CRELD2
Description
The CRELD2 (cysteine rich with EGF like domains 2) is a protein-coding gene located on chromosome 22.
CRELD2 is a human protein encoded by the CRELD2 gene located on chromosome 22q13. It is a homolog of CRELD1 and is characterized by a tryptophan-aspartic acid domain. CRELD2 is a multifunctional glycoprotein with a molecular weight of approximately 60 kDa. It can reside in the endoplasmic reticulum (ER) or Golgi apparatus and be spontaneously secreted. CRELD2 is implicated in various ER-stress-related diseases, including chronic liver disease, cardiovascular disease, kidney disease, and cancer.
CRELD2 can exist in multiple isoforms with similar motifs but different functions. Common motifs include EGF/calcium binding EGF domains and furin cysteine-rich domains. The C-terminal region contains the (R/H)EDL amino acid sequence, which is essential for retention and secretion. The N-terminal region possesses multiple CXXC motifs critical for translocation and isomerase activity. The functional promoter region upstream of CRELD2 contains CpG islands with abundant GC nucleotides and lacks a TATA box.
CRELD2 is also known as -.
Associated Diseases
- ALG12-congenital disorder of glycosylation
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spermatogenic failure 61
- spermatogenic failure 73
