Aliases for SEZ6L Gene

Aliases for SEZ6L Gene

  • Seizure Related 6 Homolog Like 2 3 5
  • Seizure 6-Like Protein 3 4
  • Seizure Related Gene 6 (Mouse)-Like 2
  • Seizure Related Gene 6-Like 3
  • KIAA0927 4
  • SEZ6L 5

External Ids for SEZ6L Gene

Previous GeneCards Identifiers for SEZ6L Gene

  • GC22P023261
  • GC22P023384
  • GC22P024890
  • GC22P024889
  • GC22P026565
  • GC22P009512

Summaries for SEZ6L Gene

GeneCards Summary for SEZ6L Gene

SEZ6L (Seizure Related 6 Homolog Like) is a Protein Coding gene. Diseases associated with SEZ6L include Lung Cancer. An important paralog of this gene is SEZ6.

UniProtKB/Swiss-Prot Summary for SEZ6L Gene

  • May contribute to specialized endoplasmic reticulum functions in neurons.

Gene Wiki entry for SEZ6L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEZ6L Gene

Genomics for SEZ6L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEZ6L 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
GH22J026169 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 600.7 +0.2 239 1 ZIC2 EZH2 ZNF37A ZBTB26 POLR2A SPI1 ZNF398 GATA2 ENSG00000229770 LOC105372971 SEZ6L lnc-HPS4-6 ASPHD2
GH22J026168 Promoter/Enhancer 0.7 Ensembl ENCODE 600.7 -0.7 -661 0.4 ZSCAN5C EZH2 SP1 ENSG00000229770 LOC105372971 SEZ6L LOC102724801 MYO18B
GH22J026196 Enhancer 0.7 ENCODE 11.6 +27.4 27388 0.2 GATAD2A TFE3 RXRB PBX2 PKNOX1 CEBPA FOXK2 SCRT2 SOX13 RFX3 SEZ6L ENSG00000229770 LINC02559 lnc-HPS4-6 ASPHD2
GH22J026294 Enhancer 0.7 ENCODE 10.2 +125.3 125325 1.3 ZNF512 ZSCAN4 IKZF2 TRIM22 PKNOX1 YBX1 SIN3A RELB BCLAF1 ZBTB40 LOC100507599 MIATNB ENSG00000231369 LINC01422 SEZ6L piR-48209-478 SEZ6L-AS1 ASPHD2
GH22J026356 Enhancer 0.7 Ensembl 10.1 +187.4 187439 0.6 CREB1 ATF7 ZNF629 JUND SOX6 CEBPA NFE2 CEBPB ZNF316 JUN SEZ6L HSALNG0134628 piR-48820-063 ASPHD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEZ6L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEZ6L

Top Transcription factor binding sites by QIAGEN in the SEZ6L gene promoter:
  • ER-alpha
  • FOXD3
  • GATA-1
  • GATA-2
  • GATA-3
  • p53
  • POU2F1
  • SRF
  • SRF (504 AA)
  • YY1

Genomic Locations for SEZ6L Gene

Genomic Locations for SEZ6L Gene
chr22:26,169,462-26,383,597
(GRCh38/hg38)
Size:
214,136 bases
Orientation:
Plus strand
chr22:26,565,440-26,779,563
(GRCh37/hg19)
Size:
214,124 bases
Orientation:
Plus strand

Genomic View for SEZ6L Gene

Genes around SEZ6L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEZ6L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEZ6L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEZ6L Gene

Proteins for SEZ6L Gene

  • Protein details for SEZ6L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYH1-SE6L1_HUMAN
    Recommended name:
    Seizure 6-like protein
    Protein Accession:
    Q9BYH1
    Secondary Accessions:
    • A0AUW7
    • B0QYG4
    • B0QYG5
    • B7ZLJ6
    • G8JLP3
    • O95917
    • Q5THY5
    • Q6IBZ4
    • Q6UXD4
    • Q9NUI3
    • Q9NUI4
    • Q9NUI5
    • Q9Y2E1
    • Q9Y3J6

