C12orf40

C12orf40, also known as Chromosome 12 Open Reading Frame 40, HEL-206, and Epididymis Luminal Protein 206 is a protein that in humans is encoded by the "C12orf40" gene.
Gene.
Human gene.
In humans, the gene for "C12orf40" is located on chromosome 12. There are 13 exons in the highest quality isoform, forming an mRNA of 2797 base pairs. Three other isoforms have been isolated.
Evolution.
Homologs exist as distant as the green sea turtle and chickens at approximately 60% sequence identity, suggesting that the gene may have arisen in the amniotes after their divergence from other tetrapods; the first 4 exons are conserved with 36% identity as distantly as the anemone.
Protein.
Properties.
The human "C12orf40" protein is 652 amino acids in length. Its molecular weight is predicted to be 74.52 kDa, and its isoelectric point 7.822. Amino acids 229-652 contain a domain of unknown function ("DUF4552") which is conserved in vertebrates. "C12orf40" is predicted to be a soluble protein with no transmembrane segments. Its secondary and tertiary structures are not currently known.
Interactions.
Experimental evidence shows that C12orf40 has a physical interaction with dynein light chain 2 (DYNLL2). This protein is part of a complex that regulates the function of the motor protein dynein.
Expression.
Within the cell, "C12orf40" is predicted to be present in the nucleus based on signals within its sequence. An analysis of normal human tissues shows that "C12orf40" expression occurs primarily in the testis, suggesting importance to the male reproductive system.
Clinical significance.
The function of "C12orf40" is not yet well understood. However, the three prime untranslated region (3' UTR) of "C12orf40" is highly similar to the 3' UTR of the cystic fibrosis transmembrane conductance regulator (CFTR), which may mean that the two genes share certain expression patterns. In the fibroblasts of hypertrophic scars, exposure to the immunosuppressant Tacrolimus causes "C12orf40" up-regulation. In pigs, a region homologous to human "C12orf40" plays a role in arthrogryposis, a disease characterized by congenital fibrosis. The common thread of these studies suggests that "C12orf40" may have a connection to the formation of healthy connective tissue.