External Ids for FREM2 Gene
This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]
GeneCards Summary for FREM2 Gene
FREM2 (FRAS1 Related Extracellular Matrix Protein 2) is a Protein Coding gene. Diseases associated with FREM2 include unilateral renal agenesis and frem2-related fraser syndrome. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FREM3.
UniProtKB/Swiss-Prot for FREM2 Gene
Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. May be required for epidermal adhesion.