• Gene id: 80343

Gene Summary

• Gene Symbol: SEL1L2   Gene   UCSC   Ensembl
• Aliases: C20orf50, sel-1L2
• Gene name: SEL1L2 adaptor subunit of ERAD E3 ligase
• Alternate names: protein sel-1 homolog 2, SEL1L2, ERAD E3 ligase adaptor subunit, sel-1 suppressor of lin-12-like 2, suppressor of lin-12-like protein 2,
• Gene location: 20p12.1 (13995332: 13848585)     Exons: 16     NC_000020.11
• OMIM: 614289

Protein Summary

• Protein general information: Q5TEA6  
  • Name: Protein sel 1 homolog 2 (Suppressor of lin 12 like protein 2) (Sel 1L2)
  • Length: 688  
  • Mass: 77964
• Sequence:

  MKPLSLLIEILIILGVTIKTIKAEEHNKRQKERNVTTQVSVNEIKQYLSHILEQRTSSNVINKRENLLEKKKNQR
  KIRIKGIQNKDILKRNKNHLQKQAEKNFTDEGDQLFKMGIKVLQQSKSQKQKEEAYLLFAKAADMGNLKAMEKMA
  DALLFGNFGVQNITAAIQLYESLAKEGSCKAQNALGFLSSYGIGMEYDQAKALIYYTFGSAGGNMMSQMILGYRY
  LSGINVLQNCEVALSYYKKVADYIADTFEKSEGVPVEKVRLTERPENLSSNSEILDWDIYQYYKFLAERGDVQIQ
  VSLGQLHLIGRKGLDQDYYKALHYFLKAAKAGSANAMAFIGKMYLEGNAAVPQNNATAFKYFSMAASKGNAIGLH
  GLGLLYFHGKGVPLNYAEALKYFQKAAEKGWPDAQFQLGFMYYSGSGIWKDYKLAFKYFYLASQSGQPLAIYYLA
  KMYATGTGVVRSCRTAVELYKGVCELGHWAEKFLTAYFAYKDGDIDSSLVQYALLAEMGYEVAQSNSAFILESKK
  ANILEKEKMYPMALLLWNRAAIQGNAFARVKIGDYHYYGYGTKKDYQTAATHYSIAANKYHNAQAMFNLAYMYEH
  GLGITKDIHLARRLYDMAAQTSPDAHIPVLFAVMKLETTHLLRDILFFNFTTRWNWLKLDNTIGPHWDLFVIGLI
  VPGLILLLRNHHG

• Structural information:
  • Interpro: IPR006597  IPR011990  
  • STRING: ENSP00000367312
• Other Databases: GeneCards:  SEL1L2  Malacards:  SEL1L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0000839	Hrd1p ubiquitin ligase ERAD-L complex	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq