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Aliases for SEZ6L2 Gene

Aliases for SEZ6L2 Gene

  • Seizure Related 6 Homolog Like 2 2 3 5
  • Type I Transmembrane Receptor (Seizure Related Protein) 2
  • Type I Transmembrane Receptor (Seizure-Related Protein) 3
  • Seizure Related 6 Homolog (Mouse)-Like 2 2
  • Seizure Related 6-Like Protein 2 3
  • Seizure 6-Like Protein 2 3
  • BSRPA 3
  • PSK-1 3
  • PSK 4

External Ids for SEZ6L2 Gene

Previous GeneCards Identifiers for SEZ6L2 Gene

  • GC16M029789
  • GC16M027543

Summaries for SEZ6L2 Gene

Entrez Gene Summary for SEZ6L2 Gene

  • This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

GeneCards Summary for SEZ6L2 Gene

SEZ6L2 (Seizure Related 6 Homolog Like 2) is a Protein Coding gene. An important paralog of this gene is SEZ6L.

UniProtKB/Swiss-Prot for SEZ6L2 Gene

  • May contribute to specialized endoplasmic reticulum functions in neurons.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEZ6L2 Gene

Genomics for SEZ6L2 Gene

Regulatory Elements for SEZ6L2 Gene

Enhancers for SEZ6L2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G029876 1.1 Ensembl ENCODE 12.9 +22.4 22439 1.9 HDGF PKNOX1 KLF1 CBX3 SAP30 ZNF140 ZMYM3 ZNF384 FOXK2 POLR2A MVP ASPHD1 SEZ6L2 TMEM219 TAOK2 DOC2A INO80E HIRIP3 C16orf92 FAM57B
GH16G029736 1.4 Ensembl ENCODE dbSUPER 4.4 +160.4 160401 5.8 HDAC1 FOXA2 YBX1 RAD21 ZNF121 GATA2 ZNF366 FOS RELB MIXL1 ENSG00000261766 CD2BP2 RN7SKP127 ZNF785 SEZ6L2 MYLPF ENSG00000260719
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEZ6L2 on UCSC Golden Path with GeneCards custom track

Promoters for SEZ6L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085125 -553 2201 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B

Genomic Location for SEZ6L2 Gene

Chromosome:
16
Start:
29,871,159 bp from pter
End:
29,899,547 bp from pter
Size:
28,389 bases
Orientation:
Minus strand

Genomic View for SEZ6L2 Gene

Genes around SEZ6L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEZ6L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEZ6L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEZ6L2 Gene

Proteins for SEZ6L2 Gene

  • Protein details for SEZ6L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXD5-SE6L2_HUMAN
    Recommended name:
    Seizure 6-like protein 2
    Protein Accession:
    Q6UXD5
    Secondary Accessions:
    • B7Z1N0
    • F5H293
    • H7BXQ6
    • Q9BW82
    • Q9UJ45
    • Q9UJ46
    • Q9UJ47

    Protein attributes for SEZ6L2 Gene

    Size:
    910 amino acids
    Molecular mass:
    97560 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • May serve as a prognostic marker for lung cancers.

    Alternative splice isoforms for SEZ6L2 Gene

neXtProt entry for SEZ6L2 Gene

Post-translational modifications for SEZ6L2 Gene

  • O-glycosylated with core 1 or possibly core 8 glycans.
  • Ubiquitination at Lys873
  • Glycosylation at isoforms=5, 6100, isoforms=2, 3, 4, 5176, Asn222, isoforms=2, 3, 4, 5247, Asn332, isoforms=2, 3, 4, 5, 6355, isoforms=2, 3, 4, 5, 6373, isoforms=2, 3, 4, 5, 6473, Asn517, and Asn641
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEZ6L2 Gene

Domains & Families for SEZ6L2 Gene

Gene Families for SEZ6L2 Gene

Protein Domains for SEZ6L2 Gene

Suggested Antigen Peptide Sequences for SEZ6L2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UXD5

UniProtKB/Swiss-Prot:

SE6L2_HUMAN :
  • Belongs to the SEZ6 family.
Family:
  • Belongs to the SEZ6 family.
genes like me logo Genes that share domains with SEZ6L2: view

Function for SEZ6L2 Gene

Molecular function for SEZ6L2 Gene

UniProtKB/Swiss-Prot Function:
May contribute to specialized endoplasmic reticulum functions in neurons.
UniProtKB/Swiss-Prot Induction:
Increased expression in the majority of primary lung cancers and lung-cell lines tested.
genes like me logo Genes that share phenotypes with SEZ6L2: view

Animal Models for SEZ6L2 Gene

MGI Knock Outs for SEZ6L2:

Animal Model Products

  • Taconic Biosciences Mouse Models for SEZ6L2

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for SEZ6L2 Gene

Localization for SEZ6L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEZ6L2 Gene

Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note=Detected on cell surface of lung-cancer.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEZ6L2 gene
Compartment Confidence
plasma membrane 5
extracellular 3
endoplasmic reticulum 3
peroxisome 1
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for SEZ6L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with SEZ6L2: view

Pathways & Interactions for SEZ6L2 Gene

SuperPathways for SEZ6L2 Gene

No Data Available

Interacting Proteins for SEZ6L2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000312550%0d%0a9606.ENSP00000360871%0d%0a
Selected Interacting proteins: ENSP00000312550 Q6UXD5-SE6L2_HUMAN for SEZ6L2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SEZ6L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008344 adult locomotory behavior IEA --
GO:0021680 cerebellar Purkinje cell layer development IEA --
GO:0060074 synapse maturation IEA --
GO:0090036 regulation of protein kinase C signaling IEA --
genes like me logo Genes that share ontologies with SEZ6L2: view

