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Aliases for SEL1L2 Gene

Aliases for SEL1L2 Gene

  • SEL1L2 ERAD E3 Ligase Adaptor Subunit 2 3 5
  • Suppressor Of Lin-12-Like Protein 2 3 4
  • C20orf50 3 4
  • Sel-1L2 3 4
  • Sel-1 Suppressor Of Lin-12-Like 2 (C. Elegans) 2
  • Chromosome 20 Open Reading Frame 50 2
  • Sel-1 Suppressor Of Lin-12-Like 2 3
  • Protein Sel-1 Homolog 2 3

External Ids for SEL1L2 Gene

Previous HGNC Symbols for SEL1L2 Gene

  • C20orf50

Previous GeneCards Identifiers for SEL1L2 Gene

  • GC20M013779

Summaries for SEL1L2 Gene

GeneCards Summary for SEL1L2 Gene

SEL1L2 (SEL1L2 ERAD E3 Ligase Adaptor Subunit) is a Protein Coding gene. Among its related pathways are Protein processing in endoplasmic reticulum. An important paralog of this gene is SEL1L.

Additional gene information for SEL1L2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEL1L2 Gene

Genomics for SEL1L2 Gene

GeneHancer (GH) Regulatory Elements for SEL1L2 Gene

Promoters and enhancers for SEL1L2 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
GH20I013994 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 556.3 +0.7 742 1.8 PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A ZNF335 GLIS2 KLF7 RCOR1 SEL1L2 MACROD2
GH20I013990 Promoter/Enhancer 0.9 EPDnew ENCODE 555.7 +6.0 5991 0.7 RFX1 BMI1 SEL1L2 TRE-CTC10-1 MACROD2
GH20I013865 Enhancer 0.9 FANTOM5 Ensembl ENCODE 0.1 +130.4 130400 1.3 JUND POLR2A HLF GC20P013817 GC20M013973 SEL1L2
GH20I013868 Enhancer 0.7 Ensembl ENCODE 0.1 +127.7 127742 1 JUND POLR2A MAX GABPA NDUFAF5 GC20P013817 GC20M013973 SEL1L2
GH20I013913 Enhancer 0.2 ENCODE 0.2 +82.6 82593 0.2 GC20M013973 SEL1L2 GC20P013817
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SEL1L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEL1L2 gene promoter:

Genomic Locations for SEL1L2 Gene

Genomic Locations for SEL1L2 Gene
chr20:13,849,188-13,996,443
(GRCh38/hg38)
Size:
147,256 bases
Orientation:
Minus strand
chr20:13,829,893-13,977,089
(GRCh37/hg19)

Genomic View for SEL1L2 Gene

Genes around SEL1L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEL1L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEL1L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEL1L2 Gene

Proteins for SEL1L2 Gene

  • Protein details for SEL1L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TEA6-SE1L2_HUMAN
    Recommended name:
    Protein sel-1 homolog 2
    Protein Accession:
    Q5TEA6
    Secondary Accessions:
    • B4DXX5

    Protein attributes for SEL1L2 Gene

    Size:
    688 amino acids
    Molecular mass:
    77964 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI22078.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22983.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SEL1L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEL1L2 Gene

Post-translational modifications for SEL1L2 Gene

No data available for DME Specific Peptides for SEL1L2 Gene

Domains & Families for SEL1L2 Gene

Gene Families for SEL1L2 Gene

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

Protein Domains for SEL1L2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q5TEA6

UniProtKB/Swiss-Prot:

SE1L2_HUMAN :
  • Belongs to the sel-1 family.
Family:
  • Belongs to the sel-1 family.
genes like me logo Genes that share domains with SEL1L2: view

Function for SEL1L2 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SEL1L2 Gene

Localization for SEL1L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEL1L2 Gene

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 SEL1L2 gene
Compartment Confidence
endoplasmic reticulum 3
extracellular 1

Gene Ontology (GO) - Cellular Components for SEL1L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SEL1L2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SEL1L2 Gene

