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UniProtKB - Q86UL8 (MAGI2_HUMAN)

Entry version 180 (10 Feb 2021)
Sequence version 3 (07 Feb 2006)
Previous versions | rss
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Protein

Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2

Gene

MAGI2

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

Seems to act as scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins. May play a role in regulating activin-mediated signaling in neuronal cells. Enhances the ability of PTEN to suppress AKT1 activation. Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite outgrowth.1 Publication

<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

Biological processNeurogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q86UL8

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-373753, Nephrin family interactions

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

More...SignaLinki		Q86UL8

Protein family/group databases

Transport Classification Database

More...TCDBi		8.A.24.1.6, the ezrin/radixin/moesin-binding phosphoprotein 50 (ebp50) 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:
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
Alternative name(s):
Atrophin-1-interacting protein 1
Short name:
AIP-1
Atrophin-1-interacting protein A
Membrane-associated guanylate kinase inverted 2
Short name:
MAGI-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:MAGI2
Synonyms:ACVRINP1, AIP1, KIAA0705
<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 7

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:18957, MAGI2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606382, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q86UL8

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000187391.18

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

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

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Endosome, Membrane, Synapse, Synaptosome

<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

Nephrotic syndrome 15 (NPHS15)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS15 is an autosomal recessive form with onset in the first months of life. Disease severity is variable. Some patients show rapid progression to end-stage renal failure.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		9863

MalaCards human disease database

More...MalaCardsi		MAGI2
MIMi617609, phenotype

Open Targets

More...OpenTargetsi		ENSG00000187391

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

More...Orphaneti		656, Genetic steroid-resistant nephrotic syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671484

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q86UL8, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MAGI2

Domain mapping of disease mutations (DMDM)

More...DMDMi		88909269

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000945861 – 1455Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2Add BLAST1455

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei362PhosphotyrosineBy similarity1
Modified residuei686PhosphoserineBy similarity1
Modified residuei827PhosphotyrosineBy similarity1
Modified residuei884PhosphoserineBy similarity1
Modified residuei885PhosphoserineBy similarity1
Modified residuei1014PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q86UL8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q86UL8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q86UL8

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

More...PaxDbi		Q86UL8

PeptideAtlas

More...PeptideAtlasi		Q86UL8

PRoteomics IDEntifications database

More...PRIDEi		Q86UL8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		69831 [Q86UL8-1]
69832 [Q86UL8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q86UL8

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

More...PhosphoSitePlusi		Q86UL8

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

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

Specifically expressed in brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000187391, Expressed in metanephric glomerulus and 222 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q86UL8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q86UL8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000187391, Tissue enhanced (brain, parathyroid gland)

<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

Interacts (via its WW domains) with DRPLA (PubMed:9647693).

Interacts (via its second PDZ domain) with PTEN (via unphosphorylated C-terminus); this interaction diminishes the degradation rate of PTEN (PubMed:10760291, PubMed:11707428).

Interacts (via guanylate kinase domain) with DLGAP1 (By similarity).

Interacts (via the PDZ domains) with GRIN2A, GRID2 and NLGN1 (By similarity).

Interacts with CTNND2, CTNNB1, MAGUIN-1, ACVR2A, SMAD2 and SMAD3 (By similarity).

Part of a complex consisting of AIP1, ACVR2A, ACVR1B and SMAD3 (By similarity). May interact with HTR2A (By similarity).

Interacts with IGSF9, RAPGEF2 and HTR4 (By similarity).

Identified in a complex with ACTN4, CASK, IQGAP1, NPHS1, SPTAN1 and SPTBN1 (By similarity).

Found in a complex, at least composed of KIDINS220, MAGI2, NTRK1 and RAPGEF2; the complex is mainly formed at late endosomes in a NGF-dependent manner (By similarity).

Interacts with RAPGEF2; the interaction occurs before or after nerve growth factor (NGF) stimulation (By similarity).

Interacts (via PDZ domain) with KIDINS220 (via C-terminal domain) (By similarity).

Interacts with DDN (PubMed:16464232).

Interacts with DLL1 (By similarity).

Found in a complex with IGSF9B and NLGN2; the interaction with IGSF9B is mediated via the PDZ 5 and PDZ 6 domains, while the interaction with NLGN2 is mediated via the WW1, WW2 and PDZ2 domains (PubMed:23751499).

By similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115197, 22 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q86UL8

Protein interaction database and analysis system

More...IntActi		Q86UL8, 18 interactors

Molecular INTeraction database

More...MINTi		Q86UL8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000346151

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q86UL8, protein

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

Secondary structure

11455
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q86UL8

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q86UL8

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini17 – 101PDZ 1PROSITE-ProRule annotationAdd BLAST85
Domaini109 – 283Guanylate kinase-likePROSITE-ProRule annotationAdd BLAST175
Domaini302 – 335WW 1PROSITE-ProRule annotationAdd BLAST34
Domaini348 – 381WW 2PROSITE-ProRule annotationAdd BLAST34
Domaini426 – 510PDZ 2PROSITE-ProRule annotationAdd BLAST85
Domaini605 – 683PDZ 3PROSITE-ProRule annotationAdd BLAST79
Domaini778 – 860PDZ 4PROSITE-ProRule annotationAdd BLAST83
Domaini920 – 1010PDZ 5PROSITE-ProRule annotationAdd BLAST91
Domaini1147 – 1229PDZ 6PROSITE-ProRule annotationAdd BLAST83

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>Regioni302 – 381Interaction with DDN1 PublicationAdd BLAST80

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1015 – 1118Pro-richAdd BLAST104
Compositional biasi1340 – 1430Ala-richAdd BLAST91

<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 MAGUK family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3209, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155057

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q86UL8

Identification of Orthologs from Complete Genome Data

More...OMAi		RNGRMRX

Database of Orthologous Groups

More...OrthoDBi		284488at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q86UL8

TreeFam database of animal gene trees

More...TreeFami		TF316816

Family and domain databases

Conserved Domains Database

More...CDDi		cd00201, WW, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.42.10, 6 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008145, GK/Ca_channel_bsu
IPR008144, Guanylate_kin-like_dom
IPR020590, Guanylate_kinase_CS
IPR030036, MAGI2
IPR027417, P-loop_NTPase
IPR001478, PDZ
IPR036034, PDZ_sf
IPR001202, WW_dom
IPR036020, WW_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR10316:SF27, PTHR10316:SF27, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00625, Guanylate_kin, 1 hit
PF00595, PDZ, 6 hits
PF00397, WW, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00072, GuKc, 1 hit
SM00228, PDZ, 6 hits
SM00456, WW, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50156, SSF50156, 6 hits
SSF51045, SSF51045, 2 hits
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00856, GUANYLATE_KINASE_1, 1 hit
PS50052, GUANYLATE_KINASE_2, 1 hit
PS50106, PDZ, 6 hits
PS01159, WW_DOMAIN_1, 2 hits
PS50020, WW_DOMAIN_2, 2 hits

<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.

