EGF-Containing Fibulin-Like Extracellular Matrix Protein 2

Alternative Names

  • EFEMP2
  • Fibulin 4
  • FBLN4
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OMIM Number

604633

NCBI Gene ID

30008

Uniprot ID

O95967

Length

6,360 bases

No. of Exons

12

No. of isoforms

1

Protein Name

EGF-containing fibulin-like extracellular matrix protein 2

Molecular Mass

49405 Da

Amino Acid Count

443

Genomic Location

chr11:65,866,440-65,872,799

Gene Map Locus
11q13.1

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 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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_016938.5:c.506G>ASaudi ArabiaNC_000011.10:g.65870222C>TUncertain SignificanceUncertain SignificanceCutis Laxa, Autosomal Recessive, Type IBNG_012304.2:g.7713G>A; NM_016938.5:c.506G>A; NP_058634.4:p.Arg169His141310608472828
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