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UniProtKB - P47869 (GBRA2_HUMAN)

Entry version 192 (07 Apr 2021)
Sequence version 2 (20 Feb 2007)
Previous versions | rss
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Protein

Gamma-aminobutyric acid receptor subunit alpha-2

Gene

GABRA2

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

Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:29961870, PubMed:31032849). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:29961870, PubMed:31032849). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha2/beta2/gamma2 receptor exhibits synaptogenic activity whereas the alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity).By similarity2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by pentobarbital (By similarity). Inhibited by the antagonist bicuculline (By similarity).By similarity

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

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, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport
LigandChloride

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P47869

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-977443, GABA receptor activation

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.9.5.2, 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%5Fand%5Ftaxonomy%5Fsection">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 alpha-2
Alternative name(s):
GABA(A) receptor subunit alpha-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:GABRA2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 4

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:4076, GABRA2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		137140, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P47869

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000151834.15

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 domaini29 – 251ExtracellularCuratedAdd BLAST223
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei252 – 273HelicalCuratedAdd BLAST22
Transmembranei279 – 300HelicalCuratedAdd BLAST22
Transmembranei313 – 334HelicalCuratedAdd BLAST22
Topological domaini335 – 419CytoplasmicCuratedAdd BLAST85
Transmembranei420 – 441HelicalCuratedAdd BLAST22

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

Developmental and epileptic encephalopathy 78 (DEE78)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE78 is an autosomal dominant form characterized by onset of refractory seizures in the first days or months of life. Clinical features include severe developmental delay, hypotonia, microcephaly, cortical visual impairment and profound intellectual disability. Some patients manifest a less severe phenotype characterized by pharmacoresponsive epilepsy, autism spectrum disorder and moderate intellectual disability.
Related information in OMIM
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_083186263M → T in DEE78; impaired GABA-gated chloride ion channel activity. 1 Publication1
Natural variantiVAR_083187284V → A in DEE78; impaired GABA-gated chloride ion channel activity. 1 Publication1
Natural variantiVAR_083188291L → V in DEE78; impaired GABA-gated chloride ion channel activity. 1 Publication1
Natural variantiVAR_083189292T → K in DEE78; impaired GABA-gated chloride ion channel activity. 1 Publication1
Natural variantiVAR_083190325F → L in DEE78; impaired GABA-gated chloride ion channel activity. 1 Publication1
Natural variantiVAR_083191335N → H in DEE78; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease variant, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		2555

MalaCards human disease database

More...MalaCardsi		GABRA2
MIMi103780, phenotype
618557, phenotype

Open Targets

More...OpenTargetsi		ENSG00000151834

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

More...Orphaneti		442835, Undetermined early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28490

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P47869, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4956

