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Protein

EGF-containing fibulin-like extracellular matrix protein 2

Gene

EFEMP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • extracellular matrix structural constituent Source: ProtInc

GO - Biological processi

Keywordsi

LigandCalcium

Enzyme and pathway databases

ReactomeiR-HSA-2129379 Molecules associated with elastic fibres
SIGNORiO95967

Names & Taxonomyi

Protein namesi
Recommended name:
EGF-containing fibulin-like extracellular matrix protein 2
Alternative name(s):
Fibulin-4
Short name:
FIBL-4
Protein UPH1
Gene namesi
Name:EFEMP2
Synonyms:FBLN4
ORF Names:UNQ200/PRO226
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000172638.12
HGNCiHGNC:3219 EFEMP2
MIMi604633 gene
neXtProtiNX_O95967

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

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
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

DisGeNETi30008
GeneReviewsiEFEMP2
MalaCardsiEFEMP2
MIMi614437 phenotype
OpenTargetsiENSG00000172638
Orphaneti90349 Autosomal recessive cutis laxa type 1
314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency
PharmGKBiPA27653

Polymorphism and mutation databases

BioMutaiEFEMP2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000000757526 – 443EGF-containing fibulin-like extracellular matrix protein 2Add BLAST418

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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

PaxDbiO95967
PeptideAtlasiO95967
PRIDEiO95967
ProteomicsDBi51148

PTM databases

iPTMnetiO95967
PhosphoSitePlusiO95967

Expressioni

Gene expression databases

BgeeiENSG00000172638
CleanExiHS_EFEMP2
ExpressionAtlasiO95967 baseline and differential
GenevisibleiO95967 HS

Organism-specific databases

HPAiHPA023270

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi119026, 52 interactors
DIPiDIP-34518N
IntActiO95967, 132 interactors
MINTiO95967
STRINGi9606.ENSP00000309953

Structurei

Secondary structure

1443
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi68 – 73Combined sources6
Beta strandi78 – 82Combined sources5
Beta strandi113 – 116Combined sources4

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiO95967

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Sequence similaritiesi

Belongs to the fibulin family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR6U Eukaryota
ENOG410ZNNG LUCA
GeneTreeiENSGT00760000118806
HOGENOMiHOG000234337
HOVERGENiHBG051560
InParanoidiO95967
KOiK19866
OMAiQECHNLP
OrthoDBiEOG091G04QP
PhylomeDBiO95967
TreeFamiTF317514

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

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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
Checksum:i9315CFBBAA0FD3A7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFBLN4_HUMAN
AccessioniPrimary (citable) accession number: O95967
Secondary accession number(s): A8K7R4
, B3KM31, B3KQT1, O75967
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: March 20, 2007
Last modified: June 20, 2018
This is version 188 of the entry and version 3 of the sequence. See complete history.
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.

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

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