GTF2IRD1 (GTF2I repeat domain containing 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 9569
Gene name GTF2I repeat domain containing 1
Gene symbol GTF2IRD1
Synonyms (NCBI Gene)
BENCREAM1GTF3MUSTRD1RBAP2WBSWBSCR11WBSCR12hMusTRD1alpha1
Chromosome 7
Chromosome location 7q11.23
Summary 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.
1
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.
13
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604318 4661 ENSG00000006704
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
30
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Childhood-onset schizophrenia Likely pathogenic rs863223350 RCV000202332
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GTF2IRD1-related disorder Likely benign; Benign; Uncertain significance rs138159923, rs2240357, rs61744518, rs782799091, rs782719821, rs17851629, rs2301895, rs782089689, rs202009652, rs758790855, rs144286165, rs73702616, rs565790840, rs55634982, rs140630041
View all (12 more)		 RCV003931158
RCV003975825
RCV003984075
RCV003429113
RCV003907173
RCV003974282
RCV003979569
RCV003984704
RCV003967266
RCV003909672
RCV003959708
RCV003964155
RCV003917056
RCV003971574
RCV003913218
RCV003916195
RCV003975633
RCV003948369
RCV003975516
RCV003910655
RCV003968363
RCV003950530
RCV003958118
RCV003960412
RCV003960461
RCV003977997
RCV003942907
RCV003936219
Show/Hide Text Mining Associations (31)
Associations from Text MiningDisease associations identified through Pubtator
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