No data available for Pathways by source and SIGNOR curated interactions for SEZ6L2 Gene

Drugs & Compounds for SEZ6L2 Gene

(1) Drugs for SEZ6L2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SEZ6L2: view

Transcripts for SEZ6L2 Gene

Unigene Clusters for SEZ6L2 Gene

Seizure related 6 homolog (mouse)-like 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEZ6L2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: -
SP2: - -
SP3: - - -
SP4: - -
SP5: -
SP6: -

Relevant External Links for SEZ6L2 Gene

GeneLoc Exon Structure for
SEZ6L2
ECgene alternative splicing isoforms for
SEZ6L2

Expression for SEZ6L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEZ6L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEZ6L2 Gene

This gene is overexpressed in Pituitary (x4.9), Brain - Cortex (x4.8), Brain - Cerebellum (x4.6), Brain - Frontal Cortex (BA9) (x4.3), and Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for SEZ6L2 Gene

This gene is overexpressed in Pancreas (21.6), Vitreous humor (13.8), Bone marrow mesenchymal stem cell (11.8), and Cerebrospinal fluid (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SEZ6L2 Gene



NURSA nuclear receptor signaling pathways regulating expression of SEZ6L2 Gene:

SEZ6L2

SOURCE GeneReport for Unigene cluster for SEZ6L2 Gene:

Hs.6314

Evidence on tissue expression from TISSUES for SEZ6L2 Gene

  • Nervous system(4.9)
  • Eye(2.4)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with SEZ6L2: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEZ6L2 Gene

Orthologs for SEZ6L2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEZ6L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEZ6L2 34 35
  • 98.18 (n)
dog
(Canis familiaris)
Mammalia SEZ6L2 34 35
  • 91.27 (n)
cow
(Bos Taurus)
Mammalia SEZ6L2 34 35
  • 90.7 (n)
rat
(Rattus norvegicus)
Mammalia Sez6l2 34
  • 88.7 (n)
mouse
(Mus musculus)
Mammalia Sez6l2 34 16 35
  • 88.37 (n)
oppossum
(Monodelphis domestica)
Mammalia SEZ6L2 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEZ6L2 35
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEZ6L2 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sez6l2 34
  • 66.47 (n)
Str.15743 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24635 34
zebrafish
(Danio rerio)
Actinopterygii sez6l2 34 35
  • 60.71 (n)
Species where no ortholog for SEZ6L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SEZ6L2 Gene

ENSEMBL:
Gene Tree for SEZ6L2 (if available)
TreeFam:
Gene Tree for SEZ6L2 (if available)

Paralogs for SEZ6L2 Gene

Paralogs for SEZ6L2 Gene

(3) SIMAP similar genes for SEZ6L2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SEZ6L2: view

Variants for SEZ6L2 Gene

Sequence variations from dbSNP and Humsavar for SEZ6L2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs869025256 Likely benign 29,897,010(-) CGTCA(C/T)CCCTA intron-variant, reference, missense
rs1000141771 -- 29,886,062(+) TGATG(A/T)TGAAG intron-variant
rs1000360762 -- 29,900,402(+) GCACC(G/T)TGGCC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000448850 -- 29,894,753(+) TCCCT(A/C)GGATG intron-variant
rs1000513429 -- 29,885,717(+) CGGGG(A/G)ATAGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SEZ6L2 Gene

Variant ID Type Subtype PubMed ID
esv3638374 CNV loss 21293372
esv3638375 CNV loss 21293372
nsv103231 CNV deletion 16902084
nsv1131236 CNV deletion 24896259
nsv457482 CNV loss 19166990
nsv571818 CNV loss 21841781

Variation tolerance for SEZ6L2 Gene

Residual Variation Intolerance Score: 8.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.08; 68.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SEZ6L2 Gene

Human Gene Mutation Database (HGMD)
SEZ6L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEZ6L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEZ6L2 Gene

Disorders for SEZ6L2 Gene

Relevant External Links for SEZ6L2

Genetic Association Database (GAD)
SEZ6L2
Human Genome Epidemiology (HuGE) Navigator
SEZ6L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEZ6L2

No disorders were found for SEZ6L2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SEZ6L2 Gene

Publications for SEZ6L2 Gene

  1. Characterization of SEZ6L2 cell-surface protein as a novel prognostic marker for lung cancer. (PMID: 16863507) Ishikawa N. … Nakamura Y. (Cancer Sci. 2006) 3 4 22 64
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4 64
  3. Cathepsin D and its newly identified transport receptor SEZ6L2 can modulate neurite outgrowth. (PMID: 26698217) Boonen M. … Jadot M. (J. Cell. Sci. 2016) 2 3 64
  4. Association and mutation analyses of 16p11.2 autism candidate genes. (PMID: 19242545) Kumar R.A. … Christian S.L. (PLoS ONE 2009) 3 46 64
  5. Genome-wide association study of anthropometric traits in Korcula Island, Croatia. (PMID: 19260139) Polasek O. … Rudan I. (Croat. Med. J. 2009) 3 46 64

Products for SEZ6L2 Gene

Sources for SEZ6L2 Gene

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