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 19 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q86UL8-1) [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
MSKSLKKKSH WTSKVHESVI GRNPEGQLGF ELKGGAENGQ FPYLGEVKPG 
        60         70         80         90        100
KVAYESGSKL VSEELLLEVN ETPVAGLTIR DVLAVIKHCK DPLRLKCVKQ 
       110        120        130        140        150
GGIVDKDLRH YLNLRFQKGS VDHELQQIIR DNLYLRTVPC TTRPHKEGEV 
       160        170        180        190        200
PGVDYIFITV EDFMELEKSG ALLESGTYED NYYGTPKPPA EPAPLLLNVT 
       210        220        230        240        250
DQILPGATPS AEGKRKRNKS VSNMEKASIE PPEEEEEERP VVNGNGVVVT 
       260        270        280        290        300
PESSEHEDKS AGASGEMPSQ PYPAPVYSQP EELKEQMDDT KPTKPEDNEE 
       310        320        330        340        350
PDPLPDNWEM AYTEKGEVYF IDHNTKTTSW LDPRLAKKAK PPEECKENEL 
       360        370        380        390        400
PYGWEKIDDP IYGTYYVDHI NRRTQFENPV LEAKRKLQQH NMPHTELGTK 
       410        420        430        440        450
PLQAPGFREK PLFTRDASQL KGTFLSTTLK KSNMGFGFTI IGGDEPDEFL 
       460        470        480        490        500
QVKSVIPDGP AAQDGKMETG DVIVYINEVC VLGHTHADVV KLFQSVPIGQ 
       510        520        530        540        550
SVNLVLCRGY PLPFDPEDPA NSMVPPLAIM ERPPPVMVNG RHNYETYLEY 
       560        570        580        590        600
ISRTSQSVPD ITDRPPHSLH SMPTDGQLDG TYPPPVHDDN VSMASSGATQ 
       610        620        630        640        650
AELMTLTIVK GAQGFGFTIA DSPTGQRVKQ ILDIQGCPGL CEGDLIVEIN 
       660        670        680        690        700
QQNVQNLSHT EVVDILKDCP IGSETSLIIH RGGFFSPWKT PKPIMDRWEN 
       710        720        730        740        750
QGSPQTSLSA PAIPQNLPFP PALHRSSFPD STEAFDPRKP DPYELYEKSR 
       760        770        780        790        800
AIYESRQQVP PRTSFRMDSS GPDYKELDVH LRRMESGFGF RILGGDEPGQ 
       810        820        830        840        850
PILIGAVIAM GSADRDGRLH PGDELVYVDG IPVAGKTHRY VIDLMHHAAR 
       860        870        880        890        900
NGQVNLTVRR KVLCGGEPCP ENGRSPGSVS THHSSPRSDY ATYTNSNHAA 
       910        920        930        940        950
PSSNASPPEG FASHSLQTSD VVIHRKENEG FGFVIISSLN RPESGSTITV 
       960        970        980        990       1000
PHKIGRIIDG SPADRCAKLK VGDRILAVNG QSIINMPHAD IVKLIKDAGL 
      1010       1020       1030       1040       1050
SVTLRIIPQE ELNSPTSAPS SEKQSPMAQQ SPLAQQSPLA QPSPATPNSP 
      1060       1070       1080       1090       1100
IAQPAPPQPL QLQGHENSYR SEVKARQDVK PDIRQPPFTD YRQPPLDYRQ 
      1110       1120       1130       1140       1150
PPGGDYQQPP PLDYRQPPLL DYRQHSPDTR QYPLSDYRQP QDFDYFTVDM 
      1160       1170       1180       1190       1200
EKGAKGFGFS IRGGREYKMD LYVLRLAEDG PAIRNGRMRV GDQIIEINGE 
      1210       1220       1230       1240       1250
STRDMTHARA IELIKSGGRR VRLLLKRGTG QVPEYDEPAP WSSPAAAAPG 
      1260       1270       1280       1290       1300
LPEVGVSLDD GLAPFSPSHP APPSDPSHQI SPGPTWDIKR EHDVRKPKEL 
      1310       1320       1330       1340       1350
SACGQKKQRL GEQRERSASP QRAARPRLEE APGGQGRPEA GRPASEARAP 
      1360       1370       1380       1390       1400
GLAAADAADA ARAGGKEAPR AAAGSELCRR EGPGAAPAFA GPGGGGSGAL 
      1410       1420       1430       1440       1450
EAEGRAGARA GPRPGPRPPG GAPARKAAVA PGPWKVPGSD KLPSVLKPGA 

SAASR
Length:1,455
Mass (Da):158,754
Last modified:February 7, 2006 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i93E170D070A70A9C
GO
Isoform 2 (identifier: Q86UL8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     757-771: QQVPPRTSFRMDSSG → R

Show »
Length:1,441
Mass (Da):157,236
Checksum:i505C382255497AFE
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
E7EWI0E7EWI0_HUMAN
Membrane-associated guanylate kinas...
MAGI2
1,283Annotation 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>
A0A0D9SGI1A0A0D9SGI1_HUMAN
Membrane-associated guanylate kinas...
MAGI2
1,317Annotation 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>
A0A0E3D6M1A0A0E3D6M1_HUMAN
Membrane-associated guanylate kinas...
MAGI2
1,303Annotation 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>
A0A1B0GTC0A0A1B0GTC0_HUMAN
Membrane-associated guanylate kinas...
MAGI2
1,206Annotation 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>
A0A0D9SGF8A0A0D9SGF8_HUMAN
Membrane associated guanylate kinas...
MAGI2 hCG_40263
1,106Annotation 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>
A0A0D9SET0A0A0D9SET0_HUMAN
Membrane-associated guanylate kinas...
MAGI2
555Annotation 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>
A0A0D9SEY4A0A0D9SEY4_HUMAN
Membrane-associated guanylate kinas...
MAGI2
1,120Annotation 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>
A0A0D9SEZ7A0A0D9SEZ7_HUMAN
Membrane-associated guanylate kinas...
MAGI2
238Annotation 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>
A0A0D9SGF2A0A0D9SGF2_HUMAN
Membrane-associated guanylate kinas...
MAGI2
495Annotation 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>
A0A0D9SF86A0A0D9SF86_HUMAN
Membrane-associated guanylate kinas...
MAGI2
183Annotation 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>
There are more potential isoformsShow all

