TMEM18 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | TMEM18 , transmembrane protein 18, lncND | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 613220 HomoloGene: 138333 GeneCards: TMEM18 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Transmembrane protein 18 also known as TMEM18 is a protein which in humans is encoded by the TMEM18 gene. [3]
TMEM18 seems to affect energy levels through insulin and glucagon signaling, and in flies, its downregulation induces a metabolic state resembling type-II diabetes [4]
Overexpression of the TMEM18 protein increases the migration capacity of neural stem cells while inactivation of TMEM18 results in almost complete loss of migration activity. [5]
The TMEM18 gene is ubiquitously expressed in both mammalian and fly tissues, [4] which suggests a basic cellular function. In the mouse brain, it is found in the majority of all cells, but is more abundant in neurons than other cell types. [6]
Genetic variants in the proximity of the TMEM18 gene are associated with obesity, [6] [7] [8] [9] [10] insulin levels, and blood sugar levels [4]
The TMEM18 gene has a long evolutionary history as it is present in both plants and animals. [4] [6] The TMEM18 protein's amino acid sequence is well conserved, which suggests that it has retained its function since the divergence of human and plants. The gene seems to have been lost in two separate lineages, but is not found duplicated in any analyzed genomes. Hence, it is not essential for eukaryotic organisms, but there appears to be selection against multiple copies of the TMEM18 gene. [4]
Fat mass and obesity-associated protein also known as alpha-ketoglutarate-dependent dioxygenase FTO is an enzyme that in humans is encoded by the FTO gene located on chromosome 16. As one homolog in the AlkB family proteins, it is the first mRNA demethylase that has been identified. Certain alleles of the FTO gene appear to be correlated with obesity in humans.
Cell adhesion molecule 1 is a protein that, in humans, is encoded by the CADM1 gene.
EGF-containing fibulin-like extracellular matrix protein 1 is a protein that in humans is encoded by the EFEMP1 gene.
SH2B adapter protein 1 is a protein that in humans is encoded by the SH2B1 gene.
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.
60S ribosomal protein L36a is a protein that in humans is encoded by the RPL36A gene.
Transcription factor AP-2 beta also known as AP2-beta is a protein that in humans is encoded by the TFAP2B gene.
Glucosamine-6-phosphate deaminase 2 also known as GNPDA2 is an enzyme that in humans is encoded by the GNPDA2 gene.
Neuronal growth regulator 1 also known as NEGR1 is a protein which in humans is encoded by the NEGR1 gene.
Potassium channel tetramerisation domain containing 15 also known as BTB/POZ domain-containing protein KCTD15 is protein that in humans is encoded by the KCTD15 gene.
Mitochondrial carrier homolog 2 also known as MTCH2 is a protein which in humans is encoded by the MTCH2 gene.
Like many other medical conditions, obesity is the result of an interplay between environmental and genetic factors. Studies have identified variants in several genes that may contribute to weight gain and body fat distribution; although, only in a few cases are genes the primary cause of obesity.
Expression quantitative trait loci (eQTLs) are genomic loci that explain variation in expression levels of mRNAs.
Centrosomal protein of 120 kDa (Cep120), also known as coiled-coil domain-containing protein 100, is a protein that in humans is encoded by the CEP120 gene.
Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.
Interferon kappa, also known as IFN-kappa, is a protein that in humans is encoded by the IFNK gene.
Zinc finger protein 300 is a protein that in humans is encoded by the ZNF300 gene. The protein encoded by this gene is a C2H2-type zinc finger DNA binding protein and a likely transcription factor.
Phosphatase and actin regulator 1 (PHACTR1) is a protein that in humans is encoded by the PHACTR1 gene on chromosome 6. It is most significantly expressed in the globus pallidus of the brain. PHACTR1 is an actin and protein phosphatase 1 (PP1) binding protein that binds actin and regulates the reorganization of the actin cytoskeleton. This protein has been associated with coronary artery disease and migraines through genome-wide association studies. The PHACTR1 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.
Michael Edward "Mike" Goddard is a professorial fellow in animal genetics at the University of Melbourne, Australia.
Eleftheria Zeggini is a director of the institute of translational genomics in Helmholtz Zentrum München and a professor at the Technical University of Munich (TUM). Previously she served as a research group leader at the Wellcome Trust Sanger Institute from 2008 to 2018 and an honorary professor in the department of health sciences at the University of Leicester in the UK.