Gene: LOC101926943

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: GTF2I

Alternate names for this Gene: BAP135|BTKAP1|DIWS|GTFII-I|IB291|SPIN|TFII-I|WBS|WBSCR6

Gene Summary: This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed.

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.23

Description of this Gene: general transcription factor IIi

Type of Gene: protein-coding

rs7795281 in LOC101926943;GTF2I gene and C-reactive protein measurement PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

rs117026326 in LOC101926943;GTF2I gene and Sjogren's Syndrome PMID 24097066 2013 A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.

PMID 27503288 2016 Identification of susceptibility gene associated with female primary Sjögren's syndrome in Han Chinese by genome-wide association study.

rs2718277 in LOC101926943;GTF2I gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.