<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 BAA31680 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 conflicti1234E → Q in AAC05370 (PubMed:9647693).Curated1
Sequence conflicti1250G → C in AAC05370 (PubMed:9647693).Curated1
Sequence conflicti1291E → K in AAC05370 (PubMed:9647693).Curated1
Sequence conflicti1383P → L in AAC05370 (PubMed:9647693).Curated1
Sequence conflicti1389 – 1394FAGPGG → SADPAD in AAC05370 (PubMed:9647693).Curated6
Sequence conflicti1401E → A in AAC05370 (PubMed:9647693).Curated1
Sequence conflicti1411G → A in AAC05370 (PubMed:9647693).Curated1
Sequence conflicti1414 – 1415PG → SV in AAC05370 (PubMed:9647693).Curated2
Sequence conflicti1420G → A in AAC05370 (PubMed:9647693).Curated1
Sequence conflicti1423P → A in AAC05370 (PubMed:9647693).Curated1
Sequence conflicti1426K → R in AAC05370 (PubMed:9647693).Curated1
Sequence conflicti1429V → G in AAC05370 (PubMed:9647693).Curated1
Sequence conflicti1437P → R in AAC05370 (PubMed:9647693).Curated1

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_008435757 – 771QQVPP…MDSSG → R in isoform 2. 2 PublicationsAdd BLAST15

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
AF038563 mRNA Translation: AAC05370.1
AB014605 mRNA Translation: BAA31680.2 Different initiation.
AC004808 Genomic DNA Translation: AAC23438.1
AC004945 Genomic DNA Translation: AAC61488.1
AC004990 Genomic DNA Translation: AAC79151.1
AC005246 Genomic DNA Translation: AAC25530.1
AC006043 Genomic DNA Translation: AAD15413.2
AC006324 Genomic DNA Translation: AAF66080.1
AC007237 Genomic DNA Translation: AAP21886.1
AC073200 Genomic DNA Translation: AAP22360.1
CH236949 Genomic DNA Translation: EAL24194.1
BC150277 mRNA Translation: AAI50278.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5594.1 [Q86UL8-1]
CCDS75623.1 [Q86UL8-2]

NCBI Reference Sequences

More...RefSeqi		NP_001288057.1, NM_001301128.1 [Q86UL8-2]
NP_036433.2, NM_012301.3 [Q86UL8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000354212; ENSP00000346151; ENSG00000187391 [Q86UL8-1]
ENST00000419488; ENSP00000405766; ENSG00000187391 [Q86UL8-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9863

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9863

UCSC genome browser

More...UCSCi		uc003ugx.3, human [Q86UL8-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF038563 mRNA Translation: AAC05370.1
AB014605 mRNA Translation: BAA31680.2 Different initiation.
AC004808 Genomic DNA Translation: AAC23438.1
AC004945 Genomic DNA Translation: AAC61488.1
AC004990 Genomic DNA Translation: AAC79151.1
AC005246 Genomic DNA Translation: AAC25530.1
AC006043 Genomic DNA Translation: AAD15413.2
AC006324 Genomic DNA Translation: AAF66080.1
AC007237 Genomic DNA Translation: AAP21886.1
AC073200 Genomic DNA Translation: AAP22360.1
CH236949 Genomic DNA Translation: EAL24194.1
BC150277 mRNA Translation: AAI50278.1
CCDSiCCDS5594.1 [Q86UL8-1]
CCDS75623.1 [Q86UL8-2]
RefSeqiNP_001288057.1, NM_001301128.1 [Q86UL8-2]
NP_036433.2, NM_012301.3 [Q86UL8-1]

