| Type | Description |
|---|---|
| Definition | fibrillin 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-27 11:53:00 | The c.3528C>A (p.Asn1176Lys) variant of the FBN2 gene probably underlies the pathogenesis of CCA in our case of congenital contractural arachnodactyly | 32335871 |
| 2019-07-27 11:13:00 | No common variant of FBN2 was, however, found to be significantly associated with AIS. | 30044367 |
| 2018-11-10 11:53:00 | Case Report: femoral aneurysm in patient with FBN2 mutation. | 29742989 |
| 2018-10-20 10:29:00 | Sequencing analysis showed a novel missense mutation in exon 30 of FBN2 gene [c.3973G>A, p.Asp1325Asn; Chr5 (g.127670862C>T) according to NM_001999.3] | 29864108 |
| 2018-05-05 12:06:00 | Decellularized lung scaffolds treated with FBN-2 and TN-C prior to re-epithelialization supported greater epithelial proliferation and tissue remodeling. | 28662401 |
| Type | IDs |
|---|---|
| Synonymous | CCA, DA9, EOMD |
| Gene |
UniProtKB-ID:
FBN2_HUMAN
UniprotKB:
P35556
UniParc:
UPI0000519468,
UPI0001A336A6
EMBL:
U03272,
AC025169,
X62009,
AC113387,
AK300440,
AC034235,
AB209735
Ensembl:
ENSG00000138829
KO:
hsa:2201
|
| Nucleutide sequences |
EMBL-CDS:
CAB56757.1,
AAA18950.1,
BAD92972.1,
BAG62163.1
Ensembl_TRS:
ENST00000508053,
ENST00000262464
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000262464,
ENSP00000424571
RefSeq:
XP_016864717.1,
NP_001990.2
|
| Others |
UniRef100:
UniRef100_P35556
UniRef90:
UniRef90_P35556
UniRef50:
UniRef50_P35556
UniGene:
Hs.519294
CCDS:
CCDS34222.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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