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Entry version 174 (02 Jun 2021)
Sequence version 2 (16 Dec 2008)
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Protein

Multiple epidermal growth factor-like domains protein 8

Gene

MEGF8

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

Acts as a negative regulator of hedgehog signaling.

By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<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

LigandCalcium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q7Z7M0

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

More...
SignaLinki
Q7Z7M0

<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:
Multiple epidermal growth factor-like domains protein 8
Short name:
Multiple EGF-like domains protein 8
Alternative name(s):
Epidermal growth factor-like protein 4
Short name:
EGF-like protein 4
<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:MEGF8
Synonyms:C19orf49, EGFL4, KIAA0817
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3233, MEGF8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604267, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7Z7M0

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000105429.12

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini28 – 2647ExtracellularSequence analysisAdd BLAST2620
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei2648 – 2668HelicalSequence analysisAdd BLAST21
Topological domaini2669 – 2845CytoplasmicSequence analysisAdd BLAST177

Keywords - Cellular componenti

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

<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

Carpenter syndrome 2 (CRPT2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease.
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_069305199G → R in CRPT2. 1 Publication1
Natural variantiVAR_0693061566R → H in CRPT2. 1 PublicationCorresponds to variant dbSNP:rs397515427EnsemblClinVar.1
Natural variantiVAR_0693072434S → G in CRPT2. 1 PublicationCorresponds to variant dbSNP:rs397515428EnsemblClinVar.1

Keywords - Diseasei

Craniosynostosis, Disease variant

Organism-specific databases

DisGeNET

More...
DisGeNETi
1954

MalaCards human disease database

More...
MalaCardsi
MEGF8
MIMi614976, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000105429

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

More...
Orphaneti
65759, Carpenter syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27666

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q7Z7M0, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MEGF8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
218511690

<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 – 27Sequence analysisAdd BLAST27
<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_000005562928 – 2845Multiple epidermal growth factor-like domains protein 8Add BLAST2818

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 bondi30 ↔ 57By similarity
<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>Glycosylationi50N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi142 ↔ 152By similarity
Disulfide bondi146 ↔ 158By similarity
Disulfide bondi174 ↔ 184By similarity
Disulfide bondi178 ↔ 191By similarity
Disulfide bondi193 ↔ 202By similarity
Glycosylationi217N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1048N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1078 ↔ 1091By similarity
Disulfide bondi1085 ↔ 1100By similarity
Disulfide bondi1102 ↔ 1114By similarity
Disulfide bondi1163 ↔ 1171By similarity
Disulfide bondi1165 ↔ 1179By similarity
Disulfide bondi1182 ↔ 1191By similarity
Disulfide bondi1194 ↔ 1208By similarity
Disulfide bondi1211 ↔ 1224By similarity
Disulfide bondi1213 ↔ 1231By similarity
Disulfide bondi1233 ↔ 1242By similarity
Disulfide bondi1245 ↔ 1259By similarity
Disulfide bondi1263 ↔ 1302By similarity
Glycosylationi1271N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi1336 ↔ 1367By similarity
<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 residuei1353PhosphothreonineBy similarity1
Disulfide bondi1407 ↔ 1421By similarity
Disulfide bondi1415 ↔ 1433By similarity
Disulfide bondi1435 ↔ 1444By similarity
Glycosylationi2066N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2182 ↔ 2195By similarity
Disulfide bondi2189 ↔ 2204By similarity
Glycosylationi2229N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi2253 ↔ 2261By similarity
Disulfide bondi2255 ↔ 2270By similarity
Disulfide bondi2273 ↔ 2282By similarity
Disulfide bondi2285 ↔ 2299By similarity
Disulfide bondi2380 ↔ 2389By similarity
Disulfide bondi2382 ↔ 2397By similarity
Disulfide bondi2399 ↔ 2424By similarity
Disulfide bondi2427 ↔ 2441By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q7Z7M0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q7Z7M0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q7Z7M0

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

More...
PaxDbi
Q7Z7M0

PeptideAtlas

More...
PeptideAtlasi
Q7Z7M0

PRoteomics IDEntifications database

More...
PRIDEi
Q7Z7M0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
69567 [Q7Z7M0-1]
69568 [Q7Z7M0-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1959, 13 N-Linked glycans (5 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q7Z7M0, 14 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7Z7M0

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

More...
PhosphoSitePlusi
Q7Z7M0

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000105429, Expressed in tendon of biceps brachii and 220 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q7Z7M0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q7Z7M0, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000105429, 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 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
108274, 16 interactors

Protein interaction database and analysis system

More...
IntActi
Q7Z7M0, 14 interactors

Molecular INTeraction database

More...
MINTi
Q7Z7M0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000251268

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q7Z7M0, 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
Q7Z7M0

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>Domaini30 – 140CUB 1PROSITE-ProRule annotationAdd BLAST111
Domaini138 – 168EGF-like 1PROSITE-ProRule annotationAdd BLAST31
Domaini170 – 203EGF-like 2PROSITE-ProRule annotationAdd BLAST34
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati241 – 287Kelch 1Add BLAST47
Repeati290 – 338Kelch 2Add BLAST49
Repeati346 – 399Kelch 3Add BLAST54
Repeati402 – 453Kelch 4Add BLAST52
Repeati459 – 511Kelch 5Add BLAST53
Repeati525 – 575Kelch 6Add BLAST51
Domaini561 – 613PSI 1Add BLAST53
Domaini847 – 899PSI 2Add BLAST53
Domaini900 – 947PSI 3Add BLAST48
Domaini1074 – 1115EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini1163 – 1210Laminin EGF-like 1PROSITE-ProRule annotationAdd BLAST48
Domaini1211 – 1261Laminin EGF-like 2PROSITE-ProRule annotationAdd BLAST51
Domaini1263 – 1405CUB 2PROSITE-ProRule annotationAdd BLAST143
Domaini1403 – 1445EGF-like 4PROSITE-ProRule annotationAdd BLAST43
Repeati1522 – 1570Kelch 7Add BLAST49
Repeati1580 – 1626Kelch 8Add BLAST47
Repeati1632 – 1679Kelch 9Add BLAST48
Repeati1685 – 1735Kelch 10Add BLAST51
Repeati1796 – 1843Kelch 11Add BLAST48
Repeati1852 – 1898Kelch 12Add BLAST47
Domaini1876 – 1916PSI 4Add BLAST41
Domaini1924 – 1979PSI 5Add BLAST56
Domaini2060 – 2118PSI 6Add BLAST59
Domaini2120 – 2177PSI 7Add BLAST58
Domaini2178 – 2216EGF-like 5PROSITE-ProRule annotationAdd BLAST39
Domaini2253 – 2301Laminin EGF-like 3PROSITE-ProRule annotationAdd BLAST49
Domaini2380 – 2443Laminin EGF-like 4PROSITE-ProRule annotationAdd BLAST64

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>Regioni1726 – 1745DisorderedSequence analysisAdd BLAST20
Regioni2523 – 2564DisorderedSequence analysisAdd BLAST42
Regioni2817 – 2845DisorderedSequence analysisAdd BLAST29

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi2526 – 2543Pro residuesSequence analysisAdd BLAST18

Keywords - Domaini

EGF-like domain, Kelch repeat, Laminin EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1388, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160262

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_000612_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7Z7M0

Identification of Orthologs from Complete Genome Data

More...
OMAi
WMYGGLS

Database of Orthologous Groups

More...
OrthoDBi
49565at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q7Z7M0

TreeFam database of animal gene trees

More...
TreeFami
TF321873

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00041, CUB, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.120.10.80, 4 hits
2.60.120.290, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000859, CUB_dom
IPR001881, EGF-like_Ca-bd_dom
IPR000742, EGF-like_dom
IPR000152, EGF-type_Asp/Asn_hydroxyl_site
IPR018097, EGF_Ca-bd_CS
IPR024731, EGF_dom
IPR015915, Kelch-typ_b-propeller
IPR002049, Laminin_EGF
IPR002165, Plexin_repeat
IPR016201, PSI
IPR035914, Sperma_CUB_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00431, CUB, 1 hit
PF12947, EGF_3, 1 hit
PF07645, EGF_CA, 1 hit
PF00053, Laminin_EGF, 3 hits
PF01437, PSI, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00042, CUB, 1 hit
SM00181, EGF, 13 hits
SM00179, EGF_CA, 2 hits
SM00180, EGF_Lam, 4 hits
SM00423, PSI, 9 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF117281, SSF117281, 3 hits
SSF49854, SSF49854, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010, ASX_HYDROXYL, 2 hits
PS01180, CUB, 2 hits
PS00022, EGF_1, 6 hits
PS01186, EGF_2, 7 hits
PS50026, EGF_3, 4 hits
PS01187, EGF_CA, 1 hit
PS01248, EGF_LAM_1, 4 hits
PS50027, EGF_LAM_2, 4 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.

<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.<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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z7M0-1) [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
MALGKVLAMA LVLALAVLGS LSPGARAGDC KGQRQVLREA PGFVTDGAGN
60 70 80 90 100
YSVNGNCEWL IEAPSPQHRI LLDFLFLDTE CTYDYLFVYD GDSPRGPLLA
110 120 130 140 150
SLSGSTRPPP IEASSGKMLL HLFSDANYNL LGFNASFRFS LCPGGCQSHG
160 170 180 190 200
QCQPPGVCAC EPGWGGPDCG LQECSAYCGS HGTCASPLGP CRCEPGFLGR
210 220 230 240 250
ACDLHLWENQ GAGWWHNVSA RDPAFSARIG AAGAFLSPPG LLAVFGGQDL
260 270 280 290 300
NNALGDLVLY NFSANTWESW DLSPAPAARH SHVAVAWAGS LVLMGGELAD
310 320 330 340 350
GSLTNDVWAF SPLGRGHWEL LAPPASSSSG PPGLAGHAAA LVDDVWLYVS
360 370 380 390 400
GGRTPHDLFS SGLFRFRLDS TSGGYWEQVI PAGGRPPAAT GHSMVFHAPS
410 420 430 440 450
RALLVHGGHR PSTARFSVRV NSTELFHVDR HVWTTLKGRD GLQGPRERAF
460 470 480 490 500
HTASVLGNYM VVYGGNVHTH YQEEKCYEDG IFFYHLGCHQ WVSGAELAPP
510 520 530 540 550
GTPEGRAAPP SGRYSHVAAV LGGSVLLVAG GYSGRPRGDL MAYKVPPFVF
560 570 580 590 600
QAPAPDYHLD YCSMYTDHSV CSRDPECSWC QGACQAAPPP GTPLGACPAA
610 620 630 640 650
SCLGLGRLLG DCQACLAFSS PTAPPRGPGT LGWCVHNESC LPRPEQARCR
660 670 680 690 700
GEQISGTVGW WGPAPVFVTS LEACVTQSFL PGLHLLTFQQ PPNTSQPDKV
710 720 730 740 750
SIVRSTTITL TPSAETDVSL VYRGFIYPML PGGPGGPGAE DVAVWTRAQR
760 770 780 790 800
LHVLARMARG PDTENMEEVG RWVAHQEKET RRLQRPGSAR LFPLPGRDHK
810 820 830 840 850
YAVEIQGQLN GSAGPGHSEL TLLWDRTGVP GGSEISFFFL EPYRSSSCTS
860 870 880 890 900
YSSCLGCLAD QGCGWCLTSA TCHLRQGGAH CGDDGAGGSL LVLVPTLCPL
910 920 930 940 950
CEEHRDCHAC TQDPFCEWHQ STSRKGDAAC SRRGRGRGAL KSPEECPPLC
960 970 980 990 1000
SQRLTCEDCL ANSSQCAWCQ STHTCFLFAA YLARYPHGGC RGWDDSVHSE
1010 1020 1030 1040 1050
PRCRSCDGFL TCHECLQSHE CGWCGNEDNP TLGRCLQGDF SGPLGGGNCS
1060 1070 1080 1090 1100
LWVGEGLGLP VALPARWAYA RCPDVDECRL GLARCHPRAT CLNTPLSYEC
1110 1120 1130 1140 1150
HCQRGYQGDG ISHCNRTCLE DCGHGVCSGP PDFTCVCDLG WTSDLPPPTP
1160 1170 1180 1190 1200
APGPPAPRCS RDCGCSFHSH CRKRGPGFCD ECQDWTWGEH CERCRPGSFG
1210 1220 1230 1240 1250
NATGSRGCRP CQCNGHGDPR RGHCDNLSGL CFCQDHTEGA HCQLCSPGYY
1260 1270 1280 1290 1300
GDPRAGGSCF RECGGRALLT NVSSVALGSR RVGGLLPPGG GAARAGPGLS
1310 1320 1330 1340 1350
YCVWVVSATE ELQPCAPGTL CPPLTLTFSP DSSTPCTLSY VLAFDGFPRF
1360 1370 1380 1390 1400
LDTGVVQSDR SLIAAFCGQR RDRPLTVQAL SGLLVLHWEA NGSSSWGFNA
1410 1420 1430 1440 1450
SVGSARCGSG GPGSCPVPQE CVPQDGAAGA GLCRCPQGWA GPHCRMALCP
1460 1470 1480 1490 1500
ENCNAHTGAG TCNQSLGVCI CAEGFGGPDC ATKLDGGQLV WETLMDSRLS
1510 1520 1530 1540 1550
ADTASRFLHR LGHTMVDGPD ATLWMFGGLG LPQGLLGNLY RYSVSERRWT
1560 1570 1580 1590 1600
QMLAGAEDGG PGPSPRSFHA AAYVPAGRGA MYLLGGLTAG GVTRDFWVLN
1610 1620 1630 1640 1650
LTTLQWRQEK APQTVELPAV AGHTLTARRG LSLLLVGGYS PENGFNQQLL
1660 1670 1680 1690 1700
EYQLATGTWV SGAQSGTPPT GLYGHSAVYH EATDSLYVFG GFRFHVELAA
1710 1720 1730 1740 1750
PSPELYSLHC PDRTWSLLAP SQGAKRDRMR NVRGSSRGLG QVPGEQPGSW
1760 1770 1780 1790 1800
GFREVRKKMA LWAALAGTGG FLEEISPHLK EPRPRLFHAS ALLGDTMVVL
1810 1820 1830 1840 1850
GGRSDPDEFS SDVLLYQVNC NAWLLPDLTR SASVGPPMEE SVAHAVAAVG
1860 1870 1880 1890 1900
SRLYISGGFG GVALGRLLAL TLPPDPCRLL SSPEACNQSG ACTWCHGACL
1910 1920 1930 1940 1950
SGDQAHRLGC GGSPCSPMPR SPEECRRLRT CSECLARHPR TLQPGDGEAS
1960 1970 1980 1990 2000
TPRCKWCTNC PEGACIGRNG SCTSENDCRI NQREVFWAGN CSEAACGAAD
2010 2020 2030 2040 2050
CEQCTREGKC MWTRQFKRTG ETRRILSVQP TYDWTCFSHS LLNVSPMPVE
2060 2070 2080 2090 2100
SSPPLPCPTP CHLLPNCTSC LDSKGADGGW QHCVWSSSLQ QCLSPSYLPL
2110 2120 2130 2140 2150
RCMAGGCGRL LRGPESCSLG CAQATQCALC LRRPHCGWCA WGGQDGGGRC
2160 2170 2180 2190 2200
MEGGLSGPRD GLTCGRPGAS WAFLSCPPED ECANGHHDCN ETQNCHDQPH
2210 2220 2230 2240 2250
GYECSCKTGY TMDNMTGLCR PVCAQGCVNG SCVEPDHCRC HFGFVGRNCS
2260 2270 2280 2290 2300
TECRCNRHSE CAGVGARDHC LLCRNHTKGS HCEQCLPLFV GSAVGGGTCR
2310 2320 2330 2340 2350
PCHAFCRGNS HICISRKELQ MSKGEPKKYS LDPEEIENWV TEGPSEDEAV
2360 2370 2380 2390 2400
CVNCQNNSYG EKCESCLQGY FLLDGKCTKC QCNGHADTCN EQDGTGCPCQ
2410 2420 2430 2440 2450
NNTETGTCQG SSPSDRRDCY KYQCAKCRES FHGSPLGGQQ CYRLISVEQE
2460 2470 2480 2490 2500
CCLDPTSQTN CFHEPKRRAL GPGRTVLFGV QPKFTNVDIR LTLDVTFGAV
2510 2520 2530 2540 2550
DLYVSTSYDT FVVRVAPDTG VHTVHIQPPP APPPPPPPAD GGPRGAGDPG
2560 2570 2580 2590 2600
GAGASSGPGA PAEPRVREVW PRGLITYVTV TEPSAVLVVR GVRDRLVITY
2610 2620 2630 2640 2650
PHEHHALKSS RFYLLLLGVG DPSGPGANGS ADSQGLLFFR QDQAHIDLFV
2660 2670 2680 2690 2700
FFSVFFSCFF LFLSLCVLLW KAKQALDQRQ EQRRHLQEMT KMASRPFAKV
2710 2720 2730 2740 2750
TVCFPPDPTA PASAWKPAGL PPPAFRRSEP FLAPLLLTGA GGPWGPMGGG
2760 2770 2780 2790 2800
CCPPAIPATT AGLRAGPITL EPTEDGMAGV ATLLLQLPGG PHAPNGACLG
2810 2820 2830 2840
SALVTLRHRL HEYCGGGGGA GGSGHGTGAG RKGLLSQDNL TSMSL
Length:2,845
Mass (Da):303,100
Last modified:December 16, 2008 - 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:iDDBF0EE07511587D
GO
Isoform 2 (identifier: Q7Z7M0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     700-766: Missing.

Show »
Length:2,778
Mass (Da):295,934
Checksum:i73F2F7537697D450
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GZG7F5GZG7_HUMAN
Multiple epidermal growth factor-li...
MEGF8
439Annotation 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>
M0QZL2M0QZL2_HUMAN
Multiple epidermal growth factor-li...
MEGF8
178Annotation 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>
M0R0Q0M0R0Q0_HUMAN
Multiple epidermal growth factor-li...
MEGF8
70Annotation 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 AAP35084 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAA32469 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069305199G → R in CRPT2. 1 Publication1
Natural variantiVAR_0693061566R → H in CRPT2. 1 PublicationCorresponds to variant dbSNP:rs397515427EnsemblClinVar.1
Natural variantiVAR_0693072434S → G in CRPT2. 1 PublicationCorresponds to variant dbSNP:rs397515428EnsemblClinVar.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_036067700 – 766Missing in isoform 2. 2 PublicationsAdd BLAST67

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
AB011541 mRNA Translation: BAA32469.2 Different initiation.
AC011497 Genomic DNA No translation available.
AC024078 Genomic DNA No translation available.
BC153880 mRNA Translation: AAI53881.1
AY280362 mRNA Translation: AAP35084.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12604.2 [Q7Z7M0-2]
CCDS62693.1 [Q7Z7M0-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T00209

NCBI Reference Sequences

More...
RefSeqi
NP_001258867.1, NM_001271938.1 [Q7Z7M0-1]
NP_001401.2, NM_001410.2 [Q7Z7M0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000251268; ENSP00000251268; ENSG00000105429 [Q7Z7M0-1]
ENST00000334370; ENSP00000334219; ENSG00000105429 [Q7Z7M0-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1954

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1954

UCSC genome browser

More...
UCSCi
uc002otl.4, human [Q7Z7M0-1]

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
AB011541 mRNA Translation: BAA32469.2 Different initiation.
AC011497 Genomic DNA No translation available.
AC024078 Genomic DNA No translation available.
BC153880 mRNA Translation: AAI53881.1
AY280362 mRNA Translation: AAP35084.1 Different initiation.
CCDSiCCDS12604.2 [Q7Z7M0-2]
CCDS62693.1 [Q7Z7M0-1]
PIRiT00209
RefSeqiNP_001258867.1, NM_001271938.1 [Q7Z7M0-1]
NP_001401.2, NM_001410.2 [Q7Z7M0-2]

3D structure databases

SMRiQ7Z7M0
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi108274, 16 interactors
IntActiQ7Z7M0, 14 interactors
MINTiQ7Z7M0
STRINGi9606.ENSP00000251268

PTM databases

GlyConnecti1959, 13 N-Linked glycans (5 sites)
GlyGeniQ7Z7M0, 14 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
iPTMnetiQ7Z7M0
PhosphoSitePlusiQ7Z7M0

Genetic variation databases

BioMutaiMEGF8
DMDMi218511690

Proteomic databases

EPDiQ7Z7M0
jPOSTiQ7Z7M0
MassIVEiQ7Z7M0
PaxDbiQ7Z7M0
PeptideAtlasiQ7Z7M0
PRIDEiQ7Z7M0
ProteomicsDBi69567 [Q7Z7M0-1]
69568 [Q7Z7M0-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
58360, 103 antibodies

The DNASU plasmid repository

More...
DNASUi
1954

Genome annotation databases

EnsembliENST00000251268; ENSP00000251268; ENSG00000105429 [Q7Z7M0-1]
ENST00000334370; ENSP00000334219; ENSG00000105429 [Q7Z7M0-2]
GeneIDi1954
KEGGihsa:1954
UCSCiuc002otl.4, human [Q7Z7M0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1954
DisGeNETi1954

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MEGF8
HGNCiHGNC:3233, MEGF8
HPAiENSG00000105429, Low tissue specificity
MalaCardsiMEGF8
MIMi604267, gene
614976, phenotype
neXtProtiNX_Q7Z7M0
OpenTargetsiENSG00000105429
Orphaneti65759, Carpenter syndrome
PharmGKBiPA27666
VEuPathDBiHostDB:ENSG00000105429.12

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1388, Eukaryota
GeneTreeiENSGT00940000160262
HOGENOMiCLU_000612_0_0_1
InParanoidiQ7Z7M0
OMAiWMYGGLS
OrthoDBi49565at2759
PhylomeDBiQ7Z7M0
TreeFamiTF321873

Enzyme and pathway databases

PathwayCommonsiQ7Z7M0
SignaLinkiQ7Z7M0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
1954, 8 hits in 996 CRISPR screens

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

More...
ChiTaRSi
MEGF8, human

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

More...
GenomeRNAii
1954
PharosiQ7Z7M0, Tbio

Protein Ontology

More...
PROi
PR:Q7Z7M0
RNActiQ7Z7M0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000105429, Expressed in tendon of biceps brachii and 220 other tissues
ExpressionAtlasiQ7Z7M0, baseline and differential
GenevisibleiQ7Z7M0, HS

Family and domain databases

CDDicd00041, CUB, 1 hit
Gene3Di2.120.10.80, 4 hits
2.60.120.290, 1 hit
InterProiView protein in InterPro
IPR000859, CUB_dom
IPR001881, EGF-like_Ca-bd_dom
IPR000742, EGF-like_dom
IPR000152, EGF-type_Asp/Asn_hydroxyl_site
IPR018097, EGF_Ca-bd_CS
IPR024731, EGF_dom
IPR015915, Kelch-typ_b-propeller
IPR002049, Laminin_EGF
IPR002165, Plexin_repeat
IPR016201, PSI
IPR035914, Sperma_CUB_dom_sf
PfamiView protein in Pfam
PF00431, CUB, 1 hit
PF12947, EGF_3, 1 hit
PF07645, EGF_CA, 1 hit
PF00053, Laminin_EGF, 3 hits
PF01437, PSI, 1 hit
SMARTiView protein in SMART
SM00042, CUB, 1 hit
SM00181, EGF, 13 hits
SM00179, EGF_CA, 2 hits
SM00180, EGF_Lam, 4 hits
SM00423, PSI, 9 hits
SUPFAMiSSF117281, SSF117281, 3 hits
SSF49854, SSF49854, 1 hit
PROSITEiView protein in PROSITE
PS00010, ASX_HYDROXYL, 2 hits
PS01180, CUB, 2 hits
PS00022, EGF_1, 6 hits
PS01186, EGF_2, 7 hits
PS50026, EGF_3, 4 hits
PS01187, EGF_CA, 1 hit
PS01248, EGF_LAM_1, 4 hits
PS50027, EGF_LAM_2, 4 hits

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 nameiMEGF8_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: Q7Z7M0
Secondary accession number(s): A8KAY0, O75097
<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: December 16, 2008
Last modified: June 2, 2021
This is version 174 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 19
    Human chromosome 19: 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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