| Type | Description |
|---|---|
| Definition | cytoplasmic FMR1 interacting protein 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 12:23:00 | This study evidenced a variety of de novo variants in CYFIP2 as a novel cause of mostly severe intellectual disability with seizures and muscular hypotonia. | 30664714 |
| 2020-03-07 11:32:00 | The importance of the ATRX/DAXX pathway was confirmed by the first-ever pancreatic neuroendocrine neoplasms (pNEN)-specific protein-damaging hotspot mutation in DAXX. In this study, both novel genes, including the pro-apoptotic CYFIP2 gene and hedgehog signaling PTCH2, and novel pathways, such as the MAPK-ERK pathway, were implicated in pNEN. | 30021865 |
| 2019-08-03 12:24:00 | This study identified de novo CYFIP2 variants at the Arg87 residue in cause early-onset epileptic encephalopathy. | 29534297 |
| 2019-07-27 11:04:00 | The current study provides further supports for contribution of CYFIP1/2 in the pathogenesis of autism spectrum disorder (ASD) and potentiates it as a peripheral marker for ASD diagnosis. | 29752658 |
| 2018-04-07 10:42:00 | Study characterized the functional roles of the two brain-specific phosphorylation sites (S582 and T1067) of CYFIP2 in cultured hippocampal neurons; found that overexpression of the phospho-blocking T1067A mutant significantly decreased the density of stubby spines, but not other types of spines. Study found that T1067 phosphorylation of CYFIP2 could potentially weaken the interaction between CYFIP2 and Nap1. | 28692454 |
| Type | IDs |
|---|---|
| Synonymous | EIEE65, PIR121 |
| Gene |
UniProtKB-ID:
CYFP2_HUMAN,
B7Z8N7_HUMAN,
E7EVJ5_HUMAN
UniprotKB:
Q96F07,
B7Z8N7,
E7EVJ5
UniParc:
UPI0001D55E6B,
UPI000191512E,
UPI0000038D62,
UPI0000DC89D8
EMBL:
AC009185,
KF459628,
AC016571,
AF160973,
CH471062,
AK223604,
AL136549,
KF510898,
AB032994,
AC008676,
BC011762,
AK303702
Ensembl:
ENSG00000055163
KO:
hsa:26999
|
| Nucleutide sequences |
EMBL-CDS:
EAW61604.1,
BAA86482.2,
EAW61606.1,
BAD97324.1,
EAW61605.1,
AAD45723.1,
CAB66484.1,
AAH11762.1,
BAH14023.1
Ensembl_TRS:
ENST00000616178,
ENST00000620254,
ENST00000618329,
ENST00000521420
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000479968,
ENSP00000479719,
ENSP00000484819,
ENSP00000430904
RefSeq:
NP_001032410.1,
NP_001278650.1,
XP_016864831.1,
XP_016864830.1,
NP_001278651.1,
NP_055191.2,
XP_011532818.1
|
| Others |
UniRef100:
UniRef100_B7Z8N7,
UniRef100_Q96F07,
UniRef100_E7EVJ5
UniRef90:
UniRef90_Q96F07,
UniRef90_H0XFL0
UniRef50:
UniRef50_Q96F07,
UniRef50_F1PDQ4
UniGene:
Hs.519702
CCDS:
CCDS78077.1,
CCDS75364.1
|
| {{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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