Pathways & Interactions for SEL1L2 Gene

genes like me logo Genes that share pathways with SEL1L2: view

Pathways by source for SEL1L2 Gene

1 KEGG pathway for SEL1L2 Gene

Interacting Proteins for SEL1L2 Gene

Gene Ontology (GO) - Biological Process for SEL1L2 Gene

None

No data available for SIGNOR curated interactions for SEL1L2 Gene

Drugs & Compounds for SEL1L2 Gene

No Compound Related Data Available

Transcripts for SEL1L2 Gene

Unigene Clusters for SEL1L2 Gene

Sel-1 suppressor of lin-12-like 2 (C. elegans):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEL1L2 Gene

No ASD Table

Relevant External Links for SEL1L2 Gene

GeneLoc Exon Structure for
SEL1L2
ECgene alternative splicing isoforms for
SEL1L2

Expression for SEL1L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEL1L2 Gene

mRNA differential expression in normal tissues according to GTEx for SEL1L2 Gene

This gene is overexpressed in Testis (x26.1).

Protein differential expression in normal tissues from HIPED for SEL1L2 Gene

This gene is overexpressed in Fetal testis (63.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SEL1L2 Gene



Protein tissue co-expression partners for SEL1L2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SEL1L2 Gene:

SEL1L2

SOURCE GeneReport for Unigene cluster for SEL1L2 Gene:

Hs.590879
genes like me logo Genes that share expression patterns with SEL1L2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEL1L2 Gene

Orthologs for SEL1L2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEL1L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEL1L2 34
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEL1L2 34
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sel1l2 34
  • 68 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SEL1L2 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEL1L2 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEL1L2 34
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-24p1.6 34
  • 9 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Hrd3 34
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sel-1 34
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRD3 34
  • 9 (a)
OneToMany
SKT5 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5716 34
  • 32 (a)
OneToMany
Species where no ortholog for SEL1L2 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SEL1L2 Gene

ENSEMBL:
Gene Tree for SEL1L2 (if available)
TreeFam:
Gene Tree for SEL1L2 (if available)

Paralogs for SEL1L2 Gene

Paralogs for SEL1L2 Gene

(1) SIMAP similar genes for SEL1L2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SEL1L2: view

Variants for SEL1L2 Gene

Sequence variations from dbSNP and Humsavar for SEL1L2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000002052 -- 13,887,063(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000029244 -- 13,981,069(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000076129 -- 13,925,337(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000076952 -- 13,907,484(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000088708 -- 13,952,691(-) T/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SEL1L2 Gene

Variant ID Type Subtype PubMed ID
nsv952988 CNV deletion 24416366
nsv585437 CNV loss 21841781
nsv513537 CNV insertion 21212237
nsv509762 CNV insertion 20534489
nsv473219 CNV novel sequence insertion 20440878
nsv3296 CNV insertion 18451855
nsv3295 CNV insertion 18451855
nsv179414 CNV deletion 16902084
nsv1071678 CNV deletion 25765185
esv999444 CNV insertion 20482838
esv998605 CNV insertion 20482838
esv3645296 CNV loss 21293372
esv3645295 CNV gain 21293372
esv3645294 CNV gain 21293372
esv3363505 CNV duplication 20981092
esv3334433 CNV duplication 20981092
esv2663578 CNV deletion 23128226
esv1588937 CNV insertion 17803354
esv1553078 CNV insertion 17803354
esv1485899 CNV insertion 17803354
esv1388307 CNV insertion 17803354
dgv2214n106 CNV tandem duplication 24896259

Variation tolerance for SEL1L2 Gene

Residual Variation Intolerance Score: 84.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.01; 68.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEL1L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEL1L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEL1L2 Gene

Disorders for SEL1L2 Gene

Additional Disease Information for SEL1L2

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

No disorders were found for SEL1L2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SEL1L2 Gene

Publications for SEL1L2 Gene

  1. 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 44 58
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58
  4. Identification of a region within SEL1L protein required for tumour growth inhibition. (PMID: 14729273) Cattaneo M … Biunno I (Gene 2004) 3 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for SEL1L2 Gene

Sources for SEL1L2 Gene

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