG00000113327 Expressed in 92 organ(s), highest expression level in middle temporal gyrus

CleanEx database of gene expression profiles

More...CleanExi		HS_GABRG2

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P18507 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P18507 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB079060

<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

Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:2538761). Interacts with GABARAP (PubMed:9892355). Interacts with KIF21B (By similarity). Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (By similarity). Interacts with LHFPL4 (By similarity).By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
GABARAPO951663EBI-15096952,EBI-712001

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108840, 15 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-2159 GABA-A receptor, alpha-1/beta-2/gamma-2
CPX-2164 GABA-A receptor, alpha-6/beta-3/gamma-2
CPX-2166 GABA-A receptor, alpha-3/beta-3/gamma-2
CPX-2167 GABA-A receptor, alpha-1/beta-3/gamma-2
CPX-2168 GABA-A receptor, alpha-5/beta-3/gamma-2
CPX-2174 GABA-A receptor, alpha-2/beta-3/gamma-2

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P18507

Protein interaction database and analysis system

More...IntActi		P18507, 1 interactor

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P18507

<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		P18507

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

More...SMRi		P18507

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

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>Regioni425 – 442Interaction with GABARAPSequence analysisAdd BLAST18

<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 ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRG2 sub-subfamily. [View classification]Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156685

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231337

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051707

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P18507

KEGG Orthology (KO)

More...KOi		K05186

Identification of Orthologs from Complete Genome Data

More...OMAi		LTPKVHE

Database of Orthologous Groups

More...OrthoDBi		EOG091G0805

Database for complete collections of gene phylogenies

More...PhylomeDBi		P18507

TreeFam database of animal gene trees

More...TreeFami		TF315453

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.70.170.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006028 GABAA/Glycine_rcpt
IPR005439 GABBAg2_rcpt
IPR005437 GABBAg_rcpt
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
IPR006029 Neurotrans-gated_channel_TM
IPR018000 Neurotransmitter_ion_chnl_CS

The PANTHER Classification System

More...PANTHERi		PTHR18945 PTHR18945, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00253 GABAARECEPTR
PR01620 GABAARGAMMA
PR01622 GABAARGAMMA2
PR00252 NRIONCHANNEL

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00860 LIC, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 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>Sequences (3+)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 3 <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 3 described isoforms and 19 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P18507-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
MSSPNIWSTG SSVYSTPVFS QKMTVWILLL LSLYPGFTSQ KSDDDYEDYA 
        60         70         80         90        100
SNKTWVLTPK VPEGDVTVIL NNLLEGYDNK LRPDIGVKPT LIHTDMYVNS 
       110        120        130        140        150
IGPVNAINME YTIDIFFAQT WYDRRLKFNS TIKVLRLNSN MVGKIWIPDT 
       160        170        180        190        200
FFRNSKKADA HWITTPNRML RIWNDGRVLY TLRLTIDAEC QLQLHNFPMD 
       210        220        230        240        250
EHSCPLEFSS YGYPREEIVY QWKRSSVEVG DTRSWRLYQF SFVGLRNTTE 
       260        270        280        290        300
VVKTTSGDYV VMSVYFDLSR RMGYFTIQTY IPCTLIVVLS WVSFWINKDA 
       310        320        330        340        350
VPARTSLGIT TVLTMTTLST IARKSLPKVS YVTAMDLFVS VCFIFVFSAL 
       360        370        380        390        400
VEYGTLHYFV SNRKPSKDKD KKKKNPAPTI DIRPRSATIQ MNNATHLQER 
       410        420        430        440        450
DEEYGYECLD GKDCASFFCC FEDCRTGAWR HGRIHIRIAK MDSYARIFFP 
       460 
TAFCLFNLVY WVSYLYL
Length:467
Mass (Da):54,162
Last modified:October 17, 2006 - v2
<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:i7450DFE1157C9224
GO
Isoform 2 (identifier: P18507-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     376-376: P → PLLRMFSFK

