XB-FEAT-1013528: Difference between revisions
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=efemp2= | =efemp2= | ||
This is the community wiki page for the gene ''efemp2'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase | This is the community wiki page for the gene ''efemp2'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase. | ||
=nomenclature changes= | |||
10/17/17 | |||
Human name has changed for Entrez Gene: 30008. From EGF containing fibulin like extracellular matrix protein 2 to EGF containing fibulin extracellular matrix protein 2. | |||
=NCBI 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] | |||
Latest revision as of 06:25, 17 October 2017
efemp2
This is the community wiki page for the gene efemp2 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.
nomenclature changes
10/17/17 Human name has changed for Entrez Gene: 30008. From EGF containing fibulin like extracellular matrix protein 2 to EGF containing fibulin extracellular matrix protein 2.
NCBI 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]