| Type |
Details |
Score |
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
frog, western clawed |
|
•
•
•
•
•
|
| Gene |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chimpanzee |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
dog, domestic |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
cattle |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chicken |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Repeat |
| Description: |
This region of sequence similarity is found up to six times in a variety of proteins including general transcription factor II-I (GTF2I). It has been suggested that this may be a DNA binding domain [, ]. |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Nir Sade A |
| Year: |
2023 |
| Journal: |
Commun Biol |
| Title: |
Neuronal Gtf2i deletion alters mitochondrial and autophagic properties. |
| Volume: |
6 |
| Issue: |
1 |
| Pages: |
1269 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
936
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kopp ND |
| Year: |
2020 |
| Journal: |
Hum Mol Genet |
| Title: |
Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences. |
| Volume: |
29 |
| Issue: |
9 |
| Pages: |
1498-1519 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Enkhmandakh B |
| Year: |
2016 |
| Journal: |
Genesis |
| Title: |
Generation of a mouse model for a conditional inactivation of Gtf2i allele. |
| Volume: |
54 |
| Issue: |
7 |
| Pages: |
407-12 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
He Y |
| Year: |
2022 |
| Journal: |
J Thorac Oncol |
| Title: |
A Knock-In Mouse Model of Thymoma With the GTF2I L424H Mutation. |
| Volume: |
17 |
| Issue: |
12 |
| Pages: |
1375-1386 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Giorgetti OB |
| Year: |
2022 |
| Journal: |
Commun Biol |
| Title: |
Human thymoma-associated mutation of the GTF2I transcription factor impairs thymic epithelial progenitor differentiation in mice. |
| Volume: |
5 |
| Issue: |
1 |
| Pages: |
1037 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mervis CB |
| Year: |
2012 |
| Journal: |
Am J Hum Genet |
| Title: |
Duplication of GTF2I results in separation anxiety in mice and humans. |
| Volume: |
90 |
| Issue: |
6 |
| Pages: |
1064-70 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1104
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Borralleras C |
| Year: |
2015 |
| Journal: |
Mol Ther |
| Title: |
Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome. |
| Volume: |
23 |
| Issue: |
11 |
| Pages: |
1691-1699 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kopp N |
| Year: |
2019 |
| Journal: |
Hum Mol Genet |
| Title: |
Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models. |
| Volume: |
28 |
| Issue: |
20 |
| Pages: |
3443-3465 |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
193
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
345
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
74
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
437
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
249
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
193
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
159
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
169
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
262
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
66
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
167
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
251
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
167
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
150
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
325
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
O'Mahoney JV |
| Year: |
1998 |
| Journal: |
Mol Cell Biol |
| Title: |
Identification of a novel slow-muscle-fiber enhancer binding protein, MusTRD1. |
| Volume: |
18 |
| Issue: |
11 |
| Pages: |
6641-52 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Osborne LR |
| Year: |
1999 |
| Journal: |
Genomics |
| Title: |
Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. |
| Volume: |
57 |
| Issue: |
2 |
| Pages: |
279-84 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
998
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
962
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1045
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
942
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1077
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
913
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
871
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
1045
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
human |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Martin LA |
| Year: |
2018 |
| Journal: |
Brain Behav |
| Title: |
Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams-Beuren syndrome and autism spectrum disorder. |
| Volume: |
8 |
| Issue: |
1 |
| Pages: |
e00895 |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
45
 |
| Fragment?: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ohazama A |
| Year: |
2007 |
| Journal: |
Dev Dyn |
| Title: |
TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome. |
| Volume: |
236 |
| Issue: |
10 |
| Pages: |
2884-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sakurai T |
| Year: |
2011 |
| Journal: |
Autism Res |
| Title: |
Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. |
| Volume: |
4 |
| Issue: |
1 |
| Pages: |
28-39 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Palmer SJ |
| Year: |
2012 |
| Journal: |
J Cell Sci |
| Title: |
GTF2IRD2 from the Williams-Beuren critical region encodes a mobile-element-derived fusion protein that antagonizes the action of its related family members. |
| Volume: |
125 |
| Issue: |
Pt 21 |
| Pages: |
5040-50 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Singh A |
| Year: |
2023 |
| Journal: |
Front Immunol |
| Title: |
Transcription factor TFII-I fine tunes innate properties of B lymphocytes. |
| Volume: |
14 |
|
| Pages: |
1067459 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Barak B |
| Year: |
2019 |
| Journal: |
Nat Neurosci |
| Title: |
Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug. |
| Volume: |
22 |
| Issue: |
5 |
| Pages: |
