Gene: TIAM2

Alternate names for this Gene: STEF|TIAM-2

Gene Summary: This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described.

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.2-q25.3

Description of this Gene: TIAM Rac1 associated GEF 2

Type of Gene: protein-coding

Gene: TFB1M

Alternate names for this Gene: CGI-75|CGI75|mtTFB|mtTFB1

Gene Summary: The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.3

Description of this Gene: transcription factor B1, mitochondrial

Type of Gene: protein-coding

rs6908258 in TIAM2;TFB1M gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.