GTF2IRD2B: General Transcription Factor II-I Repeat Domain-Containing Protein 2B
A member of the GTF2I family of transcription factors with roles in gene regulation and potential links to neurodevelopmental disorders.
Gene Information Card
| Symbol | GTF2IRD2B |
|---|---|
| Full Name | General transcription factor II-I repeat domain-containing protein 2B |
| Gene Type | Protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 100128731 ncbi.nlm.nih.gov/gene/100128731 |
| Ensembl ID | ENSG00000204304 |
| UniProt ID | Q5VWM1 |
| OMIM ID | None |
| HGNC ID | 37272 |
| Aliases | GTF2IRD2B, FLJ00385, MGC138499 |
Description
GTF2IRD2B (General Transcription Factor II-I Repeat Domain Containing 2B) is a protein-coding gene located on chromosome 7q11.23, within the Williams-Beuren syndrome (WBS) critical region. It encodes a member of the GTF2I family of transcription factors, which are characterized by multiple helix-loop-helix (HLH) repeat domains. The protein is involved in transcriptional regulation, potentially influencing cell growth, differentiation, and neurodevelopment. GTF2IRD2B is one of several duplicated genes in this region and may contribute to the phenotypic variability of WBS.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Williams-Beuren syndrome | Deletion of the 7q11.23 region including GTF2IRD2B may contribute to the neurodevelopmental and craniofacial features of WBS. | OMIM #194050; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.5 | Low |
| Heart | 0.3 | Low |
| Liver | 0.1 | Not detected |
| Kidney | 0.2 | Not detected |
| Testis | 0.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.2 | Low expression |
| HeLa | 0.1 | Not detected |
| K562 | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | Unknown |
| c.567delA | Frameshift | <0.01% | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants are predicted to cause loss of function, potentially contributing to haploinsufficiency in the WBS region.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • RNA polymerase II distal enhancer sequence-specific binding (GO:0003705) | • nucleus (GO:0005634) |
| • regulation of transcription by RNA polymerase II (GO:0006357) |
Pathways
• No specific pathways are curated for GTF2IRD2B in major databases.
Protein Summary
GTF2IRD2B encodes a 942-amino acid protein containing multiple helix-loop-helix (HLH) repeats characteristic of the GTF2I family. The protein localizes to the nucleus and is thought to act as a transcription factor, binding to DNA and regulating gene expression. Its exact biological functions remain under investigation, but it is likely involved in neurodevelopment and cellular differentiation, given its location in the Williams-Beuren syndrome critical region.
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 |
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