700-708 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Deurloo MHS |
| Year: |
2019 |
| Journal: |
Mol Neurobiol |
| Title: |
Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models. |
| Volume: |
56 |
| Issue: |
5 |
| Pages: |
3313-3325 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wang YK |
| Year: |
1998 |
| Journal: |
Genomics |
| Title: |
A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region. |
| Volume: |
48 |
| Issue: |
2 |
| Pages: |
163-70 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bayarsaihan D |
| Year: |
2002 |
| Journal: |
Genomics |
| Title: |
Genomic organization of the genes Gtf2ird1, Gtf2i, and Ncf1 at the mouse chromosome 5 region syntenic to the human chromosome 7q11.23 Williams syndrome critical region. |
| Volume: |
79 |
| Issue: |
1 |
| Pages: |
137-43 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Enkhmandakh B |
| Year: |
2009 |
| Journal: |
Proc Natl Acad Sci U S A |
| Title: |
Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development. |
| Volume: |
106 |
| Issue: |
1 |
| Pages: |
181-6 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Fijalkowska I |
| Year: |
2010 |
| Journal: |
BMC Res Notes |
| Title: |
Expression of the transcription factor, TFII-I, during post-implantation mouse embryonic development. |
| Volume: |
3 |
|
| Pages: |
203 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Li HH |
| Year: |
2009 |
| Journal: |
EMBO Mol Med |
| Title: |
Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice. |
| Volume: |
1 |
| Issue: |
1 |
| Pages: |
50-65 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Lucena J |
| Year: |
2010 |
| Journal: |
BMC Med Genet |
| Title: |
Essential role of the N-terminal region of TFII-I in viability and behavior. |
| Volume: |
11 |
|
| Pages: |
61 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Segura-Puimedon M |
| Year: |
2013 |
| Journal: |
Gene |
| Title: |
TFII-I regulates target genes in the PI-3K and TGF-β signaling pathways through a novel DNA binding motif. |
| Volume: |
527 |
| Issue: |
2 |
| Pages: |
529-36 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Enkhmandakh B |
| Year: |
2004 |
| Journal: |
Gene Expr Patterns |
| Title: |
The early embryonic expression of TFII-I during mouse preimplantation development. |
| Volume: |
4 |
| Issue: |
1 |
| Pages: |
25-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Grad M |
| Year: |
2022 |
| Journal: |
Cells |
| Title: |
Altered White Matter and microRNA Expression in a Murine Model Related to Williams Syndrome Suggests That miR-34b/c Affects Brain Development via Ptpru and Dcx Modulation. |
| Volume: |
11 |
| Issue: |
1 |
|
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus caroli |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus pahari |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus spretus |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gurumurthy A |
| Year: |
2020 |
| Journal: |
Front Physiol |
| Title: |
TFII-I/Gtf2i and Erythro-Megakaryopoiesis. |
| Volume: |
11 |
|
| Pages: |
590180 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Hakre S |
| Year: |
2006 |
| Journal: |
Mol Cell |
| Title: |
Opposing functions of TFII-I spliced isoforms in growth factor-induced gene expression. |
| Volume: |
24 |
| Issue: |
2 |
| Pages: |
301-8 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ashworth T |
| Year: |
2007 |
| Journal: |
J Immunol |
| Title: |
Cutting Edge: TFII-I controls B cell proliferation via regulating NF-kappaB. |
| Volume: |
178 |
| Issue: |
5 |
| Pages: |
2631-5 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:3028943 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2004-02-27 |
| Strength: |
Present |
| Sex: |
Female |
| Emaps: |
EMAPS:3102528 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:3028948 |
| Age: |
postnatal adult |
| Image: |
2 |
|
| Specimen Label: |
O |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:3815776 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2008-11-20 |
| Strength: |
Present |
| Sex: |
Female |
| Emaps: |
EMAPS:3102528 |
|
| Stage: |
TS28 |
| Assay Id: |
MGI:3816580 |
| Age: |
postnatal |
|
|
| Specimen Label: |
Metaphase II |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:3815776 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2008-11-20 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:360422 |
|
| Stage: |
TS02 |
| Assay Id: |
MGI:3816580 |
| Age: |
embryonic day 1.5 |
|
|
| Specimen Label: |
2-cell embryo |
| Detected: |
true |
| Specimen Num: |
2 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:3815776 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2008-11-20 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:360433 |
|
| Stage: |
TS03 |
| Assay Id: |
MGI:3816580 |
| Age: |
embryonic day 2.0 |
|
|
| Specimen Label: |
4-cell embryo |
| Detected: |
true |
| Specimen Num: |
3 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:3815776 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2008-11-20 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:360443 |
|
| Stage: |
TS03 |
| Assay Id: |
MGI:3816580 |
| Age: |
embryonic day 2.5 |
|
|
| Specimen Label: |
8-cell embryo |
| Detected: |
true |
| Specimen Num: |
4 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:3815776 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2008-11-20 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:360453 |
|
| Stage: |
TS03 |
| Assay Id: |
MGI:3816580 |
| Age: |
embryonic day 3.0 |
|
|
| Specimen Label: |
Morula |
| Detected: |
true |
| Specimen Num: |
5 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:3815776 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2008-11-20 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:360464 |
|
| Stage: |
TS04 |
| Assay Id: |
MGI:3816580 |
| Age: |
embryonic day 3.5 |
|
|
| Specimen Label: |
E3.5 blastocyst |
| Detected: |
true |
| Specimen Num: |
6 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:3815776 |
| Assay Type: |
RT-PCR |
| Annotation Date: |
2008-11-20 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:360465 |
|
| Stage: |
TS05 |
| Assay Id: |
MGI:3816580 |
| Age: |
embryonic day 4.5 |
|
|
| Specimen Label: |
E4.5 blastocyst |
| Detected: |
true |
| Specimen Num: |
7 |
|
•
•
•
•
•
|