TMEM138, Official Symbol TMEM138provided by HGNC Official Full Name transmembrane protein 138provided by HGNC Primary source HGNC:HGNC:26944 See related Ensembl:ENSG00000149483 MIM:614459; AllianceGenome:HGNC:26944 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HSPC196 Summary This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in adrenal (RPKM 10.4), lymph node (RPKM 5.7) and 25 other tissues See more Orthologs mouse all