Show »
Length:475
Mass (Da):55,186
Checksum:iDE142F62846576DF
GO
Isoform 3 (identifier: P18507-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     211-211: Y → WSRSIAQAGMCSGVISAHYSLRFWGSTDPPTLASRVAGISD
     376-376: P → PLLRMFSFK

Note: No experimental confirmation available.
Show »
Length:515
Mass (Da):59,344
Checksum:iC450709F7B8F9DD1
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 19 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PPN5A0A1W2PPN5_HUMAN
Gamma-aminobutyric acid receptor su...
GABRG2
385Annotation score:

Annotation score:2 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>
A0A1W2PQX1A0A1W2PQX1_HUMAN
Gamma-aminobutyric acid receptor su...
GABRG2
397Annotation score:

Annotation score:2 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>
A0A1W2PRN4A0A1W2PRN4_HUMAN
Gamma-aminobutyric acid receptor su...
GABRG2
453Annotation score:

Annotation score:2 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>
A0A1W2PPS4A0A1W2PPS4_HUMAN
Gamma-aminobutyric acid receptor su...
GABRG2
385Annotation score:

Annotation score:2 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>
A0A1X7SBS5A0A1X7SBS5_HUMAN
Gamma-aminobutyric acid receptor su...
GABRG2
476Annotation score:

Annotation score:2 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>
A0A286YFI6A0A286YFI6_HUMAN
Gamma-aminobutyric acid receptor su...
GABRG2
498Annotation score:

Annotation score:2 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>
A0A1X7SBZ8A0A1X7SBZ8_HUMAN
Gamma-aminobutyric acid receptor su...
GABRG2
507Annotation score:

Annotation score:2 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>
A0A1W2PR49A0A1W2PR49_HUMAN
Gamma-aminobutyric acid receptor su...
GABRG2
445Annotation score:

Annotation score:2 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>
A8MWU7A8MWU7_HUMAN
Gamma-aminobutyric acid receptor su...
GABRG2
372Annotation score:

Annotation score:2 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>
A0A1W2PSF4A0A1W2PSF4_HUMAN
Gamma-aminobutyric acid receptor su...
GABRG2
380Annotation score:

Annotation score:2 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>
There are more potential isoformsShow all

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 conflicti120T → M in CAA33437 (PubMed:2538761).Curated1
Sequence conflicti181T → S in CAA33437 (PubMed:2538761).Curated1
Sequence conflicti384 – 385Missing no nucleotide entry (PubMed:8382267).Curated2
Sequence conflicti399E → D no nucleotide entry (PubMed:8382267).Curated1
Sequence conflicti438 – 439IA → RI no nucleotide entry (PubMed:8382267).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06522679N → S Found in a patient with generalized tonic-clonic seizures. 1 PublicationCorresponds to variant dbSNP:rs112894280Ensembl.1
Natural variantiVAR_01426582R → Q in ECA2 and FEB8; abolishes in vitro sensitivity to diazepam. 1 PublicationCorresponds to variant dbSNP:rs121909673EnsemblClinVar.1
Natural variantiVAR_07181383P → S Found in a patient with idiopathic generalized epilepsy; unknown pathological significance; the currents elicited by mutant receptors are indistinguishable from wild-type; no difference in sensitivity of the mutant receptors to the allosteric regulators zinc and benzodiazepine diazepam compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs587777365EnsemblClinVar.1
Natural variantiVAR_038602177R → G in FEB8. 1 PublicationCorresponds to variant dbSNP:rs267606837EnsemblClinVar.1
Natural variantiVAR_078226274Y → C Probable disease-associated mutation found in a patient with generalized epilepsy with myoclonic atonic seizures, cognitive impairment and behavioral disorder. 1 Publication1
Natural variantiVAR_078620323R → Q in GEFS+3. 1 PublicationCorresponds to variant dbSNP:rs397514737EnsemblClinVar.1
Natural variantiVAR_014266328K → M in GEFS+3. 1 PublicationCorresponds to variant dbSNP:rs121909672Ensembl.1
Natural variantiVAR_065163357H → R1 PublicationCorresponds to variant dbSNP:rs17855003Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_047323211Y → WSRSIAQAGMCSGVISAHYS LRFWGSTDPPTLASRVAGIS D in isoform 3. Curated1
Alternative sequenceiVSP_041124376P → PLLRMFSFK in isoform 2 and isoform 3. 1 Publication1