    Protein attributes for SEZ6L Gene

    Size:
    1024 amino acids
    Molecular mass:
    111782 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76771.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEZ6L Gene

    Alternative splice isoforms for SEZ6L Gene

neXtProt entry for SEZ6L Gene

Post-translational modifications for SEZ6L Gene

  • O-glycosylated.
  • Glycosylation at Ser49, Asn311, Asn328, Asn350, Asn435, Asn458, Asn474, Asn514, Asn576, Asn618, Asn674, and Asn742
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEZ6L Gene

Domains & Families for SEZ6L Gene

Gene Families for SEZ6L Gene

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

Protein Domains for SEZ6L Gene

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

Suggested Antigen Peptide Sequences for SEZ6L Gene

GenScript: Design optimal peptide antigens:
  • Seizure related 6 homolog (Mouse)-like (B0QYG3_HUMAN)
  • cDNA FLJ56593, highly similar to Seizure 6-like protein (B4DGV2_HUMAN)
  • SEZ6L protein (B7ZLJ6_HUMAN)
  • SEZ6L protein (B7ZLJ8_HUMAN)
  • Seizure 6-like protein (SE6L1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYH1

UniProtKB/Swiss-Prot:

SE6L1_HUMAN :
  • Belongs to the SEZ6 family.
Family:
  • Belongs to the SEZ6 family.
genes like me logo Genes that share domains with SEZ6L: view

Function for SEZ6L Gene

Molecular function for SEZ6L Gene

UniProtKB/Swiss-Prot Function:
May contribute to specialized endoplasmic reticulum functions in neurons.
GENATLAS Biochemistry:
seizure related gene 6 (mouse)-like

Phenotypes From GWAS Catalog for SEZ6L Gene

genes like me logo Genes that share phenotypes with SEZ6L: view

Animal Models for SEZ6L Gene

MGI Knock Outs for SEZ6L:
  • Sez6l Sez6l<tm1Hta>
  • Sez6l Sez6l<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for SEZ6L

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEZ6L

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEZ6L Gene

Localization for SEZ6L Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEZ6L Gene

Endoplasmic reticulum membrane. Single-pass type I membrane protein.

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 SEZ6L gene
Compartment Confidence
plasma membrane 3
endoplasmic reticulum 3
extracellular 1
cytoskeleton 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SEZ6L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum 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 SEZ6L: view

Pathways & Interactions for SEZ6L Gene

PathCards logo

SuperPathways for SEZ6L Gene

No Data Available

Interacting Proteins for SEZ6L Gene

Gene Ontology (GO) - Biological Process for SEZ6L 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 SEZ6L: view

No data available for Pathways by source and SIGNOR curated interactions for SEZ6L Gene

Drugs & Compounds for SEZ6L Gene

No Compound Related Data Available

Transcripts for SEZ6L Gene

mRNA/cDNA for SEZ6L Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEZ6L

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEZ6L Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^
SP1: - - -
SP2: - - -
SP3: - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - -
SP8: -
SP9:
SP10:

ExUns: 18a · 18b · 18c · 18d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for SEZ6L Gene

GeneLoc Exon Structure for
SEZ6L

Expression for SEZ6L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEZ6L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEZ6L Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x6.8), Brain - Hippocampus (x6.4), Brain - Hypothalamus (x6.3), Brain - Frontal Cortex (BA9) (x6.2), Brain - Cerebellar Hemisphere (x4.6), Brain - Cortex (x4.6), and Brain - Amygdala (x4.2).

Protein differential expression in normal tissues from HIPED for SEZ6L Gene

This gene is overexpressed in Cerebrospinal fluid (52.1) and Vitreous humor (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SEZ6L Gene



Protein tissue co-expression partners for SEZ6L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEZ6L

SOURCE GeneReport for Unigene cluster for SEZ6L Gene:

Hs.194766

mRNA Expression by UniProt/SwissProt for SEZ6L Gene:

Q9BYH1-SE6L1_HUMAN
Tissue specificity: Widely expressed, including adult and fetal brains and lungs. Not expressed in all lung cancer cell lines.

