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Entry version 194 (13 Feb 2019)
Sequence version 3 (20 Mar 2007)
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Protein

EGF-containing fibulin-like extracellular matrix protein 2

Gene

EFEMP2

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

<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

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2129379 Molecules associated with elastic fibres

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O95967

<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_and_taxonomy_section">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:
EGF-containing fibulin-like extracellular matrix protein 2
Alternative name(s):
Fibulin-4
Short name:
FIBL-4
Protein UPH1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:EFEMP2
Synonyms:FBLN4
ORF Names:UNQ200/PRO226
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000172638.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3219 EFEMP2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604633 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95967

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

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

Keywords - Cellular componenti

Secreted

<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

Cutis laxa, autosomal recessive, 1B (ARCL1B)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1B features include emphysema, lethal pulmonary artery occlusion, aortic aneurysm, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels.
See also OMIM:614437
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_02701957E → K in ARCL1B. 1 PublicationCorresponds to variant dbSNP:rs119489101EnsemblClinVar.1
Natural variantiVAR_067069267C → Y in ARCL1B. 1 PublicationCorresponds to variant dbSNP:rs193302866EnsemblClinVar.1
Natural variantiVAR_067070279R → C in ARCL1B. 1 PublicationCorresponds to variant dbSNP:rs119489102EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
30008

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
EFEMP2

MalaCards human disease database

More...
MalaCardsi
EFEMP2
MIMi614437 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000172638

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

More...
Orphaneti
90349 Autosomal recessive cutis laxa type 1
314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27653

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EFEMP2

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000757526 – 443EGF-containing fibulin-like extracellular matrix protein 2Add BLAST418

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 bondi58 ↔ 121PROSITE-ProRule annotation1 Publication
Disulfide bondi65 ↔ 80PROSITE-ProRule annotation1 Publication
Disulfide bondi71 ↔ 109PROSITE-ProRule annotation1 Publication
Disulfide bondi127 ↔ 140PROSITE-ProRule annotation
Disulfide bondi134 ↔ 149PROSITE-ProRule annotation
Disulfide bondi151 ↔ 162PROSITE-ProRule annotation
Disulfide bondi168 ↔ 177PROSITE-ProRule annotation
Disulfide bondi173 ↔ 186PROSITE-ProRule annotation
Disulfide bondi188 ↔ 201PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Glycosylationi198N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi207 ↔ 217PROSITE-ProRule annotation
Disulfide bondi213 ↔ 226PROSITE-ProRule annotation
Disulfide bondi228 ↔ 241PROSITE-ProRule annotation
Disulfide bondi247 ↔ 258PROSITE-ProRule annotation
Disulfide bondi254 ↔ 267PROSITE-ProRule annotation
Disulfide bondi269 ↔ 281PROSITE-ProRule annotation
Disulfide bondi287 ↔ 300PROSITE-ProRule annotation
Disulfide bondi294 ↔ 309PROSITE-ProRule annotation
Disulfide bondi315 ↔ 327PROSITE-ProRule annotation
Glycosylationi394N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O95967

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

More...
PaxDbi
O95967

PeptideAtlas

More...
PeptideAtlasi
O95967

PRoteomics IDEntifications database

More...
PRIDEi
O95967

ProteomicsDB human proteome resource

More...
ProteomicsDBi
51148

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1199

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95967

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

More...
PhosphoSitePlusi
O95967

<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
ENSG00000172638 Expressed in 230 organ(s), highest expression level in tendon of biceps brachii

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O95967 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95967 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA023270

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with FBN1 (via N-terminal domain) (PubMed:17255108).1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<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
119026, 54 interactors

Database of interacting proteins

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DIPi
DIP-34518N

Protein interaction database and analysis system

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IntActi
O95967, 160 interactors

Molecular INTeraction database

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MINTi
O95967

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000309953

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

Secondary structure

1443
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KL7NMR-A54-123[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O95967

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

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SMRi
O95967

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O95967

<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_and_domains_section">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>Domaini36 – 81EGF-like 1; atypicalPROSITE-ProRule annotationAdd BLAST46
Domaini123 – 163EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini164 – 202EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini203 – 242EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini243 – 282EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST40
Domaini283 – 328EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST46

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the fibulin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IR6U Eukaryota
ENOG410ZNNG LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159437

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000234337

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051560

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95967

KEGG Orthology (KO)

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KOi
K19866

Identification of Orthologs from Complete Genome Data

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OMAi
QECHNLP

Database of Orthologous Groups

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OrthoDBi
1174178at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O95967

