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UniProtKB - Q9UNF1 (MAGD2_HUMAN)

Entry version 178 (07 Apr 2021)
Sequence version 2 (26 Sep 2001)
Previous versions | rss
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Protein

Melanoma-associated antigen D2

Gene

MAGED2

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

Regulates the expression, localization to the plasma membrane and function of the sodium chloride cotransporters SLC12A1 and SLC12A3, two key components of salt reabsorption in the distal renal tubule.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 - 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 functionTumor antigen

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9UNF1

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-114608, Platelet degranulation

<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:
Melanoma-associated antigen D2
Alternative name(s):
11B6
Breast cancer-associated gene 1 protein
Short name:
BCG-1
Hepatocellular carcinoma-associated protein JCL-1
MAGE-D2 antigen
<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:MAGED2
Synonyms:BCG1
<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 X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:16353, MAGED2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300470, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UNF1

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000102316.16

<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

<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

Bartter syndrome 5, antenatal, transient (BARTS5)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age.
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_076836446R → C in BARTS5; loss of interaction with GNAS. 1 PublicationCorresponds to variant dbSNP:rs878854407EnsemblClinVar.1
Natural variantiVAR_076837488 – 491Missing in BARTS5. 1 Publication4

Keywords - Diseasei

Bartter syndrome, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		10916

MalaCards human disease database

More...MalaCardsi		MAGED2
MIMi300971, phenotype

Open Targets

More...OpenTargetsi		ENSG00000102316

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

More...Orphaneti		93604, Antenatal Bartter syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30560

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UNF1, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MAGED2

Domain mapping of disease mutations (DMDM)

More...DMDMi		17380153

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<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_00001567272 – 606Melanoma-associated antigen D2Add BLAST605

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 residuei2N-acetylserineCombined sources1 Publication1
Modified residuei5PhosphoserineCombined sources1
Modified residuei72PhosphothreonineCombined sources1
Modified residuei157PhosphoserineCombined sources1
Modified residuei190PhosphoserineCombined sources1
Modified residuei191PhosphoserineCombined sources1
Modified residuei194PhosphoserineCombined sources1
Modified residuei197PhosphoserineCombined sources1
Modified residuei244PhosphoserineCombined sources1
Modified residuei247PhosphoserineCombined sources1
Modified residuei264PhosphoserineCombined sources1
Modified residuei265PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UNF1

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UNF1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UNF1

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

More...PaxDbi		Q9UNF1

PeptideAtlas

More...PeptideAtlasi		Q9UNF1

PRoteomics IDEntifications database

More...PRIDEi		Q9UNF1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		85286 [Q9UNF1-1]
85287 [Q9UNF1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UNF1

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q9UNF1

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

More...PhosphoSitePlusi		Q9UNF1

<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

Widely expressed. In the developing and adult kidney, expressed in the thick ascending limb of the loop of Henle and the distal convoluted tubules outside the loop.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000102316, Expressed in right ovary and 235 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UNF1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UNF1, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000102316, Low tissue specificity

<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 with GNAS. May interact with DNAJB1.

1 Publication

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116121, 143 interactors

Database of interacting proteins

More...DIPi		DIP-50722N

Protein interaction database and analysis system

More...IntActi		Q9UNF1, 52 interactors

Molecular INTeraction database

More...MINTi		Q9UNF1

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000364209

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9UNF1, 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

3D structure databases

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

More...SMRi		Q9UNF1

Database of comparative protein structure models

More...ModBasei		Search...

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

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>Domaini279 – 478MAGEPROSITE-ProRule annotationAdd BLAST200

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 biasi215 – 258Arg-richAdd BLAST44

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4562, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161795

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UNF1

Identification of Orthologs from Complete Genome Data

More...OMAi		IDKSDHL

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UNF1

TreeFam database of animal gene trees

More...TreeFami		TF352132

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.10.1200, 1 hit
1.10.10.1210, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR037445, MAGE
IPR041898, MAGE_WH1
IPR041899, MAGE_WH2
IPR028810, MAGED2
IPR002190, MHD_dom

