User:Marle039/sandbox

Gene
Transmembrane protein 248 is a protein that is encoded by the TMEM248 gene. The protein TMEM248 encodes is 314 amino acid long protein containing four transmembrane regions. The TMEM248 gene has 37327 base pairs and spans from position 66,921,225 to position 66,958,551 on chromosome 7. TMEM219 is an important paralog of TMEM248. TMEM248P1 is a pseudogene of TMEM248. TMEM248 is found on chromosome 7 at locus 7q11.21 TMEM248 is located at chromosome 7 at location 7q11.21 and has 7 exons. TMEM248 is on the sense strand.

Messenger RNA|mRNA
TMEM248 mRNA is 4238 base pairs long. TMEM248 mRNA is most highly expressed in the thyroid, endometrium, prostate, testis, and ovaries, though it is ubiquitously expressed at varying levels in most tissue types.

Protein
The theoretical molecular weight of the 314 amino acid TMEM248 protein is approximately 35kDa and the theoretical pI is approximately 6. TMEM248 is expected to have a subcellular localization in the plasma membrane and vesicles. Based on predictions from Chou and Fasman Secondary Structure Prediction Server, TMEM248 is primarily made up of beta sheets and helices. TMEM248 protein has four transmembrane domains.



Post-translational Modifications
Predicted post-translational modifications for TMEM248 protein include glycosylation at Asn132, ubiquitination at Lys76, Lys228, and Lys308, and phosphorylation at Y13, S48, and S300.

Homology and Evolution
TMEM248 arose approximately 700 million years ago. The orthologous space of TMEM248 spreads across mammals, birds, sharks, reptiles, amphibians, bony fishes, a jawless vertebrate, and even some invertebrates. Though conserved in the sea lamprey, TMEM248 is not conserved in other early vertebrates like hagfish. TMEM248 is not found in plants, fungi, prokaryotes, or most other invertebrates.

Clinical Significance
A Geo Profile in NCBI shows expression of TMEM248 is much higher in fetal reticulocytes than in adult reticulocytes. Reticulocytes are immature red blood cells.

GWAS studies found that TMEM248 SNP rs4718428 is associated with corneal topography, and another SNP rs6971897 is associated with corneal thickness.