Type | Description |
---|---|
Definition | latent transforming growth factor beta binding protein 2 |
Date | Results | Publications |
---|---|---|
2021-02-06 13:53:00 | Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma. | 32165823 |
2020-02-15 10:46:00 | Our findings point out LTBP2 as responsible of a systemic phenotype coherent with the community of syndromes related to anomalies in genes involved in the TGFb-pathway. Among these disorders, LTBP2-related systemic disease emerges as a distinct condition with expanding prognostic implications and autosomal recessive inheritance. | 30565850 |
2019-08-31 13:09:00 | Data indicate thatlatent transforming growth factor beta binding protein 2 (LTBP2) is a potential prognostic blood biomarker that may reflect the level of differentiation of lung fibroblasts into myofibroblasts in idiopathic pulmonary fibrosis (IPF). | 30006483 |
2019-08-10 10:28:00 | High LTBP2 expression correlates with inferior survival in patients with colorectal cancer and plays a critical role in the progression of colorectal cancer. | 30956730 |
2019-03-02 12:44:00 | Study describes the first case of a microspherophakia phenotype associated with a novel homozygous mutation in the LTBP2 gene in a consanguineous Caucasian family. The insertion of an adenine in exon 36 of the LTBP2 gene (c.5439_5440insA) was associated with pathogenicity. | 29751740 |
Type | IDs |
---|---|
Synonymous | C14orf141, GLC3D, LTBP3, MSPKA, MSTP031, WMS3 |
Gene |
UniProtKB-ID:
LTBP2_HUMAN
UniprotKB:
Q14767
UniParc:
UPI000013D239
EMBL:
AC013451,
S82451,
Z37976
Ensembl:
ENSG00000119681
KO:
hsa:4053
|
Nucleutide sequences |
EMBL-CDS:
AAB37459.1,
CAA86030.1,
AAF87081.1
Ensembl_TRS:
ENST00000261978
|
Protein sequencees |
Ensembl_PRO:
ENSP00000261978
RefSeq:
NP_000419.1,
XP_011535067.1
|
Others |
UniRef100:
UniRef100_Q14767
UniRef90:
UniRef90_Q14767
UniRef50:
UniRef50_Q14767
UniGene:
Hs.512776,
Hs.597522
CCDS:
CCDS9831.1
|
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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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