Property Summary

NCBI Gene PubMed Count 8
PubMed Score 11.26
PubTator Score 9.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
posterior fossa group B ependymoma 1.500 0.000

Synonym

Accession Q8TBZ6 B2R8X7 Q9Y2T9
Symbols MSSGM
TRM10
MSSGM1
RG9MTD2
HEL-S-88

Gene

PDB

4FMW  

 GO Process (1)

Gene RIF (3)

PMID Text
26297882 Homozygous deletion of TRMT10A is associated with a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus.
25053765 TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.
24204302 This is the first study describing the impact of TRMT10A deficiency in mammals, highlighting a role in the pathogenesis of microcephaly and early onset diabetes.

AA Sequence

MSSEMLPAFIETSNVDKKQGINEDQEESQKPRLGEGCEPISKRQMKKLIKQKQWEEQRELRKQKRKEKRK      1 - 70
RKKLERQCQMEPNSDGHDRKRVRRDVVHSTLRLIIDCSFDHLMVLKDIKKLHKQIQRCYAENRRALHPVQ     71 - 140
FYLTSHGGQLKKNMDENDKGWVNWKDIHIKPEHYSELIKKEDLIYLTSDSPNILKELDESKAYVIGGLVD    141 - 210
HNHHKGLTYKQASDYGINHAQLPLGNFVKMNSRKVLAVNHVFEIILEYLETRDWQEAFFTILPQRKGAVP    211 - 280
TDKACESASHDNQSVRMEEGGSDSDSSEEEYSRNELDSPHEEKQDKENHTESTVNSLPH               281 - 339
//

Text Mined References (12)

PMID Year Title
26297882 2015 Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus.
25053765 2014 TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.
24204302 2013 tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23042678 2012 A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
20459617 2010 Distinct high resolution genome profiles of early onset and late onset colorectal cancer integrated with gene expression data identify candidate susceptibility loci.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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