TreeFam database of animal gene trees

More...
TreeFami
TF317514

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026823 cEGF
IPR026824 Efemp2
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR037287 Fibulin_3/4/5
IPR009030 Growth_fac_rcpt_cys_sf

The PANTHER Classification System

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PANTHERi
PTHR44074 PTHR44074, 1 hit
PTHR44074:SF3 PTHR44074:SF3, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF12662 cEGF, 2 hits
PF07645 EGF_CA, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00181 EGF, 5 hits
SM00179 EGF_CA, 6 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57184 SSF57184, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 4 hits
PS01186 EGF_2, 4 hits
PS50026 EGF_3, 4 hits
PS01187 EGF_CA, 6 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 has 1 described isoform and 10 potential isoforms that are computationally mapped.Show allAlign All

O95967-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLPCASCLPG SLLLWALLLL LLGSASPQDS EEPDSYTECT DGYEWDPDSQ
60 70 80 90 100
HCRDVNECLT IPEACKGEMK CINHYGGYLC LPRSAAVIND LHGEGPPPPV
110 120 130 140 150
PPAQHPNPCP PGYEPDDQDS CVDVDECAQA LHDCRPSQDC HNLPGSYQCT
160 170 180 190 200
CPDGYRKIGP ECVDIDECRY RYCQHRCVNL PGSFRCQCEP GFQLGPNNRS
210 220 230 240 250
CVDVNECDMG APCEQRCFNS YGTFLCRCHQ GYELHRDGFS CSDIDECSYS
260 270 280 290 300
SYLCQYRCIN EPGRFSCHCP QGYQLLATRL CQDIDECESG AHQCSEAQTC
310 320 330 340 350
VNFHGGYRCV DTNRCVEPYI QVSENRCLCP ASNPLCREQP SSIVHRYMTI
360 370 380 390 400
TSERSVPADV FQIQATSVYP GAYNAFQIRA GNSQGDFYIR QINNVSAMLV
410 420 430 440
LARPVTGPRE YVLDLEMVTM NSLMSYRASS VLRLTVFVGA YTF
Length:443
Mass (Da):49,405
Last modified:March 20, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9315CFBBAA0FD3A7
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PRU1E9PRU1_HUMAN
EGF-containing fibulin-like extrace...
EFEMP2
436Annotation 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>
E9PRQ8E9PRQ8_HUMAN
EGF-containing fibulin-like extrace...
EFEMP2
183Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PKA3E9PKA3_HUMAN
EGF-containing fibulin-like extrace...
EFEMP2
202Annotation 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>
E9PSC1E9PSC1_HUMAN
EGF-containing fibulin-like extrace...
EFEMP2
77Annotation 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>
H0YET5H0YET5_HUMAN
EGF-containing fibulin-like extrace...
EFEMP2
182Annotation 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>
H0YEU0H0YEU0_HUMAN
EGF-containing fibulin-like extrace...
EFEMP2
74Annotation 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>
E9PI47E9PI47_HUMAN
EGF-containing fibulin-like extrace...
EFEMP2
76Annotation 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>
H0YCR9H0YCR9_HUMAN
EGF-containing fibulin-like extrace...
EFEMP2
69Annotation 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>
H0YCB5H0YCB5_HUMAN
EGF-containing fibulin-like extrace...
EFEMP2
54Annotation 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>
E9PNB8E9PNB8_HUMAN
EGF-containing fibulin-like extrace...
EFEMP2
58Annotation 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>

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 conflicti5A → T in CAA10791 (PubMed:10601734).Curated1
Sequence conflicti44 – 51EWDPDSQH → TQTAN in AAC62108 (Ref. 2) Curated8
Sequence conflicti46D → G in BAF84768 (PubMed:14702039).Curated1
Sequence conflicti96P → L in BAG50843 (PubMed:14702039).Curated1
Sequence conflicti103 – 111AQHPNPCPP → VNTQPLPT in AAC62108 (Ref. 2) Curated9
Sequence conflicti294C → W in AAC62108 (Ref. 2) Curated1
Sequence conflicti354 – 356RSV → AER in AAC62108 (Ref. 2) Curated3
Sequence conflicti355S → R in AAF65188 (PubMed:10982184).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02701957E → K in ARCL1B. 1 PublicationCorresponds to variant dbSNP:rs119489101EnsemblClinVar.1
Natural variantiVAR_027020259I → V7 PublicationsCorresponds to variant dbSNP:rs601314EnsemblClinVar.1
Natural variantiVAR_067069267C → Y in ARCL1B. 1 PublicationCorresponds to variant dbSNP:rs193302866EnsemblClinVar.1
Natural variantiVAR_067070279R → C in ARCL1B. 1 PublicationCorresponds to variant dbSNP:rs119489102EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AJ132819 mRNA Translation: CAA10791.2
AF093119 mRNA Translation: AAC62108.1
AF109121 mRNA Translation: AAF65188.1
AK000980 mRNA Translation: BAG50843.1
AK292079 mRNA Translation: BAF84768.1
AY358899 mRNA Translation: AAQ89258.1
AK075453 mRNA Translation: BAG52143.1
AP001201 Genomic DNA No translation available.
BC010456 mRNA Translation: AAH10456.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8116.1

