Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9569
Gene name Gene Name - the full gene name approved by the HGNC.	GTF2I repeat domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GTF2IRD1
Synonyms (NCBI Gene) Gene synonyms aliases	BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q11.23
Summary Summary of gene provided in NCBI Entrez Gene.	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 trans

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs863223350	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(13)

miRTarBase ID	miRNA	Experiments
MIRT1037517	hsa-miR-1294	CLIP-seq
MIRT1037518	hsa-miR-4303	CLIP-seq
MIRT1037519	hsa-miR-4474-5p	CLIP-seq
MIRT1037520	hsa-miR-4682	CLIP-seq
MIRT1037521	hsa-miR-4762-3p	CLIP-seq
MIRT1037522	hsa-miR-4765	CLIP-seq
MIRT1037519	hsa-miR-4474-5p	CLIP-seq
MIRT2240184	hsa-miR-1278	CLIP-seq
MIRT1037518	hsa-miR-4303	CLIP-seq
MIRT1037519	hsa-miR-4474-5p	CLIP-seq
MIRT1037520	hsa-miR-4682	CLIP-seq
MIRT1037521	hsa-miR-4762-3p	CLIP-seq
MIRT1037522	hsa-miR-4765	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	11438732
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	9774679
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	9774679, 23229069
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	11438732
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	10575229
GO:0005515	Function	Protein binding	IPI	26275350, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11438732
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	10575229
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0014886	Process	Transition between slow and fast fiber	IEA

MIM	HGNC	e!Ensembl
604318	4661	ENSG00000006704

Protein

UniProt ID

Q9UHL9

Protein name

General transcription factor II-I repeat domain-containing protein 1 (GTF2I repeat domain-containing protein 1) (General transcription factor III) (MusTRD1/BEN) (Muscle TFII-I repeat domain-containing protein 1) (Slow-muscle-fiber enhancer-binding protein

Protein function

May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contr

PDB

2D99 , 2DN5 , 2DZQ , 2DZR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02946	GTF2I	128 → 202	GTF2I-like repeat	Family
PF02946	GTF2I	351 → 425	GTF2I-like repeat	Family
PF02946	GTF2I	565 → 639	GTF2I-like repeat	Family
PF02946	GTF2I	705 → 779	GTF2I-like repeat	Family
PF02946	GTF2I	802 → 876	GTF2I-like repeat	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.

Sequence

MALLGKRCDVPTNGCGPDRWNSAFTRKDEIITSLVSALDSMCSALSKLNAEVACVAVHDE
SAFVVGTEKGRMFLNARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLE
HGSDVYLLRKMVEEVFDVLYSEALGRASVVPLPYERLLREPGLLAVQGLPEGLAFRRPAE
YDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGVSLIPKGSRDCGLHGQAPKVP
PQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQD
FSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFN
SRYAEALGLDHMVPVPYRKIACDPEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIH
FIIKRMFDERIFTGNKFTKDTTKLEPASPPEDTSAEVSRATVLDLAGNARSDKGSMSEDC
GPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGHLPSEDSGYGMEMLTD
KGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEE
LFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQGTASS
LGFSPPALPPERDSGDPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEA
LGIKYPVQVPYKRIKSNPGSVIIEGLPPGIPFRKPCTFGSQNLERILAVADKIKFTVTRP
FQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVLVPYKLIRDSPDAVEV
TGLPDDIPFRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKR
KRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVQWPMYMVDYAGLNVQLPGPLNY

Sequence length

959

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Schizophrenia	Childhood-onset schizophrenia	rs863223350	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Neurodevelopmental Disorders	neurodevelopmental disorder	N/A	N/A	GenCC
Neuroticism	Neuroticism	N/A	N/A	GWAS
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agnosia	Associate	16971481
Aortic Stenosis Supravalvular	Associate	15994861
Arthritis Rheumatoid	Associate	31705128
Autism Spectrum Disorder	Associate	30008175
Carcinogenesis	Associate	32936232
Cognition Disorders	Associate	15994861, 19568270, 22608712
Colorectal Neoplasms	Associate	31758608, 33925358
Developmental Disabilities	Associate	17346708, 36308390
Facial Dysmorphism with Multiple Malformations	Associate	19568270
Facial Neoplasms	Associate	36308390
Funnel Chest	Associate	36308390
Genetic Diseases Inborn	Associate	36308390
Heart Defects Congenital	Associate	19205026, 22318994
Hyperostosis Diffuse Idiopathic Skeletal	Associate	22608712
Inflammation	Associate	32936232
Learning Disabilities	Associate	36308390
Liver Diseases	Stimulate	31758608
Lupus Erythematosus Systemic	Stimulate	26808113
Lupus Erythematosus Systemic	Associate	28135245, 31705128
Memory Disorders	Associate	22608712
Mental Disorders	Associate	26508570
Multiple Trauma	Associate	31705128
Neoplasm Metastasis	Stimulate	31758608
Neoplasms	Stimulate	31758608, 32936232
Pancreatic Neoplasms	Associate	32936232
Rheumatic Diseases	Associate	31705128
Schizophrenia Childhood	Associate	26508570
Scleroderma Systemic	Associate	31705128
Sjogren's Syndrome	Associate	31705128
Williams Syndrome	Associate	15994861, 16971481, 17346708, 19205026, 19568270, 22608712, 23118870, 23145142, 29884845, 30008175, 35379245, 36308390, 40024325
Williams Syndrome	Inhibit	25105779

GTF2IRD1 (GTF2I repeat domain containing 1)