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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-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

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

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.

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:rs119489101Ensembl.1
Natural variantiVAR_067069267C → Y in ARCL1B. 1 PublicationCorresponds to variant dbSNP:rs193302866Ensembl.1
Natural variantiVAR_067070279R → C in ARCL1B. 1 PublicationCorresponds to variant dbSNP:rs119489102Ensembl.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.

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. 51 interactors.
DIPiDIP-34518N.
IntActiO95967. 133 interactors.
MINTiMINT-1439082.
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.
IPR009030. Growth_fac_rcpt_.
PANTHERiPTHR24044:SF379. PTHR24044:SF379. 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:rs119489101Ensembl.1
Natural variantiVAR_027020259I → V7 PublicationsCorresponds to variant dbSNP:rs601314Ensembl.1
Natural variantiVAR_067069267C → Y in ARCL1B. 1 PublicationCorresponds to variant dbSNP:rs193302866Ensembl.1
Natural variantiVAR_067070279R → C in ARCL1B. 1 PublicationCorresponds to variant dbSNP:rs119489102Ensembl.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: September 27, 2017
This is version 180 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