Drug and drug target database

More...DrugBanki		DB00659, Acamprosate
DB00546, Adinazolam
DB06579, Adipiplon
DB00404, Alprazolam
DB01351, Amobarbital
DB00543, Amoxapine
DB11901, Apalutamide
DB01352, Aprobarbital
DB13994, AZD-7325
DB01483, Barbital
DB14719, Bentazepam
DB12537, Benzodiazepine
DB11859, Brexanolone
DB01558, Bromazepam
DB09017, Brotizolam
DB00237, Butabarbital
DB00241, Butalbital
DB01353, Butobarbital
DB01489, Camazepam
DB00475, Chlordiazepoxide
DB14715, Cinazepam
DB01594, Cinolazepam
DB00349, Clobazam
DB01068, Clonazepam
DB00628, Clorazepic acid
DB01559, Clotiazepam
DB01553, Cloxazolam
DB01511, Delorazepam
DB01189, Desflurane
DB00829, Diazepam
DB01496, Dihydro-2-thioxo-5-((5-(2-(trifluoromethyl)phenyl)-2-furanyl)methyl)-4,6(1H,5H)-pyrimidinedione
DB13837, Doxefazepam
DB00228, Enflurane
DB01215, Estazolam
DB00402, Eszopiclone
DB00898, Ethanol
DB00189, Ethchlorvynol
DB01545, Ethyl loflazepate
DB09166, Etizolam
DB00292, Etomidate
DB01567, Fludiazepam
DB01205, Flumazenil
DB01544, Flunitrazepam
DB00690, Flurazepam
DB05087, Ganaxolone
DB01437, Glutethimide
DB00801, Halazepam
DB01159, Halothane
DB01354, Heptabarbital
DB01355, Hexobarbital
DB00753, Isoflurane
DB01587, Ketazolam
DB00555, Lamotrigine
DB13643, Loprazolam
DB00186, Lorazepam
DB13872, Lormetazepam
DB13437, Medazepam
DB00603, Medroxyprogesterone acetate
DB01043, Memantine
DB00371, Meprobamate
DB00463, Metharbital
DB01028, Methoxyflurane
DB00849, Methylphenobarbital
DB01107, Methyprylon
DB15489, Mexazolam
DB00683, Midazolam
DB01595, Nitrazepam
DB14028, Nordazepam
DB00334, Olanzapine
DB00842, Oxazepam
DB14672, Oxazepam acetate
DB04903, Pagoclone
DB00312, Pentobarbital
DB00252, Phenytoin
DB13335, Pinazepam
DB01708, Prasterone
DB01588, Prazepam
DB00794, Primidone
DB00818, Propofol
DB01589, Quazepam
DB01346, Quinidine barbiturate
DB12404, Remimazolam
DB00418, Secobarbital
DB01236, Sevoflurane
DB09118, Stiripentol
DB00306, Talbutal
DB01956, Taurine
DB00231, Temazepam
DB11582, Thiocolchicoside
DB00599, Thiopental
DB00897, Triazolam
DB00425, Zolpidem
DB01198, Zopiclone

DrugCentral

More...DrugCentrali		P47869

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		405

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GABRA2

Domain mapping of disease mutations (DMDM)

More...DMDMi		126302547

<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 – 28Sequence analysisAdd BLAST28
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000043329 – 451Gamma-aminobutyric acid receptor subunit alpha-2Add BLAST423

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi38N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi138N-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 bondi166 ↔ 180By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P47869

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

More...PaxDbi		P47869

PeptideAtlas

More...PeptideAtlasi		P47869

PRoteomics IDEntifications database

More...PRIDEi		P47869

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55800 [P47869-1]
6330

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P47869, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P47869

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

More...PhosphoSitePlusi		P47869

<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		ENSG00000151834, Expressed in amygdala and 153 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P47869, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P47869, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000151834, Tissue enriched (brain)

<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%5Fsection">'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%5Fsection">'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.

Interacts with UBQLN1 (By similarity).

Interacts with KIF21B (By similarity).

Interacts with LHFPL4 (By similarity).

Interacts with SHISA7; interaction leads to the regulation of GABA(A) receptor trafficking, channel deactivation kinetics and pharmacology (By similarity).

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108829, 3 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-2174, GABA-A receptor, alpha-2/beta-3/gamma-2

Protein interaction database and analysis system

More...IntActi		P47869, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000421828

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P47869

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P47869, protein

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

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The extracellular domain contributes to synaptic contact formation.By similarity

<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. GABRA2 sub-subfamily. [View classification]Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3642, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157266

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_010920_2_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P47869

Identification of Orthologs from Complete Genome Data

More...OMAi		AXSITEV

Database of Orthologous Groups

More...OrthoDBi		1057372at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P47869

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
IPR001390, GABAAa_rcpt
IPR005432, GABBAa2_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
PTHR18945:SF218, PTHR18945:SF218, 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		PR01079, GABAARALPHA
PR01615, GABAARALPHA2
PR00253, GABAARECEPTR
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%5Flength">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P47869-1) [UniParc]FASTAAdd to basket

