Human Gene EFEMP2 (ENST00000307998.11) from GENCODE V44
  Description: Homo sapiens EGF containing fibulin extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA. (from RefSeq NM_016938)
RefSeq Summary (NM_016938): A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011].
Gencode Transcript: ENST00000307998.11
Gencode Gene: ENSG00000172638.13
Transcript (Including UTRs)
   Position: hg38 chr11:65,866,441-65,872,800 Size: 6,360 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr11:65,866,918-65,872,354 Size: 5,437 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:65,866,441-65,872,800)mRNA (may differ from genome)Protein (443 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FBLN4_HUMAN
DESCRIPTION: RecName: Full=EGF-containing fibulin-like extracellular matrix protein 2; AltName: Full=Fibulin-4; Short=FIBL-4; AltName: Full=Protein UPH1; Flags: Precursor;
INTERACTION: P54259:ATN1; NbExp=3; IntAct=EBI-743414, EBI-945980; P15502:ELN; NbExp=5; IntAct=EBI-743414, EBI-1222108; Q9UBX5:FBLN5; NbExp=3; IntAct=EBI-743414, EBI-947897; P35555:FBN1; NbExp=3; IntAct=EBI-743414, EBI-2505934; P28300:LOX; NbExp=4; IntAct=EBI-743414, EBI-3893481; Q9BQY4:RHOXF2; NbExp=2; IntAct=EBI-743414, EBI-372094;
SUBCELLULAR LOCATION: Secreted.
DISEASE: Defects in EFEMP2 are the cause of cutis laxa, autosomal recessive, type 1B (ARCL1B) [MIM:614437]. A connective tissue disorder characterized by 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.
SIMILARITY: Belongs to the fibulin family.
SIMILARITY: Contains 6 EGF-like domains.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EFEMP2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EFEMP2
Diseases sorted by gene-association score: cutis laxa, autosomal recessive, type ib* (1200), efemp2-related cutis laxa* (500), lethal arteriopathy syndrome due to fibulin-4 deficiency* (350), cutis laxa, autosomal recessive, type ia* (283), cutis laxa, autosomal recessive type 1* (247), cutis laxa (34), aortic aneurysm (11), arterial tortuosity syndrome (8), aneurysm (7), rectal prolapse (5), aortic aneurysm, familial thoracic 1 (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 92.97 RPKM in Cells - Cultured fibroblasts
Total median expression: 1524.86 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.40125-0.475 Picture PostScript Text
3' UTR -191.60477-0.402 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026824 - Efemp1/Efemp2
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR001491 - Thrombomodulin

Pfam Domains:
PF07645 - Calcium-binding EGF domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KL7 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O95967
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0005515 protein binding

Biological Process:
GO:0048251 elastic fiber assembly

Cellular Component:
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0070062 extracellular exosome
GO:1903561 extracellular vesicle


