EFEMP2

Also known as ARCL1B, FBLN4, MBP1, UPH1, EGF containing fibulin like extracellular matrix protein 2, EGF containing fibulin extracellular matrix protein 2

EGF-containing fibulin-like extracellular matrix protein 2 is a protein that in humans is encoded by the EFEMP2 gene.

In the Vinony graph

Vinony's link graph records 45 inbound references to EFEMP2, and connects out to PubMed, Ensembl genome database project and protein.

It is catalogued under the topic Human genes.

Vinony links it to 5 Wikipedia language editions.

Gene data

EFEMP2

Name: EGF-like fibulin extracellular matrix protein 2
Type: protein-coding
Position: 65,866,300–65,878,497 (−)
Aliases: ARCL1B, FBLN4, MBP1, UPH1
Ensembl: ENSG00000172638
RefSeq RNA: NM_016938.5, NR_037718.2
RefSeq protein: NP_058634.4

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].