GTF2IRD2 Gene - GTF2I Repeat Domain Containing 2
Comprehensive genomic and functional annotation of GTF2IRD2, a member of the GTF2I family involved in transcriptional regulation and neurodevelopmental disorders.
Gene Information Card
| Symbol | GTF2IRD2 |
|---|---|
| Full Name | GTF2I repeat domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 84163 ncbi.nlm.nih.gov/gene/84163 |
| Ensembl ID | ENSG00000105976 |
| UniProt ID | Q9H0G5 |
| OMIM ID | 608899 |
| HGNC ID | 21114 |
| Aliases | GTF2IRD2A, GTF2IRD2B, WBSCR11, GTF2I repeat domain containing 2A |
Description
GTF2IRD2 (GTF2I repeat domain containing 2) is a protein-coding gene located on chromosome 7q11.23, a region commonly deleted in Williams-Beuren syndrome. The encoded protein belongs to the GTF2I family of transcription factors, characterized by multiple helix-loop-helix (HLH) repeats, and is involved in transcriptional regulation, chromatin remodeling, and neurodevelopment. GTF2IRD2 is thought to modulate gene expression by interacting with other transcription factors and may play a role in cognitive and behavioral phenotypes associated with Williams-Beuren syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Williams-Beuren syndrome | Haploinsufficiency due to deletion of 7q11.23 including GTF2IRD2 | OMIM #194050; multiple studies show GTF2IRD2 deletion contributes to neurocognitive features |
| Autism spectrum disorder | Rare copy number variants in 7q11.23 region | ClinVar; case-control studies |
| Intellectual disability | Deletion or duplication of GTF2IRD2 | ClinVar; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.1 | Low |
| Testis | 2.8 | Low |
| Lung | 1.5 | Not detected |
| Liver | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 4.0 | Moderate expression |
| HEK293 (embryonic kidney) | 2.5 | Low expression |
| HeLa (cervical carcinoma) | 1.8 | Low expression |
| K562 (leukemia) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; predicted NMD |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function |
| c.789G>A (p.Trp263*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons and nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported in GTF2IRD2.
Dominant Negative (DN)
Not described for GTF2IRD2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• GTF2I family transcriptional regulation
• Williams-Beuren syndrome gene network
Protein Summary
The GTF2IRD2 protein (UniProt Q9H0G5) contains multiple GTF2I-like repeats (helix-loop-helix domains) and a nuclear localization signal. It functions as a transcription factor that binds DNA and regulates gene expression, particularly in neuronal development. The protein is 940 amino acids long and is predominantly nuclear. Its exact binding partners and target genes are still under investigation, but it is thought to interact with other GTF2I family members and chromatin modifiers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GTF2IRD2B Knockout HEK293 Cell Line | EDJ-KQ12948 | Human | 389524 | Details Get a Quote |
| GTF2IRD2B Knockout A-549 Cell Line | EDJ-KQ43408 | Human | 389524 | Details Get a Quote |
| GTF2IRD2B Knockout HCT 116 Cell Line | EDJ-KQ43410 | Human | 389524 | Details Get a Quote |
| GTF2IRD2B Knockout HeLa Cell Line | EDJ-KQ43411 | Human | 389524 | Details Get a Quote |
| GTF2IRD2 Knockout HEK293 Cell Line | EDJ-KQ51812 | Human | 84163 | Details Get a Quote |
| GTF2IRD2 Knockout HeLa Cell Line | EDJ-KQ57542 | Human | 84163 | Details Get a Quote |
| GTF2IRD2 Knockout A-549 Cell Line | EDJ-KQ66040 | Human | 84163 | Details Get a Quote |
| GTF2IRD2 Knockout HCT 116 Cell Line | EDJ-KQ74464 | Human | 84163 | Details Get a Quote |
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