EFEMP2

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]

Description

EGF containing fibulin extracellular matrix protein 2

Tissue specificity

Low tissue specificity

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

11 (65866441 - 65873592)

Ensembl ID

ENSG00000172638  (ver. 103.38)

Orthologs

Mouse Efemp2: ENSMUSG00000024909

UniProt

O95967

neXtProt

NX_O95967

Human splice variants
Mouse splice variants

Protein structure