| Type | Description |
|---|---|
| Definition | GATA zinc finger domain containing 2B |
| Date | Results | Publications |
|---|---|---|
| 2020-02-08 11:42:00 | GATAD2B-related intellectual disability is a rare condition with subtle yet recognizable clinical features. In this article, we highlight a consistent clinical profile of subjects with GATAD2B-related intellectual disability. | 31205050 |
| 2019-11-02 11:05:00 | Our report further supports the importance of GATAD2B in neurodevelopment and contributes to delineation of the phenotype of the recently identified GAND. Mosaicism for the pathogenic variant in unaffected mothers of cases prompts detailed genetic testing with the use of NGS technology and genetic counseling for the parents of children with GAND. | 30346093 |
| 2018-12-22 11:31:00 | GATAD2B interacts with C-MYC to enhance KRAS driven tumor growth. | 30013058 |
| 2017-10-21 12:14:00 | This data suggests that 1q21.3 microdeletion is a recurrent microdeletion syndrome with distinguishable phenotypes, and loss of function of GATAD2B is the major contributor of the characteristic facies and ID. | 28211977 |
| 2017-09-30 12:14:00 | findings suggest that GATAD2B serves as an important mediator of progesterone-progesterone receptor suppression of proinflammatory and contractile genes during pregnancy; decreased GATAD2B expression near term may contribute to the decline in progesterone receptor function, leading to labor | 28576827 |
| Type | IDs |
|---|---|
| Synonymous | MRD18, P66beta, p68 |
| Gene |
UniProtKB-ID:
P66B_HUMAN
UniprotKB:
Q8WXI9
UniParc:
UPI0000071E1B
EMBL:
BC069419,
AL513523,
AF411836,
BC112080,
AB032976,
BC112052,
CH471121
Ensembl:
ENSG00000261992,
ENSG00000143614
KO:
hsa:57459
|
| Nucleutide sequences |
EMBL-CDS:
EAW53270.1,
AAI12053.1,
AAL39080.1,
AAH69419.1,
AAI12081.1,
BAA86464.1
Ensembl_TRS:
ENST00000576342,
ENST00000634544,
ENST00000368655
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000489184,
ENSP00000357644,
ENSP00000458280
RefSeq:
XP_024304389.1,
NP_065750.1,
XP_005245421.1
|
| Others |
UniRef100:
UniRef100_Q8WXI9
UniRef90:
UniRef90_Q8WXI9
UniRef50:
UniRef50_Q8WXI9
UniGene:
Hs.4779,
Hs.596854
CCDS:
CCDS1054.1
|
| {{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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