The PANTHER Classification System

More...PANTHERi		PTHR11736, PTHR11736, 1 hit
PTHR11736:SF11, PTHR11736:SF11, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01454, MAGE, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01373, MAGE, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50838, MAGE, 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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UNF1-1) [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
MSDTSESGAG LTRFQAEASE KDSSSMMQTL LTVTQNVEVP ETPKASKALE 
        60         70         80         90        100
VSEDVKVSKA SGVSKATEVS KTPEAREAPA TQASSTTQLT DTQVLAAENK 
       110        120        130        140        150
SLAADTKKQN ADPQAVTMPA TETKKVSHVA DTKVNTKAQE TEAAPSQAPA 
       160        170        180        190        200
DEPEPESAAA QSQENQDTRP KVKAKKARKV KHLDGEEDGS SDQSQASGTT 
       210        220        230        240        250
GGRRVSKALM ASMARRASRG PIAFWARRAS RTRLAAWARR ALLSLRSPKA 
       260        270        280        290        300
RRGKARRRAA KLQSSQEPEA PPPRDVALLQ GRANDLVKYL LAKDQTKIPI 
       310        320        330        340        350
KRSDMLKDII KEYTDVYPEI IERAGYSLEK VFGIQLKEID KNDHLYILLS 
       360        370        380        390        400
TLEPTDAGIL GTTKDSPKLG LLMVLLSIIF MNGNRSSEAV IWEVLRKLGL 
       410        420        430        440        450
RPGIHHSLFG DVKKLITDEF VKQKYLDYAR VPNSNPPEYE FFWGLRSYYE 
       460        470        480        490        500
TSKMKVLKFA CKVQKKDPKE WAAQYREAME ADLKAAAEAA AEAKARAEIR 
       510        520        530        540        550
ARMGIGLGSE NAAGPCNWDE ADIGPWAKAR IQAGAEAKAK AQESGSASTG 
       560        570        580        590        600
ASTSTNNSAS ASASTSGGFS AGASLTATLT FGLFAGLGGA GASTSGSSGA 

CGFSYK
Length:606
Mass (Da):64,954
Last modified:September 26, 2001 - 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:i352FD5BAF5088652
GO
Isoform 2 (identifier: Q9UNF1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     45-62: Missing.

Show »
Length:588
Mass (Da):63,167
Checksum:iAF568E2B27C5765B
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5H909Q5H909_HUMAN
Melanoma-associated antigen D2
MAGED2
588Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5H907Q5H907_HUMAN
Melanoma antigen family D, 2, isofo...
MAGED2 hCG_18665
521Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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 conflicti73P → S in AAD00728 (Ref. 3) Curated1
Sequence conflicti377S → C in BAC03896 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053508187E → D. Corresponds to variant dbSNP:rs12014977EnsemblClinVar.1
Natural variantiVAR_011639266Q → R1 PublicationCorresponds to variant dbSNP:rs1021000890Ensembl.1
Natural variantiVAR_076836446R → C in BARTS5; loss of interaction with GNAS. 1 PublicationCorresponds to variant dbSNP:rs878854407EnsemblClinVar.1
Natural variantiVAR_036584458K → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_076837488 – 491Missing in BARTS5. 1 Publication4

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_00803045 – 62Missing in isoform 2. 1 PublicationAdd BLAST18

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
AF128527 mRNA Translation: AAD33392.1
AF128528 mRNA Translation: AAD33393.1
AF126181 mRNA Translation: AAD28598.1
AJ293618 mRNA Translation: CAC19410.1
U92544 mRNA Translation: AAD00728.1
AF320070 mRNA Translation: AAG35066.2
AK092463 mRNA Translation: BAC03896.1
Z98046 Genomic DNA No translation available.
CH471154 Genomic DNA Translation: EAW93189.1
BC000304 mRNA Translation: AAH00304.1
BC091503 mRNA Translation: AAH91503.1
AF148815 mRNA Translation: AAF73137.1
AF320907 mRNA Translation: AAG38603.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14362.1 [Q9UNF1-1]

NCBI Reference Sequences

More...RefSeqi		NP_055414.2, NM_014599.5 [Q9UNF1-1]
NP_803182.1, NM_177433.2 [Q9UNF1-1]
NP_957516.1, NM_201222.2 [Q9UNF1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000218439; ENSP00000218439; ENSG00000102316 [Q9UNF1-1]
ENST00000375053; ENSP00000364193; ENSG00000102316 [Q9UNF1-1]
ENST00000375058; ENSP00000364198; ENSG00000102316 [Q9UNF1-1]
ENST00000375068; ENSP00000364209; ENSG00000102316 [Q9UNF1-1]
ENST00000396224; ENSP00000379526; ENSG00000102316 [Q9UNF1-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10916

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10916

UCSC genome browser

More...UCSCi		uc004dtk.3, human [Q9UNF1-1]

