GTF2IRD1 Gene

Name	GTF2I repeat domain containing 1
Description	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. [provided by RefSeq, Nov 2010]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n GTF2IRD1 encodes a multifunctional transcription factor in the TFII‐I family that plays a central role in orchestrating developmental gene networks. In the nervous system, GTF2IRD1 is a key determinant of craniofacial formation, cognitive development, and social behavior. Human genetic studies and analyses of murine models have revealed that reduced dosage or loss of GTF2IRD1 contributes to the characteristic neurocognitive and craniofacial features observed in Williams–Beuren syndrome—including deficits in visuospatial construction, altered facial morphology, and changes in social and emotional responses such as diminished fear and increased sociability (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": " In mouse models, targeted disruption of Gtf2ird1 not only recapitulates these craniofacial and behavioral phenotypes but also yields deficits in motor coordination and altered neurochemical profiles, underscoring its regulatory importance during embryonic and postnatal brain development"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ", also supported by."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Beyond the central nervous system, GTF2IRD1 has been implicated in peripheral tissue homeostasis. It acts as a cold‐inducible transcriptional regulator that, in coordination with the PRDM16 complex, represses transforming growth factor β–dependent pro‐fibrotic genes in adipose tissue, thereby reducing obesity‐associated fibrosis and improving systemic glucose homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": " Moreover, in response to mechanical stimulation, Gtf2ird1 translocates into the nucleus of tenocytes to activate key regulatory genes involved in tendon homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " Intriguingly, it also participates in an autoregulatory mechanism by directly binding to its own promoter to maintain proper transcriptional dosage."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": " Collectively, these studies demonstrate that GTF2IRD1 is a versatile regulator whose activity is critical not only for proper craniofacial and cognitive development but also for the maintenance of tissue integrity in multiple organ systems.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "May Tassabehji, Peter Hammond, Annette Karmiloff-Smith, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GTF2IRD1 in craniofacial development of humans and mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1116142"}], "href": "https://doi.org/10.1126/science.1116142"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16293761"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16293761"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Badam Enkhmandakh, Aleksandr V Makeyev, Lkhamsuren Erdenechimeg, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0811531106"}], "href": "https://doi.org/10.1073/pnas.0811531106"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19109438"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19109438"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Hamao Hirota, Rumiko Matsuoka, Xiao-Ning Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/01.GIM.0000076975.10224.67"}], "href": "https://doi.org/10.1097/01.GIM.0000076975.10224.67"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12865760"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12865760"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "A Antonell, M Del Campo, L F Magano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2009.071712"}], "href": "https://doi.org/10.1136/jmg.2009.071712"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19897463"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19897463"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "L Dai, U Bellugi, X-N Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.32652"}], "href": "https://doi.org/10.1002/ajmg.a.32652"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19205026"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19205026"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "E J Young, T Lipina, E Tam, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1-targeted mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Brain Behav (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1601-183X.2007.00343.x"}], "href": "https://doi.org/10.1111/j.1601-183X.2007.00343.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17680805"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17680805"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Monique L Howard, Stephen J Palmer, Kylie M Taylor, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Dis (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nbd.2011.12.010"}], "href": "https://doi.org/10.1016/j.nbd.2011.12.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22198572"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22198572"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Stephen J Palmer, Enoch S E Tay, Nicole Santucci, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene Expr Patterns (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.modgep.2006.11.008"}], "href": "https://doi.org/10.1016/j.modgep.2006.11.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17239664"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17239664"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Yutaka Hasegawa, Kenji Ikeda, Yong Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Repression of Adipose Tissue Fibrosis through a PRDM16-GTF2IRD1 Complex Improves Systemic Glucose Homeostasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Metab (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cmet.2017.12.005"}], "href": "https://doi.org/10.1016/j.cmet.2017.12.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29320702"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29320702"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Tomohiro Kayama, Masaki Mori, Yoshiaki Ito, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gtf2ird1-Dependent Mohawk Expression Regulates Mechanosensing Properties of the Tendon."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/MCB.00950-15"}], "href": "https://doi.org/10.1128/MCB.00950-15"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26884464"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26884464"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Stephen J Palmer, Nicole Santucci, Jocelyn Widagdo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M109.086660"}], "href": "https://doi.org/10.1074/jbc.M109.086660"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20007321"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20007321"}]}]}]}
Synonyms	CREAM1, GTF3, WBSCR12, BEN, HMUSTRD1ALPHA1, MUSTRD1, WBSCR11, RBAP2
Proteins	GT2D1_HUMAN
NCBI Gene ID	9569
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

GTF2IRD1 has 8,181 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 119 datasets.

Click the + buttons to view associations for GTF2IRD1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

GTF2IRD1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by GTF2IRD1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GTF2IRD1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of GTF2IRD1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of GTF2IRD1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of GTF2IRD1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of GTF2IRD1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GTF2IRD1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of GTF2IRD1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GTF2IRD1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GTF2IRD1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of GTF2IRD1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of GTF2IRD1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of GTF2IRD1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with GTF2IRD1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with GTF2IRD1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GTF2IRD1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of GTF2IRD1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of GTF2IRD1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing GTF2IRD1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of GTF2IRD1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing GTF2IRD1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing GTF2IRD1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with GTF2IRD1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with GTF2IRD1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of GTF2IRD1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with GTF2IRD1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with GTF2IRD1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of GTF2IRD1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by GTF2IRD1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving GTF2IRD1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with GTF2IRD1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with GTF2IRD1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with GTF2IRD1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with GTF2IRD1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with GTF2IRD1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at GTF2IRD1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GTF2IRD1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of GTF2IRD1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing GTF2IRD1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD High Level Gene-Disease Associations	diseases associated with GTF2IRD1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.