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
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";
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.
ModBase Predicted Comparative 3D Structure on O95967
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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.