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
MKTKLNIYNM QFLLFVFLVW DPARLVLANI QEDEAKNNIT IFTRILDRLL 
        60         70         80         90        100
DGYDNRLRPG LGDSITEVFT NIYVTSFGPV SDTDMEYTID VFFRQKWKDE 
       110        120        130        140        150
RLKFKGPMNI LRLNNLMASK IWTPDTFFHN GKKSVAHNMT MPNKLLRIQD 
       160        170        180        190        200
DGTLLYTMRL TVQAECPMHL EDFPMDAHSC PLKFGSYAYT TSEVTYIWTY 
       210        220        230        240        250
NASDSVQVAP DGSRLNQYDL LGQSIGKETI KSSTGEYTVM TAHFHLKRKI 
       260        270        280        290        300
GYFVIQTYLP CIMTVILSQV SFWLNRESVP ARTVFGVTTV LTMTTLSISA 
       310        320        330        340        350
RNSLPKVAYA TAMDWFIAVC YAFVFSALIE FATVNYFTKR GWAWDGKSVV 
       360        370        380        390        400
NDKKKEKASV MIQNNAYAVA VANYAPNLSK DPVLSTISKS ATTPEPNKKP 
       410        420        430        440        450
ENKPAEAKKT FNSVSKIDRM SRIVFPVLFG TFNLVYWATY LNREPVLGVS 

P
Length:451
Mass (Da):51,326
Last modified:February 20, 2007 - 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:i43F9F708B5A00FFD
GO
Isoform 2 (identifier: P47869-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-85: MKTKLNIYNM...SFGPVSDTDM → MRLKITLPSLREFLTDFWMVTIIGLDQDWE
     353-353: K → KSPSIKAEGITLTYNSVKAILQGAKLIWSKYIAFSWPSLFQEKTLEYLEKWMDCLTFKQSS

Show »
Length:456
Mass (Da):52,064
Checksum:i040306CCB7836206
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PBQ7E9PBQ7_HUMAN
GABA(A) receptor subunit alpha-2
GABRA2
511Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G5E9Z6G5E9Z6_HUMAN
GABA(A) receptor subunit alpha-2
GABRA2 hCG_15318
367Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0A0MTM5A0A0A0MTM5_HUMAN
GABA(A) receptor subunit alpha-2
GABRA2
427Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RB77D6RB77_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA2
151Annotation 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>
D6RBK9D6RBK9_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA2
159Annotation 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>
D6RBL7D6RBL7_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA2
137Annotation 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>
D6RAA9D6RAA9_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA2
73Annotation 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>
D6RCS5D6RCS5_HUMAN
Gamma-aminobutyric acid A receptor ...
GABRA2
66Annotation 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>
H0Y9V8H0Y9V8_HUMAN
Gamma-aminobutyric acid receptor su...
GABRA2
56Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAD92532 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti10 – 11MQ → IE in AAB27278 (PubMed:8391122).Curated2
Sequence conflicti343A → T in AAB27278 (PubMed:8391122).Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in GABRA2 determine the genetic susceptibility to alcoholism [MIMi:103780].

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083186263M → T in DEE78; impaired GABA-gated chloride ion channel activity. 1 Publication1
Natural variantiVAR_083187284V → A in DEE78; impaired GABA-gated chloride ion channel activity. 1 Publication1
Natural variantiVAR_083188291L → V in DEE78; impaired GABA-gated chloride ion channel activity. 1 Publication1
Natural variantiVAR_083189292T → K in DEE78; impaired GABA-gated chloride ion channel activity. 1 Publication1
Natural variantiVAR_083190325F → L in DEE78; impaired GABA-gated chloride ion channel activity. 1 Publication1
Natural variantiVAR_083191335N → H in DEE78; unknown pathological significance. 1 Publication1
Natural variantiVAR_083192377N → K Found in a patient with epilepsy; unknown pathological significance. 1 Publication1

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_0542771 – 85MKTKL…SDTDM → MRLKITLPSLREFLTDFWMV TIIGLDQDWE in isoform 2. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_054278353K → KSPSIKAEGITLTYNSVKAI LQGAKLIWSKYIAFSWPSLF QEKTLEYLEKWMDCLTFKQS S in isoform 2. 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
S62907 mRNA Translation: AAB27278.1
AK125179 mRNA Translation: BAG54159.1
AK289662 mRNA Translation: BAF82351.1
AK293466 mRNA Translation: BAH11514.1
AB209295 mRNA Translation: BAD92532.1 Different initiation.
AC084352 Genomic DNA No translation available.
AC093745 Genomic DNA No translation available.
AC095060 Genomic DNA No translation available.
AC104072 Genomic DNA No translation available.
CH471069 Genomic DNA Translation: EAW93022.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3471.1 [P47869-1]

