Homo sapiens Protein: EFEMP2 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-583748.3 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | EFEMP2 | ||||||||||||||||||
Protein Name | EGF containing fibulin-like extracellular matrix protein 2 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000435295 | ||||||||||||||||||
InnateDB Gene | IDBG-57900 (EFEMP2) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | |||||||||||||||||||
Subcellular Localization | Secreted. | ||||||||||||||||||
Disease Associations | Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437]: A 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. {ECO:0000269PubMed:16685658, ECO:0000269PubMed:17937443, ECO:0000269PubMed:19664000}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000742
Epidermal growth factor-like domain IPR001491 Thrombomodulin IPR001881 EGF-like calcium-binding domain IPR002919 Trypsin Inhibitor-like, cysteine rich domain |
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PFAM |
PF00008
PF07645 PF01826 |
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PRINTS |
PR00907
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PIRSF | |||||||||||||||||||
SMART |
SM00181
SM00179 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | O95967 | ||||||||||||||||||
PhosphoSite | PhosphoSite-O95967 | ||||||||||||||||||
TrEMBL | E9PRQ8 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 30008 | ||||||||||||||||||
UniGene | |||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:3219 | ||||||||||||||||||
OMIM | 604633 | ||||||||||||||||||
CCDS | CCDS8116 | ||||||||||||||||||
HPRD | 05221 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AF093119 AF109121 AJ132819 AK000980 AK075453 AK292079 AP001201 AY358899 BC010456 CH471076 | ||||||||||||||||||
GenPept | AAC62108 AAF65188 AAH10456 AAQ89258 BAF84768 BAG50843 BAG52143 CAA10791 EAW74455 EAW74456 EAW74457 EAW74458 EAW74459 EAW74461 EAW74462 | ||||||||||||||||||