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UniProtKB - Q7Z553 (MDGA2_HUMAN)

Entry version 167 (23 Feb 2022)
Sequence version 2 (13 Apr 2004)
Previous versions | rss
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Protein

MAM domain-containing glycosylphosphatidylinositol anchor protein 2

Gene

MDGA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 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

May be involved in cell-cell interactions.

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 - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q7Z553

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-163125, Post-translational modification: synthesis of GPI-anchored proteins

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q7Z553

<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:
MAM domain-containing glycosylphosphatidylinositol anchor protein 2
Alternative name(s):
MAM domain-containing protein 1
<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:MDGA2
Synonyms:MAMDC1
ORF Names:UNQ8188/PRO23197
<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 14

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:19835, MDGA2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611128, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q7Z553

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000139915

<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>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>Keywords - Cellular componenti

Cell membrane, Membrane

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		161357

Open Targets

More...OpenTargetsi		ENSG00000139915

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162395090

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q7Z553, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MDGA2

Domain mapping of disease mutations (DMDM)

More...DMDMi		46403175

<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 – 25Sequence analysisAdd BLAST25
<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_000001485926 – 931MAM domain-containing glycosylphosphatidylinositol anchor protein 2Add BLAST906
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_0000292043932 – 956Removed in mature formSequence analysisAdd BLAST25

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 bondi62 ↔ 110PROSITE-ProRule annotation
<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>Glycosylationi92N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi159 ↔ 216PROSITE-ProRule annotation
Glycosylationi213N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi237N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi264 ↔ 310PROSITE-ProRule annotation
Disulfide bondi359 ↔ 417PROSITE-ProRule annotation
Glycosylationi434N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi443N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi465 ↔ 515PROSITE-ProRule annotation
Glycosylationi504N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi561 ↔ 611PROSITE-ProRule annotation
Glycosylationi610N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi703N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi931GPI-anchor amidated aspartateSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q7Z553

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q7Z553

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

More...PaxDbi		Q7Z553

PeptideAtlas

More...PeptideAtlasi		Q7Z553

PRoteomics IDEntifications database

More...PRIDEi		Q7Z553

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		69257 [Q7Z553-1]
69258 [Q7Z553-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q7Z553, 8 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q7Z553

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

More...PhosphoSitePlusi		Q7Z553

<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

Detected in Leydig cells, syncytiotrophoblast, duodenal villi epithelial cells and neutrophils from kidney and cutaneous squamous cell carcinoma (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000139915, Expressed in corpus callosum and 88 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q7Z553, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q7Z553, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000139915, Group enriched (brain, retina, testis)

<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 (through the Ig-like domains) with NLGN2.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		127785, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000382178

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q7Z553, 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		Q7Z553

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>Domaini27 – 127Ig-like 1Add BLAST101
Domaini134 – 232Ig-like 2Add BLAST99
Domaini242 – 328Ig-like 3Add BLAST87
Domaini340 – 436Ig-like 4Add BLAST97
Domaini442 – 533Ig-like 5Add BLAST92
Domaini540 – 627Ig-like 6Add BLAST88
Domaini638 – 739Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST102
Domaini746 – 921MAMPROSITE-ProRule annotationAdd BLAST176

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QSMD, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155369

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_014908_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q7Z553

Identification of Orthologs from Complete Genome Data

More...OMAi		HKDETEY

Database of Orthologous Groups

More...OrthoDBi		118847at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q7Z553