Evidence on tissue expression from TISSUES for SEZ6L Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with SEZ6L: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SEZ6L Gene

Orthologs for SEZ6L Gene

This gene was present in the common ancestor of chordates.

Orthologs for SEZ6L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEZ6L 30 31
  • 94.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SEZ6L 30 31
  • 88.19 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEZ6L 30 31
  • 86.06 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SEZ6L 31
  • 83 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sez6l 30
  • 81.76 (n)
Mouse
(Mus musculus)
Mammalia Sez6l 30 17 31
  • 81.5 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 29 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves SEZ6L 30 31
  • 77.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 26 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sez6l 30
  • 69.33 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100331987 30
  • 68.28 (n)
sez6l 31
  • 58 (a)
OneToOne
Species where no ortholog for SEZ6L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 Vase (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 SEZ6L Gene

ENSEMBL:
Gene Tree for SEZ6L (if available)
TreeFam:
Gene Tree for SEZ6L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEZ6L: view image

Paralogs for SEZ6L Gene

(3) SIMAP similar genes for SEZ6L Gene using alignment to 5 proteins:

  • SE6L1_HUMAN
  • B0QYH4_HUMAN
  • B0QYH5_HUMAN
  • B4DGV2_HUMAN
  • B7ZLJ8_HUMAN
genes like me logo Genes that share paralogs with SEZ6L: view

Variants for SEZ6L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEZ6L Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
709523 Benign: not provided 26,380,262(+) G/A INTRON_VARIANT
709708 Likely Benign: not provided 26,365,478(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
714838 Benign: not provided 26,296,956(+) C/T SYNONYMOUS_VARIANT
717984 Benign: not provided 26,310,731(+) G/A MISSENSE_VARIANT
720634 Benign: not provided 26,347,900(+) A/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SEZ6L Gene

Structural Variations from Database of Genomic Variants (DGV) for SEZ6L Gene

Variant ID Type Subtype PubMed ID
dgv1308e212 CNV loss 25503493
esv1931124 CNV deletion 18987734
esv3410779 CNV insertion 20981092
esv3558008 CNV deletion 23714750
esv3558012 CNV deletion 23714750
esv3568324 CNV loss 25503493
esv3568325 CNV loss 25503493
esv3568327 CNV loss 25503493
nsv1136664 CNV deletion 24896259
nsv3582 CNV insertion 18451855
nsv3583 CNV deletion 18451855
nsv469709 CNV loss 16826518
nsv7350 OTHER inversion 18451855
nsv829136 CNV loss 20364138
nsv829137 CNV loss 20364138
nsv834165 CNV gain+loss 17160897
nsv953064 CNV deletion 24416366

Variation tolerance for SEZ6L Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.78; 79.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEZ6L Gene

Human Gene Mutation Database (HGMD)
SEZ6L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEZ6L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEZ6L Gene

Disorders for SEZ6L Gene

MalaCards: The human disease database

(1) MalaCards diseases for SEZ6L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lung cancer
  • adenocarcinoma of lung
- elite association - COSMIC cancer census association via MalaCards
Search SEZ6L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SEZ6L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SEZ6L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEZ6L Gene

Publications for SEZ6L Gene

  1. Seizure 6-like (SEZ6L) gene and risk for lung cancer. (PMID: 17804757) Gorlov IP … Amos CI (Cancer research 2007) 3 23 41
  2. Identification of a 428-kb homozygously deleted region disrupting the SEZ6L gene at 22q12.1 in a lung cancer cell line. (PMID: 11175339) Nishioka M … Yokota J (Oncogene 2000) 3 4 23
  3. Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study. (PMID: 21901158) Irvin MR … Arnett DK (PloS one 2011) 3 41
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for SEZ6L Gene

Sources for SEZ6L Gene