Gene: TFEC

Alternate names for this Gene: TCFEC|TFE-C|TFEC-L|TFECL|bHLHe34|hTFEC-L

Gene Summary: This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q31.2

Description of this Gene: transcription factor EC

Type of Gene: protein-coding

rs142673483 in TFEC gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs572119521 in TFEC gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.