Property Summary

NCBI Gene PubMed Count 18
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 1.4e-06
esophageal adenocarcinoma 1.800 1.9e-02
astrocytoma -1.400 2.2e-10
glioblastoma -1.800 7.0e-09
osteosarcoma 1.759 2.0e-03
posterior fossa group B ependymoma -3.000 1.8e-11
atypical teratoid/rhabdoid tumor -2.600 7.8e-08
non-small cell lung cancer 1.127 5.4e-09
fibroadenoma 1.700 1.7e-02
pediatric high grade glioma -1.700 7.4e-06
group 4 medulloblastoma 1.400 2.9e-03
pilocytic astrocytoma -1.600 7.8e-07
subependymal giant cell astrocytoma -2.623 2.3e-02
lung adenocarcinoma 1.800 1.6e-07
lung carcinoma 2.900 6.7e-50
Pick disease -1.400 2.3e-02
ductal carcinoma in situ 1.200 1.2e-02
invasive ductal carcinoma 1.600 2.6e-02

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.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16863507 2006 Characterization of SEZ6L2 cell-surface protein as a novel prognostic marker for lung cancer.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
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.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.