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4053 LTBP2

4053

LTBP2

latent transforming growth factor beta binding protein 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition latent transforming growth factor beta binding protein 2

研究结论

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

名称对应

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

全选

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