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Aliases for SEZ6L Gene

Aliases for SEZ6L Gene

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

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. An important paralog of this gene is SEZ6.

UniProtKB/Swiss-Prot for SEZ6L Gene

  • May contribute to specialized endoplasmic reticulum functions in neurons.

Gene Wiki entry for SEZ6L Gene

Additional gene information for SEZ6L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEZ6L Gene

Genomics for SEZ6L Gene

Regulatory Elements for SEZ6L Gene

Enhancers for SEZ6L 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
GH22H026294 1.1 Ensembl ENCODE 10.2 +125.3 125313 1 HDGF PKNOX1 ZSCAN4 SIN3A ZNF266 YBX1 EBF1 BATF FOXK2 ATF7 LOC100507599 MIATNB RPL15P22 LINC01422 SEZ6L LOC105372974 RNA5SP495
GH22H026360 1 Ensembl ENCODE 10.1 +191.1 191127 0 CTCF ATF1 RB1 RAD21 E2F1 GLIS2 POLR2A SMC3 ZNF143 ATF7 SEZ6L RNA5SP495 LOC105372974
GH22H026196 0.8 ENCODE 11.6 +27.4 27376 0 ELF3 PKNOX1 FOXA2 RARA SCRT2 CREM CEBPB MIER2 KAT8 MIER3 SEZ6L LOC105372971 LINC02559 LOC105372974
GH22H026331 0.8 ENCODE 10.1 +161.7 161696 0 CTCF RB1 ARNT MAX CEBPG RAD21 RFX5 SMC3 ZNF143 RCOR1 LOC105372963 MYO18B SEZ6L RNA5SP495 LOC105372974
GH22H026657 1.8 FANTOM5 Ensembl ENCODE dbSUPER 3.6 +488.9 488850 2 PKNOX1 ATF1 SIN3A TCF12 GLIS2 ZNF143 KLF7 FOS ATF7 SP3 MIAT CRYBB1 CRYBA4 SRRD HPS4 TFIP11 TPST2 ENSG00000206028 SEZ6L ASPHD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEZ6L on UCSC Golden Path with GeneCards custom track

Promoters for SEZ6L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000144585 26 601 MXI1 SUZ12 REST ZIC2 POLR2A ZBTB26 EZH2 SPI1

Genomic Location for SEZ6L Gene

Chromosome:
22
Start:
26,169,474 bp from pter
End:
26,383,597 bp from pter
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=Translation N-terminally shortened.; 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, isoforms=2, 3, 4, 5, 6, 7311, Asn328, Asn350, isoforms=2, 3, 4, 5, 6, 7435, isoforms=2, 3, 4, 5, 6, 7458, isoforms=2, 3, 4, 5, 6, 7474, isoforms=2, 3, 4, 5, 6, 7514, Asn576, Asn618, Asn674, and isoforms=2, 3, 4, 5, 6, 7742
  • 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

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

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

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:

Animal Model Products

  • Taconic Biosciences Mouse Models for SEZ6L

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for SEZ6L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
endoplasmic reticulum 4
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for SEZ6L Gene

GO ID Qualified GO term Evidence PubMed IDs
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SEZ6L Gene

Pathways & Interactions for SEZ6L Gene

SuperPathways for SEZ6L Gene

No Data Available

Interacting Proteins for SEZ6L 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.ENSP00000248933%0d%0a9606.ENSP00000304360%0d%0a
Selected Interacting proteins: ENSP00000248933 Q9BYH1-SE6L1_HUMAN for SEZ6L Gene via STRING IID

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

Unigene Clusters for SEZ6L Gene

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

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for SEZ6L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
SEZ6L

Expression for SEZ6L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of SEZ6L Gene:

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(4.7)
genes like me logo Genes that share expression patterns with SEZ6L: view

Primer Products

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 33 34
  • 94.9 (n)
dog
(Canis familiaris)
Mammalia SEZ6L 33 34
  • 88.19 (n)
cow
(Bos Taurus)
Mammalia SEZ6L 33 34
  • 86.06 (n)
oppossum
(Monodelphis domestica)
Mammalia SEZ6L 34
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sez6l 33
  • 81.76 (n)
mouse
(Mus musculus)
Mammalia Sez6l 33 16 34
  • 81.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 29 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SEZ6L 33 34
  • 77.53 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 26 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sez6l 33
  • 69.33 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100331987 33
  • 68.28 (n)
sez6l 34
  • 58 (a)
OneToOne
Species where no ortholog for SEZ6L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 SEZ6L Gene

ENSEMBL:
Gene Tree for SEZ6L (if available)
TreeFam:
Gene Tree for SEZ6L (if available)

Paralogs for SEZ6L Gene

Paralogs for SEZ6L Gene

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

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

Variants for SEZ6L Gene

Sequence variations from dbSNP and Humsavar for SEZ6L Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs193920876 Uncertain significance 26,293,089(+) GCCAG(G/T)AGACC reference, stop-gained
rs193920909 Uncertain significance 26,310,665(+) CCACT(A/G)CCAGG intron-variant
rs1000000479 -- 26,309,904(+) TACCC(A/G)TTTTA intron-variant
rs1000024155 -- 26,295,911(+) GTCTC(A/G)TAGAG intron-variant
rs1000079757 -- 26,280,915(+) CACTT(A/G)TAATC intron-variant

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)

Relevant External Links for SEZ6L Gene

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

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

Disorders for SEZ6L Gene

Relevant External Links for SEZ6L

Genetic Association Database (GAD)
SEZ6L
Human Genome Epidemiology (HuGE) Navigator
SEZ6L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEZ6L

No disorders were found for SEZ6L Gene.

No data available for MalaCards , 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 22 45 60
  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 22 60
  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 45 60
  4. 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 45 60
  5. 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 45 60

Products for SEZ6L Gene

Sources for SEZ6L Gene

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