TreeFam database of animal gene trees

More...TreeFami		TF330345

Family and domain databases

Conserved Domains Database

More...CDDi		cd06263, MAM, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 7 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR013320, ConA-like_dom_sf
IPR003961, FN3_dom
IPR036116, FN3_sf
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR013098, Ig_I-set
IPR003599, Ig_sub
IPR003598, Ig_sub2
IPR000998, MAM_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07679, I-set, 1 hit
PF00629, MAM, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00409, IG, 6 hits
SM00408, IGc2, 6 hits
SM00137, MAM, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48726, SSF48726, 6 hits
SSF49265, SSF49265, 1 hit
SSF49899, SSF49899, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50853, FN3, 1 hit
PS50835, IG_LIKE, 6 hits
PS50060, MAM_2, 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 (3+)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 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z553-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MDLLYGLVWL LTVLLEGISG QGVYAPPTVR IVHSGLACNI EEERYSERVY 
        60         70         80         90        100
TIREGETLEL TCLVTGHPRP QIRWTKTAGS ASDRFQDSSV FNETLRITNI 
       110        120        130        140        150
QRHQGGRYYC KAENGLGSPA IKSIRVDVYY LDDPVVTVHQ SIGEAKEQFY 
       160        170        180        190        200
YERTVFLRCV ANSNPPVRYS WRRGQEVLLQ GSDKGVEIYE PFFTQGETKI 
       210        220        230        240        250
LKLKNLRPQD YANYSCIASV RNVCNIPDKM VSFRLSNKTA SPSIKLLVDD 
       260        270        280        290        300
PIVVNPGEAI TLVCVTTGGE PAPSLTWVRS FGTLPEKTVL NGGTLTIPAI 
       310        320        330        340        350
TSDDAGTYSC IANNNVGNPA KKSTNIIVRA LKKGRFWITP DPYHKDDNIQ 
       360        370        380        390        400
IGREVKISCQ VEAVPSEELT FSWFKNGRPL RSSERMVITQ TDPDVSPGTT 
       410        420        430        440        450
NLDIIDLKFT DFGTYTCVAS LKGGGISDIS IDVNISSSTV PPNLTVPQEK 
       460        470        480        490        500
SPLVTREGDT IELQCQVTGK PKPIILWSRA DKEVAMPDGS MQMESYDGTL 
       510        520        530        540        550
RIVNVSREMS GMYRCQTSQY NGFNVKPREA LVQLIVQYPP AVEPAFLEIR 
       560        570        580        590        600
QGQDRSVTMS CRVLRAYPIR VLTYEWRLGN KLLRTGQFDS QEYTEYAVKS 
       610        620        630        640        650
LSNENYGVYN CSIINEAGAG RCSFLVTGKA YAPEFYYDTY NPVWQNRHRV 
       660        670        680        690        700
YSYSLQWTQM NPDAVDRIVA YRLGIRQAGQ QRWWEQEIKI NGNIQKGELI 
       710        720        730        740        750
TYNLTELIKP EAYEVRLTPL TKFGEGDSTI RVIKYSAPVN PHLREFHCGF 
       760        770        780        790        800
EDGNICLFTQ DDTDNFDWTK QSTATRNTKY TPNTGPNADR SGSKEGFYMY 
       810        820        830        840        850
IETSRPRLEG EKARLLSPVF SIAPKNPYGP TNTAYCFSFF YHMYGQHIGV 
       860        870        880        890        900
LNVYLRLKGQ TTIENPLWSS SGNKGQRWNE AHVNIYPITS FQLIFEGIRG 
       910        920        930        940        950
PGIEGDIAID DVSIAEGECA KQDLATKNSV DGAVGILVHI WLFPIIVLIS 

ILSPRR
Length:956
Mass (Da):107,436
Last modified:April 13, 2004 - 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:i6B70534BD35489B9
GO
Isoform 2 (identifier: Q7Z553-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-229: Missing.

Show »
Length:727
Mass (Da):81,364
Checksum:i24465F56F955F261
GO
Isoform 3 (identifier: Q7Z553-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSVWSAGLLRSARRRRRGRTDGRRFLLRRAVPGHLGLARARVERAWLAAGLLKVPLRTPWAGYVHVHVKM

Show »
Length:1,025
Mass (Da):115,310
Checksum:iFC5403A869640428
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A7D9N0L9A0A7D9N0L9_HUMAN
MAM domain-containing glycosylphosp...
MDGA2
826Annotation 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>
G3V5U0G3V5U0_HUMAN
MAM domain-containing glycosylphosp...
MDGA2
142Annotation 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>
E9PMG9E9PMG9_HUMAN
MAM domain-containing glycosylphosp...
MDGA2
250Annotation 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>
G3V5Z1G3V5Z1_HUMAN
MAM domain-containing glycosylphosp...
MDGA2
233Annotation 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>
H0YJ52H0YJ52_HUMAN
MAM domain-containing glycosylphosp...
MDGA2
253Annotation 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 AAP97010 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti19 – 24SGQGVY → EHLVIQ in AAQ88492 (PubMed:12508121).Curated6
Sequence conflicti71Missing in AAQ88492 (PubMed:12508121).Curated1
Sequence conflicti457E → Q in AK309211 (PubMed:14702039).Curated1
Sequence conflicti479R → K in AK309211 (PubMed:14702039).Curated1
Sequence conflicti504N → S in AK309211 (PubMed:14702039).Curated1
Sequence conflicti554D → N in AAQ88492 (PubMed:12508121).Curated1
Sequence conflicti930V → I in AK309211 (PubMed:14702039).Curated1
Isoform 3 (identifier: Q7Z553-3)
Sequence conflicti50G → S in AK309211 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_059400608V → F. Corresponds to variant dbSNP:rs12590500Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0424681 – 229Missing in isoform 2. CuratedAdd BLAST229
Alternative sequenceiVSP_0452401M → MSVWSAGLLRSARRRRRGRT DGRRFLLRRAVPGHLGLARA RVERAWLAAGLLKVPLRTPW AGYVHVHVKM in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AY369208 mRNA Translation: AAQ73312.1
AY358125 mRNA Translation: AAQ88492.1
AK309211 mRNA No translation available.
AL079306 Genomic DNA No translation available.
AL157792 Genomic DNA No translation available.
AL162551 Genomic DNA No translation available.
AL358832 Genomic DNA No translation available.
AL359951 Genomic DNA No translation available.
AL591771 Genomic DNA No translation available.
AY328482 mRNA Translation: AAP97010.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41948.1 [Q7Z553-2]
CCDS45098.3 [Q7Z553-3]

NCBI Reference Sequences

More...RefSeqi		NP_001106970.3, NM_001113498.2 [Q7Z553-1]
NP_878250.2, NM_182830.4 [Q7Z553-2]
XP_016876549.1, XM_017021060.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000357362; ENSP00000349925; ENSG00000139915 [Q7Z553-2]
ENST00000399232; ENSP00000382178; ENSG00000139915 [Q7Z553-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		161357

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:161357

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000399232.8; ENSP00000382178.4; NM_001113498.3; NP_001106970.4 [Q7Z553-3]

UCSC genome browser

More...UCSCi		uc001wwj.6, human [Q7Z553-1]

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
AY369208 mRNA Translation: AAQ73312.1
AY358125 mRNA Translation: AAQ88492.1
AK309211 mRNA No translation available.
AL079306 Genomic DNA No translation available.
AL157792 Genomic DNA No translation available.
AL162551 Genomic DNA No translation available.
AL358832 Genomic DNA No translation available.
AL359951 Genomic DNA No translation available.
AL591771 Genomic DNA No translation available.
AY328482 mRNA Translation: AAP97010.1 Different initiation.
CCDSiCCDS41948.1 [Q7Z553-2]
CCDS45098.3 [Q7Z553-3]
RefSeqiNP_001106970.3, NM_001113498.2 [Q7Z553-1]
NP_878250.2, NM_182830.4 [Q7Z553-2]
XP_016876549.1, XM_017021060.1

3D structure databases

SMRiQ7Z553
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi127785, 2 interactors
STRINGi9606.ENSP00000382178

PTM databases

GlyGeniQ7Z553, 8 sites
iPTMnetiQ7Z553
PhosphoSitePlusiQ7Z553

Genetic variation databases

BioMutaiMDGA2
DMDMi46403175

Proteomic databases

jPOSTiQ7Z553
MassIVEiQ7Z553
PaxDbiQ7Z553
PeptideAtlasiQ7Z553
PRIDEiQ7Z553
ProteomicsDBi69257 [Q7Z553-1]
69258 [Q7Z553-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		162, 86 antibodies from 17 providers

The DNASU plasmid repository

More...DNASUi		161357

Genome annotation databases

EnsembliENST00000357362; ENSP00000349925; ENSG00000139915 [Q7Z553-2]
ENST00000399232; ENSP00000382178; ENSG00000139915 [Q7Z553-3]
GeneIDi161357
KEGGihsa:161357
MANE-SelectiENST00000399232.8; ENSP00000382178.4; NM_001113498.3; NP_001106970.4 [Q7Z553-3]
UCSCiuc001wwj.6, human [Q7Z553-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		161357
DisGeNETi161357

GeneCards: human genes, protein and diseases

More...GeneCardsi		MDGA2
HGNCiHGNC:19835, MDGA2
HPAiENSG00000139915, Group enriched (brain, retina, testis)
MIMi611128, gene
neXtProtiNX_Q7Z553
OpenTargetsiENSG00000139915
PharmGKBiPA162395090
VEuPathDBiHostDB:ENSG00000139915

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QSMD, Eukaryota
GeneTreeiENSGT00940000155369
HOGENOMiCLU_014908_0_0_1
InParanoidiQ7Z553
OMAiHKDETEY
OrthoDBi118847at2759
PhylomeDBiQ7Z553
TreeFamiTF330345

Enzyme and pathway databases

PathwayCommonsiQ7Z553
ReactomeiR-HSA-163125, Post-translational modification: synthesis of GPI-anchored proteins
SIGNORiQ7Z553

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		161357, 9 hits in 1030 CRISPR screens

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

More...ChiTaRSi		MDGA2, human

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

More...GenomeRNAii		161357
PharosiQ7Z553, Tbio

Protein Ontology

More...PROi		PR:Q7Z553
RNActiQ7Z553, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000139915, Expressed in corpus callosum and 88 other tissues
ExpressionAtlasiQ7Z553, baseline and differential
GenevisibleiQ7Z553, HS

Family and domain databases

CDDicd06263, MAM, 1 hit
Gene3Di2.60.40.10, 7 hits
InterProiView protein in InterPro
IPR013320, ConA-like_dom_sf
IPR003961, FN3_dom
IPR036116, FN3_sf
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR013098, Ig_I-set
IPR003599, Ig_sub
IPR003598, Ig_sub2
IPR000998, MAM_dom
PfamiView protein in Pfam
PF07679, I-set, 1 hit
PF00629, MAM, 1 hit
SMARTiView protein in SMART
SM00409, IG, 6 hits
SM00408, IGc2, 6 hits
SM00137, MAM, 1 hit
SUPFAMiSSF48726, SSF48726, 6 hits
SSF49265, SSF49265, 1 hit
SSF49899, SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS50853, FN3, 1 hit
PS50835, IG_LIKE, 6 hits
PS50060, MAM_2, 1 hit

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 nameiMDGA2_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: Q7Z553
Secondary accession number(s): F6W3S7, J3KPX6
<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: April 13, 2004
Last sequence update: April 13, 2004
Last modified: February 23, 2022
This is version 167 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 14
    Human chromosome 14: 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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