TMEM229B

The TMEM229B gene is also known as C14orf83, FLJ33387, Q8NBD8, Hs.509707, Hs.712258, IPR010540, and CN083_HUMAN.{{cite web|title=Homo sapiens transmembrane protein 229B (TMEM229B), mRNA|url=https://www.ncbi.nlm.nih.gov/nuccore/NM_182526.2|work=National Center for Biotechnology Information|publisher=U.S. National Library of Medicine|accessdate=2011-04-19}}{{cite web|title=Gene & Protein Summary: TMEM229B|url=http://www.ebi.ac.uk/s4/eyeresult/?node=expression&species=Homo_sapiens&term=Homo+sapiens+TMEM229B&tid=nameOrgENSG00000198133|archive-url=https://archive.today/20121223004209/http://www.ebi.ac.uk/s4/eyeresult/?node=expression&species=Homo_sapiens&term=Homo+sapiens+TMEM229B&tid=nameOrgENSG00000198133|url-status=dead|archive-date=2012-12-23|work=European Bioinformatics Institute|publisher=European Molecular Biology Laboratory|accessdate=2011-04-19}}{{cite web|title=Human Gene TMEM229B (uc001xjk.2) Description and Page Index|url=http://genome.cse.ucsc.edu/cgi-bin/hgGene?hgsid=192776815&hgg_section_method_close=0#method|work=UCSC Genome Browser|accessdate=2011-04-19}}

The TMEM229B gene is located on the sense strand (-) of chromosome 14 at location 14q24.1 and spans the chromosomal locus 67,936,983—67,982,021.{{cite web|title=Gene: TMEM229B (ENSG00000198133)|url=http://useast.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198133;r=14:67936983-67982021;t=ENST00000357461|work=The Ensembl Project|publisher=European Bioinformatics Institute, European Molecular Biology Laboratory, and Wellcome Trust Sanger Institute|accessdate=2011-04-19}} Covering a total of 45,038 base pairs (bp) along the chromosome, the TMEM229B gene has a total of 3 exons in its primary unspliced transcript mRNA of 4,068 bp. There are a total of 7 transcript variants for TMEM229B ranging in mRNA size from 519 bp to 5008 bp.{{cite web|title=AceView synopsis of TMEM229B|url=https://www.ncbi.nlm.nih.gov|work=AceView|accessdate=24 April 2011}} The TMEM229B gene is flanked by phosphatidylinositol glycan anchor class H (PIGH), a protein associated with the endoplasmic reticulum specifically GPI-anchor biosynthesis, and PLEK2 on its left.{{cite web|title=Genecards|url=https://www.genecards.org/|work=The Human Gene Compendium|publisher=Weizmann Institute of Science with Xennex Inc.|accessdate=24 April 2011}}{{cite web|title=Chromosomal region of TMEM229B|url=http://www.ebi.ac.uk/s4/redirect/aHR0cDovL3d3dy5lYmkuYWMudWsvczQvZXllcmVzdWx0Lz9zcGVjaWVzPUhvbW9fc2FwaWVucyZ0ZXJtPVRNRU0yMjlCK2hvbW8mdGlkPW5hbWVPcmdFTlNHMDAwMDAxOTgxMzM=/26A4F?url=http://www.ensembl.org/Homo_sapiens/Location/View?g%3DENSG00000198133%3Bdb%3Dcore|work=EMBL-EBI|accessdate=24 April 2011}} See Figure 1.0. The gene is highly conserved in vertebrates, including portions of the approximately 3,000 base pairs of 3'UTR.{{cite web|title=NCBI Nuceleotide BLAST|url=http://blast.ncbi.nlm.nih.gov/Blast.cgi|work=Basic Local Alignment Search}}

Expressed sequence tag mapping of TMEM229B gene expression indicates that it is ubiquitously expressed throughout the body. TMEM229B is more heavily expressed in the parathyroid, skin, and thyroid tissues, and moderately expressed in bone marrow, trachea, spleen, eye, brain, pancreas, mammary gland, intestine, liver, thymus, lymph node, ovarian, muscle, lung, blood, and kidney tissues.{{cite web|title=EST profile: TMEM229B|url=https://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?UGID=724866&TAXID=9606&SEARCH=TMEM229B|work=UniGene|publisher=National Library of Medicine|accessdate=24 April 2011}}

The translated TMEM229B protein is a total of 167 amino acids long, with a predicted molecular weight of 19,531 daltons.{{cite web|title=Q8NBD8 (T229B_HUMAN)|url=http://www.ebi.ac.uk/s4/redirect/aHR0cDovL3d3dy5lYmkuYWMudWsvczQvZXllcmVzdWx0Lz9ub2RlPXByb3RlaW4mc3BlY2llcz1Ib21vX3NhcGllbnMmdGVybT1Ib21vK3NhcGllbnMrVE1FTTIyOUImdGlkPW5hbWVPcmdFTlNHMDAwMDAxOTgxMzM=/3333A?url=http://www.uniprot.org/uniprot/Q8NBD8.html%23section_terms|work=UniProtKB|publisher=EMBL-EBI|accessdate=2011-04-21}} The TMEM229B protein contains a domain of unknown function, part of the domain family DUF1113, spanning from amino acids 87 to 135.{{cite web|title=transmembrane protein 229B [Homo sapiens]|url=https://www.ncbi.nlm.nih.gov/protein/32698890|work=National Center for Biotechnology Information|publisher=U.S. National Library of Medicine|accessdate=2011-04-19}}

Based on predicted structure TMEM229b is highly resemblant of a connexin subunit. A highly conserved phosphorylation site exists at the Threonine-139 position.{{cite web|title=Kinase specific Phosphorylation prediction tool|url=http://www.cbs.dtu.dk/services/NetPhos/}} See multiple sequence alignment below.

File:TMEM229_b.jpg|Annotated diagram of the TMEM229b gene (with its 3 exons), mature mRNA and protein domains. Functional peptide is predicted to take the form of a connexin 4-pass transmembrane subunit (seen below).

Expression of the TMEM229B gene increases in several disease states including amelanotic skin melanoma, B-cell neoplasm, breast carcinoma, Burkitt's lymphoma, colorectal adenocarcinoma, carcinoma, cutaneous T cell lymphoma, esophageal carcinoma, gastric carcinoma, glioblastoma, liver carcinoma, lymphoma, melanoma, small cell lung carcinoma, T-cell acute lymphoblastic leukemia, thyroid carcinoma and Wilms' tumor as found in several microarray experiments.{{cite web|title=Transcription profiling of TMEM229B | url = http://www.ebi.ac.uk/s4/redirect/aHR0cDovL3d3dy5lYmkuYWMudWsvczQvZXllcmVzdWx0Lz9ub2RlPWV4cHJlc3Npb24mc3BlY2llcz1Ib21vX3NhcGllbnMmdGVybT1UTUVNMjI5Qitob21vK3NhcGllbnMmdGlkPW5hbWVPcmdFTlNHMDAwMDAxOTgxMzM=/5D0A6?url=http://www.ebi.ac.uk/gxa/gene/ENSG00000198133?ef%3Ddisease_state | work = EMBL-EBI|publisher=European Molecular Biology Laboratory and European Bioinformatics Institute|accessdate=24 April 2011}} Over-expression of the TMEM229B gene has not been linked as a causal factor in any of these disease states.

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Category:Proteins

Category:Genes on human chromosome 14