GTF2I - general transcription factor IIi Gene

Also Known as WBS; DIWS; SPIN; IB291; BAP135; BTKAP1; TFII-I; WBSCR6; GTFII-I

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2969

About GTF2I

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:74,657,718-74,760,692 (from NCBI)

This gene has 24 transcripts (splice variants), 130 orthologues, 18 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 105.1), thyroid (RPKM 95.5) and 25 other tissues.

Summary

This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several Other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]

GTF2I Products (6)

mRNA	Protein	Name
NM_001163636.3	NP_001157108.1	general transcription factor II-I isoform 5
NM_001280800.2	NP_001267729.1	general transcription factor II-I isoform 6
NM_001518.5	NP_001509.3	general transcription factor II-I isoform 4
NM_032999.4	NP_127492.1	general transcription factor II-I isoform 1
NM_033000.4	NP_127493.1	general transcription factor II-I isoform 2
NM_033001.4	NP_127494.1	general transcription factor II-I isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	9334314	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	9334314	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9012831	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within negative regulation of angiogenesis	IDA IDA: Inferred from direct assay	19242469	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9334314	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	19242469	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GTF2I Protein Structure

GTF2I

0
200
400
600
800
998 a.a.

Protein Preferred Names	Protein Names
general transcription factor II-I	BTK-associated protein, 135kD

GTF2I Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GTF2I	P78347	BRCA1	Homo sapiens	P38398	Anti Bait CoIP	21407215
Intra	GTF2I	P78347	BRCA1	Homo sapiens	P38398	Confocal	21407215
Intra	GTF2I	P78347	BTK	Homo sapiens	Q06187	Anti Bait CoIP	9012831

Cross: Cross-species interaction Intra: Intraspecies interaction

GTF2I Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83523	General Transcription Factor II I Antibody (YA3268)	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P83523A	General Transcription Factor II I Antibody (YA3268)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human

Related Diseases

Diseases	Alias
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Supravalvular Aortic Stenosis	SVAS Supravalvar Aortic Stenosis Supravalvar Aortic Stenosis, Eisenberg Type Aortic Supravalvular Stenosis Aortic Stenosis, Supravalvular Supra-Valvular Aortic Stenosis Stenosis, Aortic Supravalvular Stenosis, Supravalvular Aortic Supravalvular Stenosis, Aortic Aortic Stenosis Supravalvular
Thymoma	Primary Thymic Epithelial Neoplasm Primary Thymic Epithelial Tumor Thymus Neoplasms
Williams-Beuren Region Duplication Syndrome	7q11.23 Duplication Syndrome 7q11.23 Microduplication Syndrome Chromosome 7q11.23 Duplication Syndrome Wbs Duplication Syndrome Somerville-Van Der Aa Syndrome Dup(7)(Q11.23) Trisomy 7q11.23 William-Beuren Region Duplication Syndrome Chromosome 7q11.23 Duplication
Dyslexia
Immune System Organ Benign Neoplasm
Thymus Lipoma	Thymolipoma
Mediastinum Sarcoma	Sarcoma Of Mediastinum
Chromosomal Deletion Syndrome
Thymic Carcinoma	Malignant Thymoma Thymoma, Malignant
Intellectual Developmental Disorder, X-Linked 108	MRX108 X-Linked Intellectual Developmental Disorder 108 Mental Retardation, X-Linked 108 Mental Retardation, X-Linked, Type 108
Thymus Gland Disease	Disease Of Thymus Gland
Thymus Cancer	Thymic Neoplasm Thymic Tumor Thymus Neoplasm Thymus Neoplasms Malignant Neoplasm Of Thymus Neoplasm Of Thymus Thymic Neoplasms Thymoma, Familial Thymic Carcinoma Thymoma, Type C Cancer Of Thymus Malignant Tumour Of Thymus Primary Malignant Neoplasm Of Thymus Thymic Glandular Cancer Thymus Gland Cancer
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05903	GTF2I Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20950	Gtf2i Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27467	Gtf2i Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GTF2I	MGD	MGI:1202722
Rattus norvegicus	GTF2I	RGD	RGD:727961
Bos taurus	GTF2I	VGNC	VGNC:29699
Macaca mulatta	GTF2I	VGNC	VGNC:73313
Felis catus	GTF2I	VGNC	VGNC:67501
Canis familiaris	GTF2I	VGNC	VGNC:54032
Others	GTF2I	NCBI