Gene Gene information from NCBI Gene database.
Entrez ID 2969
Gene name General transcription factor IIi
Gene symbol GTF2I
Synonyms (NCBI Gene)
BAP135BTKAP1DIWSGTFII-IIB291SPINTFII-IWBSWBSCR6
Chromosome 7
Chromosome location 7q11.23
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 nei
miRNA miRNA information provided by mirtarbase database.
680
miRTarBase ID miRNA Experiments Reference
MIRT005058 hsa-let-7b-5p Microarray 17699775
MIRT030772 hsa-miR-21-5p Microarray 18591254
MIRT052433 hsa-let-7a-5p CLASH 23622248
MIRT051501 hsa-let-7e-5p CLASH 23622248
MIRT048674 hsa-miR-99a-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HDAC3 Unknown 21549311
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific NAS 23229069
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 9334314
GO:0003677 Function DNA binding IEA
GO:0003700 Function DNA-binding transcription factor activity IBA
GO:0005515 Function Protein binding IPI 9012831, 19214191, 21407215, 24722188, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601679 4659 ENSG00000263001
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P78347
Protein name General transcription factor II-I (GTFII-I) (TFII-I) (Bruton tyrosine kinase-associated protein 135) (BAP-135) (BTK-associated protein 135) (SRF-Phox1-interacting protein) (SPIN) (Williams-Beuren syndrome chromosomal region 6 protein)
Protein function Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of
PDB 2D9B , 2DN4 , 2ED2 , 2EJE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02946 GTF2I 112 186 GTF2I-like repeat Family
PF02946 GTF2I 361 435 GTF2I-like repeat Family
PF02946 GTF2I 466 540 GTF2I-like repeat Family
PF02946 GTF2I 571 645 GTF2I-like repeat Family
PF02946 GTF2I 733 807 GTF2I-like repeat Family
PF02946 GTF2I 868 942 GTF2I-like repeat Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Isoform 1 is strongly expressed in fetal brain, weakly in adult brain, muscle, and lymphoblasts and is almost undetectable in other adult tissues, while the other isoforms are equally expressed in all adult tissues.
Sequence
MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTE
RGRAFVNTRKDFQKDFVKYCVEEEEKAAEMHKMKSTTQANRMSVDAVEIETLRKTVEDYF
CFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGI
SFIIKR
PFLEPKKHVGGRVMVTDADRSILSPGGSCGPIKVKTEPTEDSGISLEMAAVTVK
EESEDPDYYQYNIQAGPSETDDVDEKQPLSKPLQGSHHSSEGNEGTEMEVPAEDSTQHVP
SETSEDPEVEVTIEDDDYSPPSKRPKANELPQPPVPEPANAGKRKVREFNFEKWNARITD
LRKQVEELFERKYAQAIKAKGPVTIPYPLFQSHVEDLYVEGLPEGIPFRRPSTYGIPRLE
RILLAKERIRFVIKK
HELLNSTREDLQLDKPASGVKEEWYARITKLRKMVDQLFCKKFAE
ALGSTEAKAVPYQKFEAHPNDLYVEGLPENIPFRSPSWYGIPRLEKIIQVGNRIKFVIKR

PELLTHSTTEVTQPRTNTPVKEDWNVRITKLRKQVEEIFNLKFAQALGLTEAVKVPYPVF
ESNPEFLYVEGLPEGIPFRSPTWFGIPRLERIVRGSNKIKFVVKK
PELVISYLPPGMASK
INTKALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGRE
FSFEAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPF
RRPSTFGIPRLEKILRNKAKIKFIIKK
PEMFETAIKESTSSKSPPRKINSSPNVNTTASG
VEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITIN
PGCVVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIR
PFPGLVINNQLVDQSESE
GPVIQESAEPSQLEVPATEEIKETDGSSQIKQEPDPTW
Sequence length 998
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Basal transcription factors
cGMP-PKG signaling pathway
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abnormal dermatoglyphic pattern Abnormal dermatoglyphic pattern HPO_DG
★☆☆☆☆
Found in Text Mining only
Accessory kidney Accessory Kidney HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 18206229
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 18206229
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30992691
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 28439953
★☆☆☆☆
Found in Text Mining only
Aneurysm of aortic arch Aneurysm Of Aortic Arch HPO_DG
★☆☆☆☆
Found in Text Mining only
Angioimmunoblastic Lymphadenopathy Angioimmunoblastic T-cell lymphoma BEFREE 27369867
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 22578324, 26216516, 26285132
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 26285132 Associate
★☆☆☆☆
Found in Text Mining only