Transmembrane protein 238 is a transmembrane protein that in humans is encoded by the TMEM238 gene.[5] The Homo sapiens TMEM238 gene is related to Bardet-Biedl Syndrome 2 and may play a role in amino acid transport, primarily showing expression in stomach and colon tissues.[5][6][7]
TMEM238 in Homo sapiens spans 5,049 base pairs and has two exons.[5] TMEM238 in humans is located at 19q13.42 near the end of the long arm, minus strand of the chromosome.[6] No splice isoforms or variants are known.
The general position of TMEM238 on human chromosome 19 marked by a red line from GeneCards.
Gene neighborhood
TMEM238 is chromosomally located between the transmembrane protein 190 (TMEM190) gene and ribosomal protein L28 (RPL28) gene.[8] TMEM190 is involved in protein self-association and hematopoietic progenitor cell differentiation.[9] RPL28 encodes a ribosomal protein that is part of the large 60S subunit.[10]
TMEM238 human gene neighbors diagram from UCSC Genome Browser.
Protein
Transmembrane protein 238 is composed of 176 amino acids, weighing approximately 18.0 kDa.[6] It has a basal isoelectric point of approximately 11.5.[11] The protein is rich in alanine, arginine, and small amino acids, with a greater preponderance of basic amino acids.
TMEM238 protein folding structuve via AlphaFoldTMEM238 protein topology in the membrane visualized via Protter
Protein topology within the membrane shows extracellular N- and C-terminals with a short intracellular domain between transmembrane domains.[13]
Gene level regulation
Expression pattern
TMEM238 shows higher expression in colon and stomach tissues, but variable ubiquitous expression in all other tissues.[5]
In situ hybridization
TMEM238 gene expression in the mouse brain shows higher expression in the pons and medulla as indicated by white arrows in the sagittal plane view.[14]
TMEM238 gene expression in the Mus musculus brain in the sagittal plane from the Allen Brain Atlas. Increased expression was found in the pons and medulla as indicated by the yellow fluorescence and white arrows.
Protein level regulation
Subcellular localization
The presence of two transmembrane domains within the protein confirm its presence in the plasma membrane.[15]
Six post-translational phosphorylation modification sites were found within the protein.[17][18][19] Presence of such sites indicate that both the N-terminus and C-terminus of the protein are located in the cytosol.
Homology
Orthologs can be found in vertebrates dating back to 563 million years ago from human divergence but not in any invertebrates.[20]
Expression of the TMEM238 protein was also shown to increase in several disease states including asthma and low invasive breast cancers as found in various microarray experiments.[24][25] DNA methylation in TMEM238 was identified as a mediator in the developmental BPA exposure and female-specific body weight phenotypes in mice.[7] Upregulation of the TMEM238 gene is present in POEMS syndrome.[26]
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