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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. Diseases associated with SEZ6L2 include Autism. An important paralog of this gene is SEZ6.

UniProtKB/Swiss-Prot for SEZ6L2 Gene

  • May contribute to specialized endoplasmic reticulum functions in neurons.

Additional gene information for SEZ6L2 Gene

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

GeneHancer (GH) Regulatory Elements for SEZ6L2 Gene

Promoters and enhancers for SEZ6L2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I029898 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -1.0 -1001 3.8 PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 ASPHD1 SEZ6L2 GC16M029900 GC16M029899 ZNF785 ENSG00000260114 SMG1P5 SMG1P2 SRCAP MIR762HG
GH16I029876 Enhancer 0.9 Ensembl ENCODE 12.9 +22.4 22438 1.9 HDGF KLF1 PKNOX1 ZNF140 ZMYM3 CTBP1 FOXK2 POLR2A VEZF1 ATF7 INO80E NPIPB12 MVP NPIPB13 SRCAP ZNF764 ASPHD1 SEZ6L2 ZNF785 TMEM219
GH16I029736 Enhancer 1.2 Ensembl ENCODE dbSUPER 4.4 +160.4 160400 5.8 HDAC1 FOXA2 YBX1 RAD21 ZNF121 GATA2 ZNF366 FOS IKZF2 RUNX3 ENSG00000261766 SRCAP SH2B1 ZNF785 ATXN2L ZNF747 ENSG00000251417 NPIPB13 NPIPB12 TAOK2
GH16I029891 Enhancer 0.9 ENCODE 0.4 +6.9 6883 2.7 PKNOX1 ARID4B DMAP1 ZSCAN9 RARA TCF12 GATA2 CREM THAP11 MIXL1 ENSG00000261367 GC16M029899 GC16M029900 SEZ6L2 PIR40258 GC16M029747
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SEZ6L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEZ6L2 gene promoter:

Genomic Locations for SEZ6L2 Gene

Genomic Locations for SEZ6L2 Gene
chr16:29,871,159-29,899,547
(GRCh38/hg38)
Size:
28,389 bases
Orientation:
Minus strand
chr16:29,882,480-29,910,868
(GRCh37/hg19)

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 isoforms=2, 3, 5, 6873
  • Glycosylation at isoforms=5, 6100, isoforms=2, 3, 4, 5176, isoforms=2, 3, 4, 5222, isoforms=2, 3, 4, 5247, posLast=332332, isoforms=2, 3, 4, 5, 6355, posLast=373373, isoforms=2, 3, 4, 5, 6473, isoforms=2, 3, 4, 5, 6517, and isoforms=2, 3, 4, 5, 6641

No data available for DME Specific Peptides for SEZ6L2 Gene

Domains & Families for SEZ6L2 Gene

Gene Families for SEZ6L2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

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.

Phenotypes From GWAS Catalog for SEZ6L2 Gene

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

Animal Models for SEZ6L2 Gene

MGI Knock Outs for SEZ6L2:

Animal Model Products

Clone 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SEZ6L2 Gene

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:

Clone 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

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 33 34
  • 98.18 (n)
dog
(Canis familiaris)
Mammalia SEZ6L2 33 34
  • 91.27 (n)
cow
(Bos Taurus)
Mammalia SEZ6L2 33 34
  • 90.7 (n)
rat
(Rattus norvegicus)
Mammalia Sez6l2 33
  • 88.7 (n)
mouse
(Mus musculus)
Mammalia Sez6l2 33 16 34
  • 88.37 (n)
oppossum
(Monodelphis domestica)
Mammalia SEZ6L2 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEZ6L2 34
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEZ6L2 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sez6l2 33
  • 66.47 (n)
Str.15743 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24635 33
zebrafish
(Danio rerio)
Actinopterygii sez6l2 33 34
  • 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 Variation AA Info Type
rs869025256 likely-benign, Anophthalmia - microphthalmia 29,897,010(-) G/A coding_sequence_variant, intron_variant, missense_variant
rs1000141771 -- 29,886,062(-) A/T intron_variant
rs1000360762 -- 29,900,402(-) G/T upstream_transcript_variant
rs1000448850 -- 29,894,753(-) C/A intron_variant
rs1000513429 -- 29,885,717(-) G/A coding_sequence_variant, missense_variant

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

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

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for SEZ6L2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autism
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SEZ6L2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SEZ6L2: view

No data available for 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 science 2006) 3 4 22 58
  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 HF … Gray A (Genome research 2003) 2 3 4 58
  3. Cathepsin D and its newly identified transport receptor SEZ6L2 can modulate neurite outgrowth. (PMID: 26698217) Boonen M … Jadot M (Journal of cell science 2016) 2 3 58
  4. Association and mutation analyses of 16p11.2 autism candidate genes. (PMID: 19242545) Kumar RA … Christian SL (PloS one 2009) 3 44 58
  5. Genome-wide association study of anthropometric traits in Korcula Island, Croatia. (PMID: 19260139) Polasek O … Rudan I (Croatian medical journal 2009) 3 44 58

Products for SEZ6L2 Gene

Sources for SEZ6L2 Gene

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