| Type | Description |
|---|---|
| Definition | FSHD region gene 2 |
| Date | Results | Publications |
|---|---|---|
| 2015-07-25 10:34:00 | Study showed that the variability in clinical severity of facioscapulohumeral muscular dystrophy in FSHD1 and FSHD2 individuals is dependent on individual differences in susceptibility to D4Z4 hypomethylation. | 25256356 |
| 2011-10-22 11:42:00 | new insights into the gene deregulation characterizing both FSHD-1 and FSHD-2, in which miRNAs may play a role | 21695143 |
| 2010-11-13 10:20:00 | Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process. | 20975055 |
| 2010-01-21 00:00:00 | FRG2 is upregulated in differentiating myoblast cultures of autosomal dominant facioscapulohumeral muscular dystrophy patients. | 15520407 |
| Type | IDs |
|---|---|
| Synonymous | FRG2A |
| Gene |
UniProtKB-ID:
FRG2_HUMAN
UniprotKB:
Q64ET8
UniParc:
UPI000043DEBD,
UPI0001D3BA7C
EMBL:
AF146191,
BC144572,
AY714545
Ensembl:
ENSG00000205097,
ENSG00000285063,
ENSG00000285202,
ENSG00000274972
KO:
hsa:448831
|
| Nucleutide sequences |
EMBL-CDS:
AAU14220.1,
AAI44573.1
Ensembl_TRS:
ENST00000646368,
ENST00000644173,
ENST00000611713,
ENST00000645766,
ENST00000504750,
ENST00000629452,
ENST00000646140,
ENST00000378763
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000368039,
ENSP00000495315,
ENSP00000482196,
ENSP00000494204,
ENSP00000424015,
ENSP00000485877,
ENSP00000496323,
ENSP00000494024
RefSeq:
NP_001005217.1,
NP_001273749.1
|
| Others |
UniRef100:
UniRef100_Q64ET8
UniRef90:
UniRef90_Q64ET8
UniRef50:
UniRef50_Q64ET8
UniGene:
Hs.626907
CCDS:
CCDS68834.1,
CCDS34123.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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