Gene: GTF2IRD1

Alternate names for this Gene: BEN|CREAM1|GTF3|MUSTRD1|RBAP2|WBS|WBSCR11|WBSCR12|hMusTRD1alpha1

Gene Summary: The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.23

Description of this Gene: GTF2I repeat domain containing 1

Type of Gene: protein-coding

rs186053156 in GTF2IRD1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7793359 in GTF2IRD1 gene and Influenza due to Influenza A virus subtype H1N1 PMID 26379185 2015 No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity.

rs2267828 in GTF2IRD1 gene and Lupus Erythematosus, Systemic PMID 26663301 2016 Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans.

PMID 27399966 2016 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.

rs863223350 in GTF2IRD1 gene and Schizophrenia, Childhood PMID 26508570 2016 De novo variants in sporadic cases of childhood onset schizophrenia.

rs61372645 in GTF2IRD1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.