Property Summary

NCBI Gene PubMed Count 10
PubMed Score 3.61
PubTator Score 10.39

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis 1.200 0.012
osteosarcoma 1.131 0.005
glioblastoma 1.200 0.010
acute quadriplegic myopathy 1.006 0.000
lung cancer 2.100 0.006
aldosterone-producing adenoma -1.064 0.043
ovarian cancer 2.100 0.000

Synonym

Accession Q9Y2B1 A8K017 Q6PKD6
Symbols HP10481
MDDGA10

Gene

Gene RIF (2)

PMID Text
23217329 TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MRLTRKRLCSFLIALYCLFSLYAAYHVFFGRRRQAPAGSPRGLRKGAAPARERRGREQSTLESEEWNPWE      1 - 70
GDEKNEQQHRFKTSLQILDKSTKGKTDLSVQIWGKAAIGLYLWEHIFEGLLDPSDVTAQWREGKSIVGRT     71 - 140
QYSFITGPAVIPGYFSVDVNNVVLILNGREKAKIFYATQWLLYAQNLVQIQKLQHLAVVLLGNEHCDNEW    141 - 210
INPFLKRNGGFVELLFIIYDSPWINDVDVFQWPLGVATYRNFPVVEASWSMLHDERPYLCNFLGTIYENS    211 - 280
SRQALMNILKKDGNDKLCWVSAREHWQPQETNESLKNYQDALLQSDLTLCPVGVNTECYRIYEACSYGSI    281 - 350
PVVEDVMTAGNCGNTSVHHGAPLQLLKSMGAPFIFIKNWKELPAVLEKEKTIILQEKIERRKMLLQWYQH    351 - 420
FKTELKMKFTNILESSFLMNNKS                                                   421 - 443
//

Text Mined References (11)

PMID Year Title
27733679 2016 The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol ?1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan.
27130732 2016 The functional O-mannose glycan on ?-dystroglycan contains a phospho-ribitol primed for matriglycan addition.
25279699 2014 The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated ?-dystroglycan functional glycosylation.
23519211 2013 Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.
23217329 2012 Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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