NCBI Reference Sequences

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RefSeqi
NP_058634.4, NM_016938.4

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.731454

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000307998; ENSP00000309953; ENSG00000172638
ENST00000531972; ENSP00000435295; ENSG00000172638

Database of genes from NCBI RefSeq genomes

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GeneIDi
30008

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:30008

UCSC genome browser

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UCSCi
uc001ofy.5 human

Keywords - Coding sequence diversityi

Polymorphism

<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
AJ132819 mRNA Translation: CAA10791.2
AF093119 mRNA Translation: AAC62108.1
AF109121 mRNA Translation: AAF65188.1
AK000980 mRNA Translation: BAG50843.1
AK292079 mRNA Translation: BAF84768.1
AY358899 mRNA Translation: AAQ89258.1
AK075453 mRNA Translation: BAG52143.1
AP001201 Genomic DNA No translation available.
BC010456 mRNA Translation: AAH10456.1
CCDSiCCDS8116.1
RefSeqiNP_058634.4, NM_016938.4
UniGeneiHs.731454

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KL7NMR-A54-123[»]
ProteinModelPortaliO95967
SMRiO95967
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119026, 54 interactors
DIPiDIP-34518N
IntActiO95967, 160 interactors
MINTiO95967
STRINGi9606.ENSP00000309953

PTM databases

GlyConnecti1199
iPTMnetiO95967
PhosphoSitePlusiO95967

Polymorphism and mutation databases

BioMutaiEFEMP2

Proteomic databases

jPOSTiO95967
PaxDbiO95967
PeptideAtlasiO95967
PRIDEiO95967
ProteomicsDBi51148

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
30008
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000307998; ENSP00000309953; ENSG00000172638
ENST00000531972; ENSP00000435295; ENSG00000172638
GeneIDi30008
KEGGihsa:30008
UCSCiuc001ofy.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
30008
DisGeNETi30008
EuPathDBiHostDB:ENSG00000172638.12

GeneCards: human genes, protein and diseases

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GeneCardsi
EFEMP2
GeneReviewsiEFEMP2
HGNCiHGNC:3219 EFEMP2
HPAiHPA023270
MalaCardsiEFEMP2
MIMi604633 gene
614437 phenotype
neXtProtiNX_O95967
OpenTargetsiENSG00000172638
Orphaneti90349 Autosomal recessive cutis laxa type 1
314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency
PharmGKBiPA27653

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IR6U Eukaryota
ENOG410ZNNG LUCA
GeneTreeiENSGT00940000159437
HOGENOMiHOG000234337
HOVERGENiHBG051560
InParanoidiO95967
KOiK19866
OMAiQECHNLP
OrthoDBi1174178at2759
PhylomeDBiO95967
TreeFamiTF317514

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres
SIGNORiO95967

Miscellaneous databases

EvolutionaryTraceiO95967

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
EFEMP2

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

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GenomeRNAii
30008

Protein Ontology

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PROi
PR:O95967

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000172638 Expressed in 230 organ(s), highest expression level in tendon of biceps brachii
ExpressionAtlasiO95967 baseline and differential
GenevisibleiO95967 HS

Family and domain databases

InterProiView protein in InterPro
IPR026823 cEGF
IPR026824 Efemp2
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR037287 Fibulin_3/4/5
IPR009030 Growth_fac_rcpt_cys_sf
PANTHERiPTHR44074 PTHR44074, 1 hit
PTHR44074:SF3 PTHR44074:SF3, 1 hit
PfamiView protein in Pfam
PF12662 cEGF, 2 hits
PF07645 EGF_CA, 3 hits
SMARTiView protein in SMART
SM00181 EGF, 5 hits
SM00179 EGF_CA, 6 hits
SUPFAMiSSF57184 SSF57184, 2 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 4 hits
PS01186 EGF_2, 4 hits
PS50026 EGF_3, 4 hits
PS01187 EGF_CA, 6 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiFBLN4_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: O95967
Secondary accession number(s): A8K7R4
, B3KM31, B3KQT1, O75967
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: March 20, 2007
Last modified: February 13, 2019
This is version 194 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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