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
AF128527 mRNA Translation: AAD33392.1
AF128528 mRNA Translation: AAD33393.1
AF126181 mRNA Translation: AAD28598.1
AJ293618 mRNA Translation: CAC19410.1
U92544 mRNA Translation: AAD00728.1
AF320070 mRNA Translation: AAG35066.2
AK092463 mRNA Translation: BAC03896.1
Z98046 Genomic DNA No translation available.
CH471154 Genomic DNA Translation: EAW93189.1
BC000304 mRNA Translation: AAH00304.1
BC091503 mRNA Translation: AAH91503.1
AF148815 mRNA Translation: AAF73137.1
AF320907 mRNA Translation: AAG38603.1
CCDSiCCDS14362.1 [Q9UNF1-1]
RefSeqiNP_055414.2, NM_014599.5 [Q9UNF1-1]
NP_803182.1, NM_177433.2 [Q9UNF1-1]
NP_957516.1, NM_201222.2 [Q9UNF1-1]

3D structure databases

SMRiQ9UNF1
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi116121, 143 interactors
DIPiDIP-50722N
IntActiQ9UNF1, 52 interactors
MINTiQ9UNF1
STRINGi9606.ENSP00000364209

PTM databases

iPTMnetiQ9UNF1
MetOSiteiQ9UNF1
PhosphoSitePlusiQ9UNF1

Genetic variation databases

BioMutaiMAGED2
DMDMi17380153

Proteomic databases

EPDiQ9UNF1
jPOSTiQ9UNF1
MassIVEiQ9UNF1
PaxDbiQ9UNF1
PeptideAtlasiQ9UNF1
PRIDEiQ9UNF1
ProteomicsDBi85286 [Q9UNF1-1]
85287 [Q9UNF1-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26825, 209 antibodies

The DNASU plasmid repository

More...DNASUi		10916

Genome annotation databases

EnsembliENST00000218439; ENSP00000218439; ENSG00000102316 [Q9UNF1-1]
ENST00000375053; ENSP00000364193; ENSG00000102316 [Q9UNF1-1]
ENST00000375058; ENSP00000364198; ENSG00000102316 [Q9UNF1-1]
ENST00000375068; ENSP00000364209; ENSG00000102316 [Q9UNF1-1]
ENST00000396224; ENSP00000379526; ENSG00000102316 [Q9UNF1-1]
GeneIDi10916
KEGGihsa:10916
UCSCiuc004dtk.3, human [Q9UNF1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10916
DisGeNETi10916

GeneCards: human genes, protein and diseases

More...GeneCardsi		MAGED2
HGNCiHGNC:16353, MAGED2
HPAiENSG00000102316, Low tissue specificity
MalaCardsiMAGED2
MIMi300470, gene
300971, phenotype
neXtProtiNX_Q9UNF1
OpenTargetsiENSG00000102316
Orphaneti93604, Antenatal Bartter syndrome
PharmGKBiPA30560
VEuPathDBiHostDB:ENSG00000102316.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4562, Eukaryota
GeneTreeiENSGT00940000161795
InParanoidiQ9UNF1
OMAiIDKSDHL
PhylomeDBiQ9UNF1
TreeFamiTF352132

Enzyme and pathway databases

PathwayCommonsiQ9UNF1
ReactomeiR-HSA-114608, Platelet degranulation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10916, 2 hits in 624 CRISPR screens

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

More...ChiTaRSi		MAGED2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MAGED2

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

More...GenomeRNAii		10916
PharosiQ9UNF1, Tbio

Protein Ontology

More...PROi		PR:Q9UNF1
RNActiQ9UNF1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000102316, Expressed in right ovary and 235 other tissues
ExpressionAtlasiQ9UNF1, baseline and differential
GenevisibleiQ9UNF1, HS

Family and domain databases

Gene3Di1.10.10.1200, 1 hit
1.10.10.1210, 1 hit
InterProiView protein in InterPro
IPR037445, MAGE
IPR041898, MAGE_WH1
IPR041899, MAGE_WH2
IPR028810, MAGED2
IPR002190, MHD_dom
PANTHERiPTHR11736, PTHR11736, 1 hit
PTHR11736:SF11, PTHR11736:SF11, 1 hit
PfamiView protein in Pfam
PF01454, MAGE, 1 hit
SMARTiView protein in SMART
SM01373, MAGE, 1 hit
PROSITEiView protein in PROSITE
PS50838, MAGE, 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 nameiMAGD2_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: Q9UNF1
Secondary accession number(s): A6NMX0
, O76058, Q5BJF3, Q8NAL6, Q9H218, Q9P0U9, Q9UM52
<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: September 26, 2001
Last sequence update: September 26, 2001
Last modified: April 7, 2021
This is version 178 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

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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
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