GTF2IRD1 (GTF2I repeat domain containing 1)

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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs863223350 C>A,T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
miRTarBase ID miRNA Experiments Reference
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
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:0003700 Function DNA-binding transcription factor activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604318 4661 ENSG00000006704
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (34)
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Bicuspid aortic valve Bicuspid aortic valve rs1569484234, rs1569484208
Show/Hide Unknown Diseases (12)
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure ClinVar
Mental depression Depressive disorder ClinVar
Myocardial infarction Myocardial Infarction ClinVar
Otitis media Chronic otitis media ClinVar
Show/Hide Text Mining Associations (31)
Associations from Text Mining
Disease Name Relationship Type References
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