QuickView for Fibulin 4 (gene)

Gene Symbol:

EFEMP2 Homo sapiens

Full name:

EGF containing fibulin extracellular matrix protein 2

Synonyms:

ARCL1B, FBLN4, MBP1, UPH1, EGF-containing fibulin-like extracellular matrix protein 2, EGF containing fibulin like extracellular matrix protein 2, FIBL-4, fibulin 4, mutant p53 binding protein 1

Genomic Location:

Chr 11: 65390488-65396852

Description:

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 calci...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

FXR_Q3 ,  ZIC1_01 ,  NGFIC_01 ,  ZIC3_01 ,  GGGAGGRR_MAZ_Q6 ,  CACCCBINDINGFACTOR_Q6 ,  YYCATTCAWW_UNKNOWN ,  EGR_Q6 ,  GGGCGGR_SP1_Q6 ,  GCM_Q2 ,  SPZ1_01 ,  SP1_Q6 ,  RNGTGGGC_UNKNOWN ,  AP2_Q6 ,  EGR1_01 ,  CP2_01 ,  SP1_Q2_01

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Cytogenetic Map:

11q13.1

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