Property Summary

NCBI Gene PubMed Count 10
Grant Count 4
R01 Count 2
Funding $374,264
PubMed Score 6.02
PubTator Score 3.61

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
astrocytic glioma -2.200 0.001
oligodendroglioma -1.900 0.000
glioblastoma -3.400 0.000
group 3 medulloblastoma -2.000 0.001
atypical teratoid / rhabdoid tumor -4.200 0.000
medulloblastoma, large-cell -2.800 0.000
primitive neuroectodermal tumor -2.900 0.000
pediatric high grade glioma -2.600 0.000
pilocytic astrocytoma -1.800 0.000
non primary Sjogren syndrome sicca -1.200 0.028
lung carcinoma 5.700 0.000
pituitary cancer 1.100 0.000
psoriasis -1.900 0.000

Gene RIF (5)

PMID Text
25504045 Homozygous mutation of STXBP5L is associated with autosomal recessive infantile-onset neurodegenerative disorder.
25504045 A homozygous nonsynonymous mutation in STXBP5L (c.3127G>A, p.Val1043Ile [CCDS43137.1]) was implicated in an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit.
23223146 In skin aging rs322458, was in linkage disequilibrium (LD) with intronic single nucleotide polymorphisms of the STXBP5L gene, which is expressed in the skin.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19586676 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MKKFNFRKVLDGLTASSPGSGSSSGSNSGGGAGSGSVHPAGTAGVLREEIQETLTSEYFQICKTVRHGFP      1 - 70
HQPTALAFDPVQKILAIGTRTGAIRILGRPGVDCYCQHESGAAVLQLQFLINEGALVSASSDDTLHLWNL     71 - 140
RQKRPAILHSLKFNRERITYCHLPFQSKWLYVGTERGNTHIVNIESFILSGYVIMWNKAIELSTKTHPGP    141 - 210
VVHLSDSPRDEGKLLIGYENGTVVFWDLKSKRAELRVYYDEAIHSIDWHHEGKQFMCSHSDGSLTLWNLK    211 - 280
SPSRPFQTTIPHGKSQREGRKSESCKPILKVEYKTCKNSEPFIIFSGGLSYDKACRRPSLTIMHGKAITV    281 - 350
LEMDHPIVEFLTLCETPYPNEFQEPYAVVVLLEKDLIVVDLTQSNFPIFENPYPMDIHESPVTCTAYFAD    351 - 420
CPPDLILVLYSIGVKHKKQGYSNKEWPISGGAWNLGAQTYPEIIITGHADGSIKFWDASAITLQMLYKLK    421 - 490
TSKVFEKQKVGEGKQTCEIVEEDPFAIQMIYWCPESRIFCVSGVSAYVIIYKFSRHEITTEIVSLEVRLQ    491 - 560
YDVEDIITPEPETSPPFPDLSAQLPSSRSLSGSTNTVASEGVTKDSIPCLNVKTRPVRMPPGYQAELVIQ    561 - 630
LVWVDGEPPQQITSLAVSSAYGIVAFGNCNGLAVVDFIQKTVLLSMGTIDLYRSSDLYQRQPRSPRKNKQ    631 - 700
FIADNFCMRGLSNFYPDLTKRIRTSYQSLTELNDSPVPLELERCKSPTSDHVNGHCTSPTSQSCSSGKRL    701 - 770
SSADVSKVNRWGPGRPPFRKAQSAACMEISLPVTTEENRENSYNRSRSSSISSIDKDSKEAITALYFMDS    771 - 840
FARKNDSTISPCLFVGTSLGMVLIISLNLPLADEQRFTEPVMVLPSGTFLSLKGAVLTFSCMDRMGGLMQ    841 - 910
PPYEVWRDPNNIDENEKSWRRKVVMNSSSASQEIGDHQYTIICSEKQAKVFSLPSQTCLYVHNITETSFI    911 - 980
LQANVVVMCSSACLACFCANGHIMIMSLPSLRPMLDVNYLPLTDMRIARTFCFTNEGQALYLVSPTEIQR    981 - 1050
LTYSQEMCDNLQDMLGDLFTPIETPEAQNRGFLKGLFGGSGQTFDREELFGEASAGKASRSLAQHIPGPG   1051 - 1120
SIEGMKGAAGGVMGELTRARIALDERGQRLGELEEKTAGMMTSAEAFSKHAHELMLKYKDKKWYQF       1121 - 1186
//

Text Mined References (11)

PMID Year Title
25504045 2015 Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.
24554482 2014 Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
23223146 2013 A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19586676 2009 Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14767561 2004 Identification and characterization of human LLGL4 gene and mouse Llgl4 gene in silico.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10231032 1999 Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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