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 c... See more...

Aliases for SEZ6L2 Gene

Aliases for SEZ6L2 Gene

  • Seizure Related 6 Homolog Like 2 2 3 5
  • Seizure 6-Like Protein 2 3 4
  • Type I Transmembrane Receptor (Seizure-Related Protein) 3
  • Type I Transmembrane Receptor (Seizure Related Protein) 2
  • Seizure Related 6 Homolog (Mouse)-Like 2 2
  • Seizure Related 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 and Axillary Adenitis. An important paralog of this gene is SEZ6.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
GH16J029898 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -1.0 -954 4.6 ZNF217 CTCF SIN3A POLR2G NONO PHF8 JUND ZNF639 ZIC2 REST INO80E ASPHD1 SEZ6L2 lnc-KCTD13-1 ZNF785 MIR762HG TAOK2 CDIPTOSP LOC730183 SMG1P2
GH16J029877 Enhancer 0.7 ENCODE 13 +21.9 21862 0.3 NRF1 CTBP1 EZH2 KLF9 SP2 CREB3L1 IRF1 FOXK2 PRDM10 NCOA1 ASPHD1 SEZ6L2 TMEM219 TAOK2 DOC2A MVP HIRIP3 INO80E C16orf92 TLCD3B
GH16J029876 Enhancer 0.4 ENCODE 13 +23.1 23142 0.2 KLF8 VEZF1 L3MBTL2 EZH2 MVP ASPHD1 SEZ6L2 TMEM219 TAOK2 DOC2A C16orf92 TLCD3B C16orf54 piR-47259
GH16J029736 Enhancer 0.9 ENCODE dbSUPER 4.4 +160.4 160400 5.8 RFX1 RELA MYC TRIM25 CTBP1 POLR2A CTCF FOXA2 ZNF316 ZBTB17 RN7SKP127 SRCAP SEZ6L2 MYLPF ENSG00000260719 RF00100-049 lnc-C16orf54-1
GH16J029891 Enhancer 1 Ensembl ENCODE 0.4 +6.9 6883 2.7 EP300 POLR2G NCOR1 KDM6A ZBTB25 TGIF2 SKI TEAD1 ZKSCAN8 ZSCAN9 ENSG00000261367 SEZ6L2 lnc-KCTD13-2 lnc-ASPHD1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEZ6L2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEZ6L2

Top Transcription factor binding sites by QIAGEN in the SEZ6L2 gene promoter:
  • c-Myb
  • CP2
  • HOXA5
  • Lmo2
  • MAZR
  • RFX1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • Zic3

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)
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.
  • Glycosylation at Thr96, Thr100, Thr104, Thr105, Thr108, Asn176, Asn222, Asn247, Asn332, Asn355, Asn373, Asn473, Asn517, and Asn641
  • Ubiquitination at Lys873
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SE6L2_HUMAN (1974)

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

Protein Domains for SEZ6L2 Gene

Blocks:
  • Sushi domain/SCR domain/CCP module
  • CUB domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SEZ6L2 Gene

GenScript: Design optimal peptide antigens:
  • SEZ6L2 protein (Q9BW82_HUMAN)
  • Seizure 6-like protein 2 (SE6L2_HUMAN)

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

  • Taconic Biosciences Mouse Models for SEZ6L2

CRISPR 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 4
extracellular 3
endoplasmic reticulum 3
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

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

PathCards logo

SuperPathways for SEZ6L2 Gene

No Data Available

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

mRNA/cDNA for SEZ6L2 Gene

6 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for SEZ6L2 Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 98.18 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SEZ6L2 31 30
  • 91.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SEZ6L2 31 30
  • 90.7 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sez6l2 30
  • 88.7 (n)
mouse
(Mus musculus)
Mammalia Sez6l2 17 31 30
  • 88.37 (n)
oppossum
(Monodelphis domestica)
Mammalia SEZ6L2 31
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEZ6L2 31
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEZ6L2 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sez6l2 30
  • 66.47 (n)
Str.15743 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24635 30
zebrafish
(Danio rerio)
Actinopterygii sez6l2 31 30
  • 60.71 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for SEZ6L2: view image

Paralogs for SEZ6L2 Gene

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

  • SE6L2_HUMAN
  • H3BN26_HUMAN
  • I3L111_HUMAN
genes like me logo Genes that share paralogs with SEZ6L2: view

Variants for SEZ6L2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEZ6L2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
708823 Benign: not provided 29,897,950(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
710637 Benign: not provided 29,897,064(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
714157 Likely Benign: not provided 29,898,953(-) G/A MISSENSE_VARIANT
714704 Benign: not provided 29,897,111(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
717664 Likely Benign: not provided 29,887,700(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SEZ6L2 Gene

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)

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

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

Disorder Aliases PubMed IDs
autism
  • autistic disorder
axillary adenitis
  • axillary lymphadenitis
lung cancer
  • adenocarcinoma of lung
seizure disorder
  • epilepsy
- 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 23 54
  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 54
  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 54
  4. Genome-wide association study of anthropometric traits in Korcula Island, Croatia. (PMID: 19260139) Polasek O … Rudan I (Croatian medical journal 2009) 3 41 54
  5. Association and mutation analyses of 16p11.2 autism candidate genes. (PMID: 19242545) Kumar RA … Christian SL (PloS one 2009) 3 41 54

Products for SEZ6L2 Gene

Sources for SEZ6L2 Gene