GTF2I - general transcription factor IIi Gene

Homo sapiens

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

Gene ID: 2969 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05903	GTF2I Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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