Protein sequence database of the Protein Information Resource

More...PIRi		I57947

NCBI Reference Sequences

More...RefSeqi		NP_000798.2, NM_000807.3 [P47869-1]
NP_001107647.1, NM_001114175.2 [P47869-1]
NP_001273756.1, NM_001286827.2 [P47869-2]
NP_001317619.1, NM_001330690.1
XP_016863471.1, XM_017007982.1
XP_016863472.1, XM_017007983.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000356504; ENSP00000348897; ENSG00000151834 [P47869-1]
ENST00000381620; ENSP00000371033; ENSG00000151834 [P47869-1]
ENST00000510861; ENSP00000421828; ENSG00000151834 [P47869-1]
ENST00000514090; ENSP00000421300; ENSG00000151834 [P47869-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2555

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2555

UCSC genome browser

More...UCSCi		uc003gxc.5, human [P47869-1]

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%5Freferences%5Fsection">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
S62907 mRNA Translation: AAB27278.1
AK125179 mRNA Translation: BAG54159.1
AK289662 mRNA Translation: BAF82351.1
AK293466 mRNA Translation: BAH11514.1
AB209295 mRNA Translation: BAD92532.1 Different initiation.
AC084352 Genomic DNA No translation available.
AC093745 Genomic DNA No translation available.
AC095060 Genomic DNA No translation available.
AC104072 Genomic DNA No translation available.
CH471069 Genomic DNA Translation: EAW93022.1
CCDSiCCDS3471.1 [P47869-1]
PIRiI57947
RefSeqiNP_000798.2, NM_000807.3 [P47869-1]
NP_001107647.1, NM_001114175.2 [P47869-1]
NP_001273756.1, NM_001286827.2 [P47869-2]
NP_001317619.1, NM_001330690.1
XP_016863471.1, XM_017007982.1
XP_016863472.1, XM_017007983.1

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi108829, 3 interactors
ComplexPortaliCPX-2174, GABA-A receptor, alpha-2/beta-3/gamma-2
IntActiP47869, 2 interactors
STRINGi9606.ENSP00000421828

Chemistry databases

BindingDBiP47869
ChEMBLiCHEMBL4956
DrugBankiDB00659, Acamprosate
DB00546, Adinazolam
DB06579, Adipiplon
DB00404, Alprazolam
DB01351, Amobarbital
DB00543, Amoxapine
DB11901, Apalutamide
DB01352, Aprobarbital
DB13994, AZD-7325
DB01483, Barbital
DB14719, Bentazepam
DB12537, Benzodiazepine
DB11859, Brexanolone
DB01558, Bromazepam
DB09017, Brotizolam
DB00237, Butabarbital
DB00241, Butalbital
DB01353, Butobarbital
DB01489, Camazepam
DB00475, Chlordiazepoxide
DB14715, Cinazepam
DB01594, Cinolazepam
DB00349, Clobazam
DB01068, Clonazepam
DB00628, Clorazepic acid
DB01559, Clotiazepam
DB01553, Cloxazolam
DB01511, Delorazepam
DB01189, Desflurane
DB00829, Diazepam
DB01496, Dihydro-2-thioxo-5-((5-(2-(trifluoromethyl)phenyl)-2-furanyl)methyl)-4,6(1H,5H)-pyrimidinedione
DB13837, Doxefazepam
DB00228, Enflurane
DB01215, Estazolam
DB00402, Eszopiclone
DB00898, Ethanol
DB00189, Ethchlorvynol
DB01545, Ethyl loflazepate
DB09166, Etizolam
DB00292, Etomidate
DB01567, Fludiazepam
DB01205, Flumazenil
DB01544, Flunitrazepam
DB00690, Flurazepam
DB05087, Ganaxolone
DB01437, Glutethimide
DB00801, Halazepam
DB01159, Halothane
DB01354, Heptabarbital
DB01355, Hexobarbital
DB00753, Isoflurane
DB01587, Ketazolam
DB00555, Lamotrigine
DB13643, Loprazolam
DB00186, Lorazepam
DB13872, Lormetazepam
DB13437, Medazepam
DB00603, Medroxyprogesterone acetate
DB01043, Memantine
DB00371, Meprobamate
DB00463, Metharbital
DB01028, Methoxyflurane
DB00849, Methylphenobarbital
DB01107, Methyprylon
DB15489, Mexazolam
DB00683, Midazolam
DB01595, Nitrazepam
DB14028, Nordazepam
DB00334, Olanzapine
DB00842, Oxazepam
DB14672, Oxazepam acetate
DB04903, Pagoclone
DB00312, Pentobarbital
DB00252, Phenytoin
DB13335, Pinazepam
DB01708, Prasterone
DB01588, Prazepam
DB00794, Primidone
DB00818, Propofol
DB01589, Quazepam
DB01346, Quinidine barbiturate
DB12404, Remimazolam
DB00418, Secobarbital
DB01236, Sevoflurane
DB09118, Stiripentol
DB00306, Talbutal
DB01956, Taurine
DB00231, Temazepam
DB11582, Thiocolchicoside
DB00599, Thiopental
DB00897, Triazolam
DB00425, Zolpidem
DB01198, Zopiclone
DrugCentraliP47869
GuidetoPHARMACOLOGYi405

