GTF2IRD1 Gene - GTF2I Repeat Domain Containing 1
A transcription factor involved in craniofacial development and Williams-Beuren syndrome
Gene Information Card
| Symbol | GTF2IRD1 |
|---|---|
| Full Name | GTF2I repeat domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 9569 ncbi.nlm.nih.gov/gene/9569 |
| Ensembl ID | ENSG00000106636 |
| UniProt ID | Q9UHL9 |
| OMIM ID | 604318 |
| HGNC ID | 4663 |
| Aliases | GTF3, GTF2IRD1, WBSCR11, GTF2I repeat domain containing 1 |
Description
GTF2IRD1 (GTF2I repeat domain containing 1) is a protein-coding gene located on chromosome 7q11.23. It encodes a transcription factor that belongs to the GTF2I family, characterized by multiple helix-loop-helix (HLH) domains. The protein is involved in regulating gene expression during development, particularly in craniofacial and neural crest cell differentiation. Haploinsufficiency of GTF2IRD1 is associated with Williams-Beuren syndrome (WBS), a multisystem neurodevelopmental disorder. The gene is also implicated in transcriptional regulation of genes related to cell cycle and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Williams-Beuren syndrome | Haploinsufficiency due to deletion of 7q11.23 region including GTF2IRD1; reduced protein levels impair craniofacial and neural crest development | OMIM #194050; multiple studies confirm deletion in WBS patients |
| Supravalvular aortic stenosis (SVAS) | Indirect contribution via elastin (ELN) gene deletion in same region; GTF2IRD1 loss may modulate vascular remodeling | OMIM; associated with WBS contiguous gene deletion |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 7.8 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Embryonic kidney cell line |
| HeLa | 8.9 | Cervical cancer cell line |
| SH-SY5Y | 14.2 | Neuroblastoma cell line |
| HepG2 | 6.3 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.789_790del (p.Glu264fs) | Frameshift | <0.01% | Frameshift; loss of function |
| c.1567G>A (p.Gly523Arg) | Missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay; associated with Williams-Beuren syndrome phenotype.
Gain of Function (GOF)
No documented gain-of-function mutations in GTF2IRD1.
Dominant Negative (DN)
Not reported; haploinsufficiency is the primary mechanism in WBS.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Williams-Beuren syndrome (WBS) pathway
• Neural crest differentiation
Protein Summary
GTF2IRD1 encodes a 959-amino acid protein with multiple GTF2I-like repeats and a leucine zipper motif. It functions as a transcription factor that binds to DNA and regulates expression of genes involved in development, particularly in the craniofacial region and nervous system. The protein is localized to the nucleus and interacts with other transcription factors. Loss of one copy due to 7q11.23 deletion leads to Williams-Beuren syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GTF2IRD1 Knockout HEK293 Cell Line | EDJ-KQ1848 | Human | 9569 | Details Get a Quote |
| GTF2IRD1 Knockout A-549 Cell Line | EDJ-KQ21708 | Human | 9569 | Details Get a Quote |
| GTF2IRD1 Knockout HCT 116 Cell Line | EDJ-KQ21709 | Human | 9569 | Details Get a Quote |
| GTF2IRD1 Knockout HeLa Cell Line | EDJ-KQ21710 | Human | 9569 | Details Get a Quote |
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