Property Summary

NCBI Gene PubMed Count 13
PubMed Score 22.17
PubTator Score 28.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.382 0.000
medulloblastoma, large-cell 1.100 0.000

Synonym

Accession Q7Z6J9 Q86WV3 Q86XE4 Q8N9H2
Symbols PCH4
PCH5
PCH2A
sen54
SEN54L

Gene

Gene RIF (6)

PMID Text
26701950 TSEN54 gene-related pontocerebellar hypoplasia type 2 presented with exaggerated startle response in cousins.
24938831 A novel heterozygous mutation was found in the TSEN54 gene by c.254A > T(+) (p.E85V), which may be a new subtype of hereditary ataxia
21468723 TSEN54 mutation causes a severe form of pontocerebellar hypoplasia type 1 in a family.
21383226 The results demonistrated that not all cases of clinically defined pontocerebellar hypoplasia-4 result from mutations in TSEN54.
20956791 We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype.
18711368 In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex.

AA Sequence

MEPEPEPAAVEVPAGRVLSARELFAARSRSQKLPQRSHGPKDFLPDGSAAQAERLRRCREELWQLLAEQR      1 - 70
VERLGSLVAAEWRPEEGFVELKSPAGKFWQTMGFSEQGRQRLHPEEALYLLECGSIHLFHQDLPLSIQEA     71 - 140
YQLLLTDHTVTFLQYQVFSHLKRLGYVVRRFQPSSVLSPYERQLNLDASVQHLEDGDGKRKRSSSSPRSI    141 - 210
NKKAKALDNSLQPKSLAASSPPPCSQPSQCPEEKPQESSPMKGPGGPFQLLGSLGPSPGPAREGVGCSWE    211 - 280
SGRAENGVTGAGKRRWNFEQISFPNMASDSRHTLLRAPAPELLPANVAGRETDAESWCQKLNQRKEKLSR    281 - 350
REREHHAEAAQFQEDVNADPEVQRCSSWREYKELLQRRQVQRSQRRAPHLWGQPVTPLLSPGQASSPAVV    351 - 420
LQHISVLQTTHLPDGGARLLEKSGGLEIIFDVYQADAVATFRKNNPGKPYARMCISGFDEPVPDLCSLKR    421 - 490
LSYQSGDVPLIFALVDHGDISFYSFRDFTLPQDVGH                                      491 - 526
//

Text Mined References (22)

PMID Year Title
26701950 TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
25416956 2014 A proteome-scale map of the human interactome network.
24938831 2014 A familial late?onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23307886 2014 Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21824568 2011 Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4.
21468723 2011 TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
21383226 2011 Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.
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