Protein family/group databases

TCDBi1.A.9.5.2, the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

PTM databases

GlyGeniP47869, 2 sites
iPTMnetiP47869
PhosphoSitePlusiP47869

Genetic variation databases

BioMutaiGABRA2
DMDMi126302547

Proteomic databases

MassIVEiP47869
PaxDbiP47869
PeptideAtlasiP47869
PRIDEiP47869
ProteomicsDBi55800 [P47869-1]
6330

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		12030, 336 antibodies

Genome annotation databases

EnsembliENST00000356504; ENSP00000348897; ENSG00000151834 [P47869-1]
ENST00000381620; ENSP00000371033; ENSG00000151834 [P47869-1]
ENST00000510861; ENSP00000421828; ENSG00000151834 [P47869-1]
ENST00000514090; ENSP00000421300; ENSG00000151834 [P47869-1]
GeneIDi2555
KEGGihsa:2555
UCSCiuc003gxc.5, human [P47869-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2555
DisGeNETi2555

GeneCards: human genes, protein and diseases

More...GeneCardsi		GABRA2
HGNCiHGNC:4076, GABRA2
HPAiENSG00000151834, Tissue enriched (brain)
MalaCardsiGABRA2
MIMi103780, phenotype
137140, gene
618557, phenotype
neXtProtiNX_P47869
OpenTargetsiENSG00000151834
Orphaneti442835, Undetermined early-onset epileptic encephalopathy
PharmGKBiPA28490
VEuPathDBiHostDB:ENSG00000151834.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3642, Eukaryota
GeneTreeiENSGT00940000157266
HOGENOMiCLU_010920_2_1_1
InParanoidiP47869
OMAiAXSITEV
OrthoDBi1057372at2759
PhylomeDBiP47869
TreeFamiTF315453

Enzyme and pathway databases

PathwayCommonsiP47869
ReactomeiR-HSA-977443, GABA receptor activation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2555, 4 hits in 986 CRISPR screens

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

More...ChiTaRSi		GABRA2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GABRA2

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

More...GenomeRNAii		2555
PharosiP47869, Tclin

Protein Ontology

More...PROi		PR:P47869
RNActiP47869, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000151834, Expressed in amygdala and 153 other tissues
ExpressionAtlasiP47869, baseline and differential
GenevisibleiP47869, HS

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006028, GABAA/Glycine_rcpt
IPR001390, GABAAa_rcpt
IPR005432, GABBAa2_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
PTHR18945:SF218, PTHR18945:SF218, 1 hit
PfamiView protein in Pfam
PF02931, Neur_chan_LBD, 1 hit
PF02932, Neur_chan_memb, 1 hit
PRINTSiPR01079, GABAARALPHA
PR01615, GABAARALPHA2
PR00253, GABAARECEPTR
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...

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 nameiGBRA2_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: P47869
Secondary accession number(s): A8K0U7, B7Z1H8, Q59G14
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 20, 2007
Last modified: April 7, 2021
This is version 192 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

Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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