| Type | Description |
|---|---|
| Definition | GTF2I repeat domain containing 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-04 12:37:00 | atypical Williams Syndrome patients with GTF2IRD2 deletion had more impaired visuospatial abilities and more significant behavioral problems, mainly related to the construct of social cognition | 30375319 |
| 2013-05-11 13:11:00 | We provide the first evidence for a role for GTF2IRD2 in higher-level (executive functioning) abilities and highlight the importance of integrating detailed molecular characterisation of patients with comprehensive neuropsychological profiling | 23118870 |
| 2010-01-21 00:00:00 | Williams-Beuren syndrome patients are hemizygous for the GTF2IRD2 gene. | 15100712 |
| 2010-01-21 00:00:00 | GTF2IRD2 genes in mice and humans allows refinement of the centromeric breakpoint position of the primate-specific inversion within the Williams-Beuren syndrome critical region. | 15243160 |
| 2010-01-21 00:00:00 | There is high indentity between CTF2IRD2 and CTF2I, which suggests that heterodimers as well as homodimers are possible, and indicates overlapping functions between their respective short isoforms. | 15388857 |
| Type | IDs |
|---|---|
| Synonymous | FP630, GTF2IRD2 alpha, GTF2IRD2A |
| Gene |
UniProtKB-ID:
GTD2A_HUMAN
UniprotKB:
Q86UP8
UniParc:
UPI0000213DB2,
UPI000DEC0489,
UPI0000350823,
UPI00033350AC,
UPI00003E60E2,
UPI0000246D12
EMBL:
BC061590,
AL834153,
AY336979,
AY336981,
BC067859,
AL833932,
AK291431,
AK098269,
BC047706,
AC211433,
AY312854,
AY312853,
AC211424,
AY260739,
AY336980
Ensembl:
ENSG00000196275
KO:
hsa:84163
|
| Nucleutide sequences |
EMBL-CDS:
AAP14955.1,
AAQ19674.1,
AAH47706.1,
AAR36865.1,
BAG53604.1,
AAR36867.1,
AAQ19673.1,
CAD38788.2,
AAH67859.1,
AAH61590.1,
AAR36866.1,
CAD38861.1,
BAF84120.1
Ensembl_TRS:
ENST00000614386,
ENST00000451013
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000481017,
ENSP00000406723
RefSeq:
NP_775808.4,
NP_001375390.1,
NP_001375010.1,
NP_001375016.1,
NP_001375018.1,
NP_001375012.1,
NP_001375013.1,
NP_001375011.1,
NP_001355229.1,
NP_001375017.1,
NP_001375009.1,
NP_001375014.1,
NP_001375015.1,
NP_001375389.1,
NP_001268376.1,
NP_001375008.1
|
| Others |
UniRef100:
UniRef100_Q86UP8
UniRef90:
UniRef90_Q86UP8
UniRef50:
UniRef50_Q86UP8
UniGene:
Hs.647017,
Hs.647039
CCDS:
CCDS64682.1,
CCDS5576.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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