-  Descriptions from all associated GenBank mRNAs
  BC018871 - Homo sapiens EGF-containing fibulin-like extracellular matrix protein 2, mRNA (cDNA clone IMAGE:3610383).
AK095794 - Homo sapiens cDNA FLJ38475 fis, clone FEBRA2022322, highly similar to Homo sapiens mRNA for fibulin-4.
AB209121 - Homo sapiens premature mRNA for mutant p53 binding protein 1 variant.
AF124486 - Homo sapiens fibulin-like extracellular matrix protein mRNA, complete cds.
AF093119 - Homo sapiens UPH1 (UPH1) mRNA, complete cds.
AY358899 - Homo sapiens clone DNA33460 EFEMP2 (UNQ200) mRNA, complete cds.
AK098186 - Homo sapiens cDNA FLJ40867 fis, clone TRACH2019024, highly similar to Homo sapiens mRNA for fibulin-4.
AK075453 - Homo sapiens cDNA PSEC0145 fis, clone PLACE1006711, highly similar to EGF-containing fibulin-like extracellular matrix protein 2 precursor.
AF109121 - Homo sapiens EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2) mRNA, complete cds.
AK000980 - Homo sapiens cDNA FLJ10118 fis, clone HEMBA1002818, highly similar to EGF-containing fibulin-like extracellular matrix protein 2 precursor.
AK292079 - Homo sapiens cDNA FLJ78052 complete cds, highly similar to Homo sapiens EGF-containing fibulin-like extracellular matrix protein 2, mRNA.
JD545273 - Sequence 526297 from Patent EP1572962.
JD138106 - Sequence 119130 from Patent EP1572962.
JD391626 - Sequence 372650 from Patent EP1572962.
JD216022 - Sequence 197046 from Patent EP1572962.
JD438214 - Sequence 419238 from Patent EP1572962.
JD474266 - Sequence 455290 from Patent EP1572962.
DQ598898 - Homo sapiens piRNA piR-36964, complete sequence.
LF211167 - JP 2014500723-A/18670: Polycomb-Associated Non-Coding RNAs.
MA446744 - JP 2018138019-A/18670: Polycomb-Associated Non-Coding RNAs.
AJ132819 - Homo sapiens mRNA for fibulin-4.
AB030655 - Homo sapiens mRNA for mutant p53 binding protein 1 (MBP1), complete cds.
BC010456 - Homo sapiens EGF-containing fibulin-like extracellular matrix protein 2, mRNA (cDNA clone MGC:16972 IMAGE:4182121), complete cds.
LF344376 - JP 2014500723-A/151879: Polycomb-Associated Non-Coding RNAs.
MA579953 - JP 2018138019-A/151879: Polycomb-Associated Non-Coding RNAs.
JD334403 - Sequence 315427 from Patent EP1572962.
CR541934 - Homo sapiens full open reading frame cDNA clone RZPDo834D0534D for gene EFEMP2, EGF-containing fibulin-like extracellular matrix protein 2; complete cds, incl. stopcodon.
AK315181 - Homo sapiens cDNA, FLJ96160, highly similar to Homo sapiens EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2), mRNA.
DQ892047 - Synthetic construct clone IMAGE:100004677; FLH182678.01X; RZPDo839A11140D EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2) gene, encodes complete protein.
DQ895241 - Synthetic construct Homo sapiens clone IMAGE:100009701; FLH182674.01L; RZPDo839A11139D EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2) gene, encodes complete protein.
AB528373 - Synthetic construct DNA, clone: pF1KB6642, Homo sapiens EFEMP2 gene for EGF-containing fibulin-like extracellular matrix protein 2, without stop codon, in Flexi system.
LF344375 - JP 2014500723-A/151878: Polycomb-Associated Non-Coding RNAs.
MA579952 - JP 2018138019-A/151878: Polycomb-Associated Non-Coding RNAs.
BC109225 - Homo sapiens cDNA clone IMAGE:40009802.
JD027530 - Sequence 8554 from Patent EP1572962.
JD032014 - Sequence 13038 from Patent EP1572962.
LF344373 - JP 2014500723-A/151876: Polycomb-Associated Non-Coding RNAs.
MA579950 - JP 2018138019-A/151876: Polycomb-Associated Non-Coding RNAs.
LF212758 - JP 2014500723-A/20261: Polycomb-Associated Non-Coding RNAs.
MA448335 - JP 2018138019-A/20261: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95967 (Reactome details) participates in the following event(s):

R-HSA-1592387 Fibulin binds elastic fibres
R-HSA-2328048 Emilin is found in elastic fibres
R-HSA-2161282 Elastic fibres bind associated proteins
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-1566948 Elastic fibre formation
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: A8K7R4, B3KM31, B3KQT1, ENST00000307998.1, ENST00000307998.10, ENST00000307998.2, ENST00000307998.3, ENST00000307998.4, ENST00000307998.5, ENST00000307998.6, ENST00000307998.7, ENST00000307998.8, ENST00000307998.9, FBLN4, FBLN4_HUMAN, NM_016938, O75967, O95967, uc001ofy.1, uc001ofy.2, uc001ofy.3, uc001ofy.4, uc001ofy.5, uc001ofy.6, UNQ200/PRO226
UCSC ID: ENST00000307998.11
RefSeq Accession: NM_016938
Protein: O95967 (aka FBLN4_HUMAN or FBL4_HUMAN)
CCDS: CCDS8116.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene EFEMP2:
efemp2-cutis-laxa (EFEMP2-Related Cutis Laxa)
taa (Heritable Thoracic Aortic Disease Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.