Property Summary

NCBI Gene PubMed Count 11
PubMed Score 4.84
PubTator Score 4.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma -1.500 0.000
psoriasis 1.700 0.000
sonic hedgehog group medulloblastoma -1.900 0.000
glioblastoma -1.200 0.004
medulloblastoma, large-cell -2.400 0.000
primitive neuroectodermal tumor -1.300 0.001
pediatric high grade glioma -1.100 0.000
ovarian cancer 1.100 0.001

Gene RIF (3)

PMID Text
26542466 The discovery of additional TECPR2 utations in non-Bukharian patients implies that this disease might be more common than previously appreciated
26431026 Results show that TECPR2 associates with several trafficking components as SEC24D and cooperates with LC3C to regulate ER exit sites and ER export suggesting that TECPR2 functions as molecular scaffold linking early secretion pathway and autophagy.
23176824 The discovered TECPR2 mutation implicates autophagy, a central intracellular mechanism, in spastic paraparesis.

AA Sequence

MASISEPVTFREFCPLYYLLNAIPTKIQKGFRSIVVYLTALDTNGDYIAVGSSIGMLYLYCRHLNQMRKY      1 - 70
NFEGKTESITVVKLLSCFDDLVAAGTASGRVAVFQLVSSLPGRNKQLRRFDVTGIHKNSITALAWSPNGM     71 - 140
KLFSGDDKGKIVYSSLDLDQGLCNSQLVLEEPSSIVQLDYSQKVLLVSTLQRSLLFYTEEKSVRQIGTQP    141 - 210
RKSTGKFGACFIPGLCKQSDLTLYASRPGLRLWKADVHGTVQATFILKDAFAGGVKPFELHPRLESPNSG    211 - 280
SCSLPERHLGLVSCFFQEGWVLSWNEYSIYLLDTVNQATVAGLEGSGDIVSVSCTENEIFFLKGDRNIIR    281 - 350
ISSRPEGLTSTVRDGLEMSGCSERVHVQQAEKLPGATVSETRLRGSSMASSVASEPRSRSSSLNSTDSGS    351 - 420
GLLPPGLQATPELGKGSQPLSQRFNAISSEDFDQELVVKPIKVKRKKKKKKTEGGSRSTCHSSLESTPCS    421 - 490
EFPGDSPQSLNTDLLSMTSSVLGSSVDQLSAESPDQESSFNGEVNGVPQENTDPETFNVLEVSGSMPDSL    491 - 560
AEEDDIRTEMPHCHHAHGRELLNGAREDVGGSDVTGLGDEPCPADDGPNSTQLPFQEQDSSPGAHDGEDI    561 - 630
QPIGPQSTFCEVPLLNSLTVPSSLSWAPSAEQWLPGTRADEGSPVEPSQEQDILTSMEASGHLSTNLWHA    631 - 700
VTDDDTGQKEIPISERVLGSVGGQLTPVSALAASTHKPWLEQPPRDQTLTSSDEEDIYAHGLPSSSSETS    701 - 770
VTELGPSCSQQDLSRLGAEDAGLLKPDQFAESWMGYSGPGYGILSLVVSEKYIWCLDYKGGLFCSALPGA    771 - 840
GLRWQKFEDAVQQVAVSPSGALLWKIEQKSNRAFACGKVTIKGKRHWYEALPQAVFVALSDDTAWIIRTS    841 - 910
GDLYLQTGLSVDRPCARAVKVDCPYPLSQITARNNVVWALTEQRALLYREGVSSFCPEGEQWKCDIVSER    911 - 980
QALEPVCITLGDQQTLWALDIHGNLWFRTGIISKKPQGDDDHWWQVSITDYVVFDQCSLFQTIIHATHSV    981 - 1050
ATAAQAPVEKVADKLRMAFWSQQLQCQPSLLGVNNSGVWISSGKNEFHVAKGSLIGTYWNHVVPRGTASA   1051 - 1120
TKWAFVLASAAPTKEGSFLWLCQSSKDLCSVSAQSAQSRPSTVQLPPEAEMRAYAACQDALWALDSLGQV   1121 - 1190
FIRTLSKSCPTGMHWTRLDLSQLGAVKLTSLACGNQHIWACDSRGGVYFRVGTQPLNPSLMLPAWIMIEP   1191 - 1260
PVQPAGVSLVSVHSSPNDQMLWVLDSRWNVHVRTGITEEMPVGTAWEHVPGLQACQLALSTRTVWARCPN   1261 - 1330
GDLARRYGVTDKNPAGDYWKKIPGSVSCFTVTASDELWAVGPPGYLLQRLTKTFSHSHGTQKSSQAAMPH   1331 - 1400
PEDLEDEWEVI                                                              1401 - 1411
//

Text Mined References (13)

PMID Year Title
27406698 2016 WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.
26542466 2016 TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.
26431026 2015 TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.
24957906 2014 A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
23439247 2013 TECPR2: a new autophagy link for neurodegeneration.
23176824 2012 Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
20562859 2010 Network organization of the human autophagy system.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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