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
1UEPNMR-A774-863[»]
1UEQNMR-A412-522[»]
1UEWNMR-A915-1015[»]
1UJVNMR-A600-682[»]
1WFVNMR-A1141-1230[»]
SMRiQ86UL8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115197, 22 interactors
CORUMiQ86UL8
IntActiQ86UL8, 18 interactors
MINTiQ86UL8
STRINGi9606.ENSP00000346151

Protein family/group databases

TCDBi8.A.24.1.6, the ezrin/radixin/moesin-binding phosphoprotein 50 (ebp50) family

PTM databases

iPTMnetiQ86UL8
PhosphoSitePlusiQ86UL8

Genetic variation databases

BioMutaiMAGI2
DMDMi88909269

Proteomic databases

jPOSTiQ86UL8
MassIVEiQ86UL8
MaxQBiQ86UL8
PaxDbiQ86UL8
PeptideAtlasiQ86UL8
PRIDEiQ86UL8
ProteomicsDBi69831 [Q86UL8-1]
69832 [Q86UL8-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2880, 230 antibodies

Genome annotation databases

EnsembliENST00000354212; ENSP00000346151; ENSG00000187391 [Q86UL8-1]
ENST00000419488; ENSP00000405766; ENSG00000187391 [Q86UL8-2]
GeneIDi9863
KEGGihsa:9863
UCSCiuc003ugx.3, human [Q86UL8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9863
DisGeNETi9863

GeneCards: human genes, protein and diseases

More...GeneCardsi		MAGI2
HGNCiHGNC:18957, MAGI2
HPAiENSG00000187391, Tissue enhanced (brain, parathyroid gland)
MalaCardsiMAGI2
MIMi606382, gene
617609, phenotype
neXtProtiNX_Q86UL8
OpenTargetsiENSG00000187391
Orphaneti656, Genetic steroid-resistant nephrotic syndrome
PharmGKBiPA142671484
VEuPathDBiHostDB:ENSG00000187391.18

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3209, Eukaryota
GeneTreeiENSGT00940000155057
InParanoidiQ86UL8
OMAiRNGRMRX
OrthoDBi284488at2759
PhylomeDBiQ86UL8
TreeFamiTF316816

Enzyme and pathway databases

PathwayCommonsiQ86UL8
ReactomeiR-HSA-373753, Nephrin family interactions
SignaLinkiQ86UL8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9863, 4 hits in 874 CRISPR screens

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

More...ChiTaRSi		MAGI2, human
EvolutionaryTraceiQ86UL8

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MAGI2

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

More...GenomeRNAii		9863
PharosiQ86UL8, Tbio

Protein Ontology

More...PROi		PR:Q86UL8
RNActiQ86UL8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000187391, Expressed in metanephric glomerulus and 222 other tissues
ExpressionAtlasiQ86UL8, baseline and differential
GenevisibleiQ86UL8, HS

Family and domain databases

CDDicd00201, WW, 2 hits
Gene3Di2.30.42.10, 6 hits
InterProiView protein in InterPro
IPR008145, GK/Ca_channel_bsu
IPR008144, Guanylate_kin-like_dom
IPR020590, Guanylate_kinase_CS
IPR030036, MAGI2
IPR027417, P-loop_NTPase
IPR001478, PDZ
IPR036034, PDZ_sf
IPR001202, WW_dom
IPR036020, WW_dom_sf
PANTHERiPTHR10316:SF27, PTHR10316:SF27, 1 hit
PfamiView protein in Pfam
PF00625, Guanylate_kin, 1 hit
PF00595, PDZ, 6 hits
PF00397, WW, 1 hit
SMARTiView protein in SMART
SM00072, GuKc, 1 hit
SM00228, PDZ, 6 hits
SM00456, WW, 2 hits
SUPFAMiSSF50156, SSF50156, 6 hits
SSF51045, SSF51045, 2 hits
SSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00856, GUANYLATE_KINASE_1, 1 hit
PS50052, GUANYLATE_KINASE_2, 1 hit
PS50106, PDZ, 6 hits
PS01159, WW_DOMAIN_1, 2 hits
PS50020, WW_DOMAIN_2, 2 hits

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 nameiMAGI2_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: Q86UL8
Secondary accession number(s): A4D1C1
, A7E2C3, O60434, O60510, Q86UI7, Q9NP44, Q9UDQ5, Q9UDU1
<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: October 3, 2003
Last sequence update: February 7, 2006
Last modified: February 10, 2021
This is version 180 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
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