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
X15376 mRNA Translation: CAA33437.1
AF165124 Genomic DNA Translation: AAD50273.1
AC008611 Genomic DNA No translation available.
AC091926 Genomic DNA No translation available.
AC091984 Genomic DNA No translation available.
BC059389 mRNA Translation: AAH59389.1
BC069348 mRNA Translation: AAH69348.1
BC074795 mRNA Translation: AAH74795.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4358.1 [P18507-1]
CCDS4359.1 [P18507-2]
CCDS47333.1 [P18507-3]

Protein sequence database of the Protein Information Resource

More...PIRi		S03905

NCBI Reference Sequences

More...RefSeqi		NP_000807.2, NM_000816.3 [P18507-1]
NP_944493.2, NM_198903.2 [P18507-3]
NP_944494.1, NM_198904.2 [P18507-2]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.7195

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000414552; ENSP00000410732; ENSG00000113327 [P18507-3]
ENST00000639111; ENSP00000492125; ENSG00000113327 [P18507-2]
ENST00000639213; ENSP00000491909; ENSG00000113327 [P18507-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2566

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2566

UCSC genome browser

More...UCSCi		uc003lyy.5 human [P18507-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X15376 mRNA Translation: CAA33437.1
AF165124 Genomic DNA Translation: AAD50273.1
AC008611 Genomic DNA No translation available.
AC091926 Genomic DNA No translation available.
AC091984 Genomic DNA No translation available.
BC059389 mRNA Translation: AAH59389.1
BC069348 mRNA Translation: AAH69348.1
BC074795 mRNA Translation: AAH74795.1
CCDSiCCDS4358.1 [P18507-1]
CCDS4359.1 [P18507-2]
CCDS47333.1 [P18507-3]
PIRiS03905
RefSeqiNP_000807.2, NM_000816.3 [P18507-1]
NP_944493.2, NM_198903.2 [P18507-3]
NP_944494.1, NM_198904.2 [P18507-2]
UniGeneiHs.7195

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
6D6Telectron microscopy3.80E8-326[»]
6D6Uelectron microscopy3.80E40-361[»]
E439-467[»]
ProteinModelPortaliP18507
SMRiP18507
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108840, 15 interactors
ComplexPortaliCPX-2159 GABA-A receptor, alpha-1/beta-2/gamma-2
CPX-2164 GABA-A receptor, alpha-6/beta-3/gamma-2
CPX-2166 GABA-A receptor, alpha-3/beta-3/gamma-2
CPX-2167 GABA-A receptor, alpha-1/beta-3/gamma-2
CPX-2168 GABA-A receptor, alpha-5/beta-3/gamma-2
CPX-2174 GABA-A receptor, alpha-2/beta-3/gamma-2
CORUMiP18507
IntActiP18507, 1 interactor

