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Aliases for SEL1L2 Gene

Aliases for SEL1L2 Gene

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

No data available for Entrez Gene 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

Regulatory Elements for SEL1L2 Gene

Promoters for SEL1L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SEL1L2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SEL1L2 Gene

Chromosome:
20
Start:
13,849,188 bp from pter
End:
13,996,443 bp from pter
Size:
147,256 bases
Orientation:
Minus strand

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

Proteomics data for SEL1L2 Gene at MOPED

Post-translational modifications for SEL1L2 Gene

  • Ubiquitination at Lys 101
  • Modification sites at PhosphoSitePlus

Other Protein References for SEL1L2 Gene

No data available for DME Specific Peptides for SEL1L2 Gene

Domains & Families for SEL1L2 Gene

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.
  • Contains 11 Sel1-like repeats.
Family:
  • Belongs to the sel-1 family.
Similarity:
  • Contains 11 Sel1-like repeats.
genes like me logo Genes that share domains with SEL1L2: view

No data available for Gene Families for SEL1L2 Gene

Function for SEL1L2 Gene

Animal Model Products

  • Taconic Biosciences Mouse Models for SEL1L2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for SEL1L2 Gene COMPARTMENTS Subcellular localization image for SEL1L2 gene
Compartment Confidence
endoplasmic reticulum 3
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components 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:

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 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



SOURCE GeneReport for Unigene cluster for SEL1L2 Gene Hs.590879

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

Protein tissue co-expression partners for SEL1L2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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 36
  • 80 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SEL1L2 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEL1L2 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sel1l2 36
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEL1L2 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEL1L2 36
  • 56 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-24p1.6 36
  • 9 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Hrd3 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sel-1 36
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRD3 36
  • 9 (a)
OneToMany
SKT5 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5716 36
  • 32 (a)
OneToMany
Species with no ortholog for SEL1L2:
  • 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 Sequence Context AA Info Type
rs2073290 - 13,849,491(+) TACCC(A/C)TGGTG nc-transcript-variant, downstream-variant-500B, reference, missense
rs11697581 - 13,865,490(+) GTGGC(C/G/T)TAGTT intron-variant, nc-transcript-variant, reference, missense
rs761811 -- 13,865,341(+) TAACT(C/T)ATCTT intron-variant
rs761812 -- 13,865,545(+) AGACT(A/G)GTTAG intron-variant
rs189668 -- 13,888,630(+) CTttc(C/T)ttctc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv912689 CNV Gain 21882294
nsv3295 CNV Insertion 18451855
esv999444 CNV Insertion 20482838
esv2663578 CNV Deletion 23128226
nsv509762 CNV Insertion 20534489
nsv3296 CNV Insertion 18451855
nsv513537 CNV Insertion 21212237
esv1388307 CNV Insertion 17803354
esv1553078 CNV Insertion 17803354
esv1485899 CNV Insertion 17803354
esv1588937 CNV Insertion 17803354
esv998605 CNV Insertion 20482838
nsv179414 CNV Loss 16902084

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)

Relevant External Links for SEL1L2 Gene

HapMap Linkage Disequilibrium report
SEL1L2

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

Disorders for SEL1L2 Gene

Relevant External Links for SEL1L2

Genetic Association Database (GAD)
SEL1L2
Human Genome Epidemiology (HuGE) Navigator
SEL1L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEL1L2

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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 48 67
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  3. Identification of a region within SEL1L protein required for tumour growth inhibition. (PMID: 14729273) Cattaneo M. … Biunno I. (Gene 2004) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for SEL1L2 Gene

Sources for SEL1L2 Gene

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