Property Summary

NCBI Gene PubMed Count 18
Grant Count 7
R01 Count 5
Funding $289,494.37
PubMed Score 12.77
PubTator Score 7.22

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
malignant mesothelioma -2.100 0.000
esophageal adenocarcinoma 1.800 0.019
astrocytoma -1.400 0.000
glioblastoma -1.800 0.000
osteosarcoma 1.759 0.002
posterior fossa group B ependymoma -3.000 0.000
atypical teratoid/rhabdoid tumor -2.600 0.000
non-small cell lung cancer 1.127 0.000
fibroadenoma 1.700 0.017
pediatric high grade glioma -1.700 0.000
group 4 medulloblastoma 1.400 0.003
pilocytic astrocytoma -1.600 0.000
subependymal giant cell astrocytoma -2.623 0.023
lung adenocarcinoma 1.800 0.000
lung carcinoma 2.900 0.000
Pick disease -1.400 0.023
ductal carcinoma in situ 1.200 0.012
invasive ductal carcinoma 1.600 0.026

Gene RIF (5)

PMID Text
26698217 SEZ6L2 can partially correct the cathepsin D hypersecretion.
21394203 These results provide an extensive ascertainment of the genetic variability of SEZ6L2 in human populations and do not support a major role for SEZ6L2 sequence variations in the susceptibility to autism spectrum disorders.
19260139 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19242545 significant association between autism and a coding variant in the seizure-related gene SEZ6L2 gene; SEZ6L2 expression in human fetal brain was highest in post-mitotic cortical layers, hippocampus, amygdala, and thalamus
19242545 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MGTPRAQHPPPPQLLFLILLSCPWIQGLPLKEEEILPEPGSETPTVASEALAELLHGALLRRGPEMGYLP      1 - 70
GSDRDPTLATPPAGQTLAVPSLPRATEPGTGPLTTAVTPNGVRGAGPTAPELLTPPPGTTAPPPPSPASP     71 - 140
GPPLGPEGGEEETTTTIITTTTVTTTVTSPVLCNNNISEGEGYVESPDLGSPVSRTLGLLDCTYSIHVYP    141 - 210
GYGIEIQVQTLNLSQEEELLVLAGGGSPGLAPRLLANSSMLGEGQVLRSPTNRLLLHFQSPRVPRGGGFR    211 - 280
IHYQAYLLSCGFPPRPAHGDVSVTDLHPGGTATFHCDSGYQLQGEETLICLNGTRPSWNGETPSCMASCG    281 - 350
GTIHNATLGRIVSPEPGGAVGPNLTCRWVIEAAEGRRLHLHFERVSLDEDNDRLMVRSGGSPLSPVIYDS    351 - 420
DMDDVPERGLISDAQSLYVELLSETPANPLLLSLRFEAFEEDRCFAPFLAHGNVTTTDPEYRPGALATFS    421 - 490
CLPGYALEPPGPPNAIECVDPTEPHWNDTEPACKAMCGGELSEPAGVVLSPDWPQSYSPGQDCVWGVHVQ    491 - 560
EEKRILLQVEILNVREGDMLTLFDGDGPSARVLAQLRGPQPRRRLLSSGPDLTLQFQAPPGPPNPGLGQG    561 - 630
FVLHFKEVPRNDTCPELPPPEWGWRTASHGDLIRGTVLTYQCEPGYELLGSDILTCQWDLSWSAAPPACQ    631 - 700
KIMTCADPGEIANGHRTASDAGFPVGSHVQYRCLPGYSLEGAAMLTCYSRDTGTPKWSDRVPKCALKYEP    701 - 770
CLNPGVPENGYQTLYKHHYQAGESLRFFCYEGFELIGEVTITCVPGHPSQWTSQPPLCKVTQTTDPSRQL    771 - 840
EGGNLALAILLPLGLVIVLGSGVYIYYTKLQGKSLFGFSGSHSYSPITVESDFSNPLYEAGDTREYEVSI    841 - 910
//

Text Mined References (21)

PMID Year Title
26698217 2016 Cathepsin D and its newly identified transport receptor SEZ6L2 can modulate neurite outgrowth.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
23273568 2013 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
23006423 2012 Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
21394203 2011 Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
20503337 2010 Duplication 16p11.2 in a child with infantile seizure disorder.
19838169 2009 Enrichment of glycopeptides for glycan structure and attachment site identification.
19260139 2009 Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
19242545 2009 Association and mutation analyses of 16p11.2 autism candidate genes.
More...