Chemistry databases

BindingDBiP18507
ChEMBLiCHEMBL2111392
DrugBankiDB00659 Acamprosate
DB00546 Adinazolam
DB06579 Adipiplon
DB00404 Alprazolam
DB00543 Amoxapine
DB01558 Bromazepam
DB00237 Butabarbital
DB00241 Butalbital
DB00475 Chlordiazepoxide
DB01594 Cinolazepam
DB00349 Clobazam
DB01068 Clonazepam
DB00628 Clorazepate
DB01559 Clotiazepam
DB01189 Desflurane
DB00829 Diazepam
DB00228 Enflurane
DB01049 Ergoloid mesylate
DB01215 Estazolam
DB00402 Eszopiclone
DB00189 Ethchlorvynol
DB00292 Etomidate
DB01567 Fludiazepam
DB01205 Flumazenil
DB00690 Flurazepam
DB01381 Ginkgo biloba
DB01437 Glutethimide
DB00801 Halazepam
DB01159 Halothane
DB00753 Isoflurane
DB00186 Lorazepam
DB00371 Meprobamate
DB00463 Metharbital
DB01028 Methoxyflurane
DB01107 Methyprylon
DB00683 Midazolam
DB01595 Nitrazepam
DB00334 Olanzapine
DB00842 Oxazepam
DB00312 Pentobarbital
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00818 Propofol
DB01589 Quazepam
DB01236 Sevoflurane
DB00306 Talbutal
DB00231 Temazepam
DB11582 Thiocolchicoside
DB00273 Topiramate
DB00897 Triazolam

Protein family/group databases

TCDBi1.A.9.5.4 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

PTM databases

iPTMnetiP18507
PhosphoSitePlusiP18507
SwissPalmiP18507

Polymorphism and mutation databases

BioMutaiGABRG2
DMDMi116242488

Proteomic databases

EPDiP18507
PeptideAtlasiP18507
PRIDEiP18507
ProteomicsDBi53569
53570 [P18507-2]
TopDownProteomicsiP18507-2 [P18507-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000414552; ENSP00000410732; ENSG00000113327 [P18507-3]
ENST00000639111; ENSP00000492125; ENSG00000113327 [P18507-2]
ENST00000639213; ENSP00000491909; ENSG00000113327 [P18507-1]
GeneIDi2566
KEGGihsa:2566
UCSCiuc003lyy.5 human [P18507-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2566
DisGeNETi2566
EuPathDBiHostDB:ENSG00000113327.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		GABRG2
HGNCiHGNC:4087 GABRG2
HPAiCAB079060
MalaCardsiGABRG2
MIMi137164 gene
604233 phenotype
607681 phenotype
611277 phenotype
neXtProtiNX_P18507
OpenTargetsiENSG00000113327
Orphaneti64280 Childhood absence epilepsy
33069 Dravet syndrome
36387 Generalized epilepsy with febrile seizures-plus
1945 Rolandic epilepsy
PharmGKBiPA28501

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

GeneTreeiENSGT00940000156685
HOGENOMiHOG000231337
HOVERGENiHBG051707
InParanoidiP18507
KOiK05186
OMAiLTPKVHE
OrthoDBiEOG091G0805
PhylomeDBiP18507
TreeFamiTF315453

Enzyme and pathway databases

ReactomeiR-HSA-977441 GABA A receptor activation
R-HSA-977443 GABA receptor activation

Miscellaneous databases

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

More...ChiTaRSi		GABRG2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GABRG2

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

More...GenomeRNAii		2566

Protein Ontology

More...PROi		PR:P18507

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000113327 Expressed in 92 organ(s), highest expression level in middle temporal gyrus
CleanExiHS_GABRG2
ExpressionAtlasiP18507 baseline and differential
GenevisibleiP18507 HS

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006028 GABAA/Glycine_rcpt
IPR005439 GABBAg2_rcpt
IPR005437 GABBAg_rcpt
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
IPR006029 Neurotrans-gated_channel_TM
IPR018000 Neurotransmitter_ion_chnl_CS
PANTHERiPTHR18945 PTHR18945, 1 hit
PfamiView protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit
PRINTSiPR00253 GABAARECEPTR
PR01620 GABAARGAMMA
PR01622 GABAARGAMMA2
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit
TIGRFAMsiTIGR00860 LIC, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 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 nameiGBRG2_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: P18507
Secondary accession number(s): F5HB82
, Q6GRL6, Q6PCC3, Q9UDB3, Q9UN15
<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, 1990
Last sequence update: October 17, 2006
Last modified: December 5, 2018
This is version 201 of the entry and version 2 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  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
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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