Property Summary

NCBI Gene PubMed Count 33
Grant Count 67
R01 Count 40
Funding $6,415,259
PubMed Score 105.71
PubTator Score 86.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.514 0.000
primitive neuroectodermal tumor 1.100 0.000
Pick disease 1.100 0.000
ovarian cancer -2.100 0.000

Gene

Gene RIF (16)

PMID Text
24850884 SBP2 makes direct contacts with a discrete region of the human 28S rRNA.
22308032 Selenocysteine insertion sequence (SECIS)-binding protein 2 alters conformational dynamics of residues involved in tRNA accommodation in 80 S ribosomes.
22247018 The patient showed typical symptoms of SBP2 deficiency, and novel compound heterozygous mutations were identified in SBP2 (p.M515fsX563/p.Q79X).
21084748 Describe subjects with compound heterozygous defects in the SECISBP2 gene. These individuals have reduced synthesis of most of the 25 known human selenoproteins, resulting in a complex phenotype.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20378690 Observational study of gene-disease association. (HuGE Navigator)
19803747 Results demonstrate that SECIS-binding protein 2 is required for protection against reactive oxygen species-induced cellular damage and cell survival.
19602558 SBP2 gene mutation producing early arrest in synthesis of full-length molecule. Demonstration that SBP2 isoforms containing all functional domains could be synthesized from three downstream ATGs explains the relatively mild phenotype caused by this defect
19467292 ca. 70% of the SBP2 sequence is disordered, whereas the RNA binding domain appears to be folded and functional.
19265499 Seleniuim is obviously not a limiting factor in the SBP2 deficient individuals when regular daily selenium intake is provided
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AA Sequence

MASEGPREPESEGIKLSADVKPFVPRFAGLNVAWLESSEACVFPSSAATYYPFVQEPPVTEQKIYTEDMA      1 - 70
FGASTFPPQYLSSEITLHPYAYSPYTLDSTQNVYSVPGSQYLYNQPSCYRGFQTVKHRNENTCPLPQEMK     71 - 140
ALFKKKTYDEKKTYDQQKFDSERADGTISSEIKSARGSHHLSIYAENSLKSDGYHKRTDRKSRIIAKNVS    141 - 210
TSKPEFEFTTLDFPELQGAENNMSEIQKQPKWGPVHSVSTDISLLREVVKPAAVLSKGEIVVKNNPNESV    211 - 280
TANAATNSPSCTRELSWTPMGYVVRQTLSTELSAAPKNVTSMINLKTIASSADPKNVSIPSSEALSSDPS    281 - 350
YNKEKHIIHPTQKSKASQGSDLEQNEASRKNKKKKEKSTSKYEVLTVQEPPRIEDAEEFPNLAVASERRD    351 - 420
RIETPKFQSKQQPQDNFKNNVKKSQLPVQLDLGGMLTALEKKQHSQHAKQSSKPVVVSVGAVPVLSKECA    421 - 490
SGERGRRMSQMKTPHNPLDSSAPLMKKGKQREIPKAKKPTSLKKIILKERQERKQRLQENAVSPAFTSDD    491 - 560
TQDGESGGDDQFPEQAELSGPEGMDELISTPSVEDKSEEPPGTELQRDTEASHLAPNHTTFPKIHSRRFR    561 - 630
DYCSQMLSKEVDACVTDLLKELVRFQDRMYQKDPVKAKTKRRLVLGLREVLKHLKLKKLKCVIISPNCEK    631 - 700
IQSKGGLDDTLHTIIDYACEQNIPFVFALNRKALGRSLNKAVPVSVVGIFSYDGAQDQFHKMVELTVAAR    701 - 770
QAYKTMLENVQQELVGEPRPQAPPSLPTQGPSCPAEDGPPALKEKEEPHYIEIWKKHLEAYSGCTLELEE    771 - 840
SLEASTSQMMNLNL                                                            841 - 854
//

Text Mined References (34)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24850884 2014 The SBP2 protein central to selenoprotein synthesis contacts the human ribosome at expansion segment 7L of the 28S rRNA.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22308032 2012 Selenocysteine insertion sequence (SECIS)-binding protein 2 alters conformational dynamics of residues involved in tRNA accommodation in 80 S ribosomes.
22247018 2012 Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation.
21084748 2010 Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20378690 2010 Genetic variants in selenoprotein genes increase risk of colorectal cancer.
19803747 2010 SECIS-binding protein 2 promotes cell survival by protecting against oxidative stress.
19602558 2009 Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
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