Version 5.4
| Homo sapiens Gene: EFEMP2 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-57900.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | EFEMP2 | ||||||||||||||||||
| Gene Name | EGF containing fibulin-like extracellular matrix protein 2 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000172638 | ||||||||||||||||||
| Encoded Proteins |
EGF containing fibulin-like extracellular matrix protein 2
EGF containing fibulin-like extracellular matrix protein 2
EGF containing fibulin-like extracellular matrix protein 2
EGF containing fibulin-like extracellular matrix protein 2
EGF containing fibulin-like extracellular matrix protein 2
EGF containing fibulin-like extracellular matrix protein 2
EGF containing fibulin-like extracellular matrix protein 2
EGF containing fibulin-like extracellular matrix protein 2
EGF containing fibulin-like extracellular matrix protein 2
EGF containing fibulin-like extracellular matrix protein 2
EGF containing fibulin-like extracellular matrix protein 2
EGF containing fibulin-like extracellular matrix protein 2
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 11:65866441-65873592 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | q13.1 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| 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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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Molecules associated with elastic fibres pathway
Elastic fibre formation pathway
Extracellular matrix organization pathway
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| KEGG | |||||||||||||||||||
| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | |||||||||||||||||||
| RefSeq | NM_016938 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS8116 | ||||||||||||||||||
| HPRD | 05221 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||