• Gene id: 3671

Gene Summary

• Gene Symbol: ISLR   Gene   UCSC   Ensembl
• Aliases: HsT17563, Meflin
• Gene name: immunoglobulin superfamily containing leucine rich repeat
• Alternate names: immunoglobulin superfamily containing leucine-rich repeat protein, mesenchymal stromal cell- and fibroblast-expressing Linx paralogue,
• Gene location: 15q24.1 (74173709: 74176870)     Exons: 3     NC_000015.10
• OMIM: 605025

Protein Summary

• Protein general information: O14498  
  • Name: Immunoglobulin superfamily containing leucine rich repeat protein
  • Length: 428  
  • Mass: 45997
  • Tissue specificity: Expressed in various tissues including retina, heart, skeletal muscle, prostate, ovary, small intestine, thyroid, adrenal cortex, testis, stomach and spinal cord. {ECO
• Sequence:

  MQELHLLWWALLLGLAQACPEPCDCGEKYGFQIADCAYRDLESVPPGFPANVTTLSLSANRLPGLPEGAFREVPL
  LQSLWLAHNEIRTVAAGALASLSHLKSLDLSHNLISDFAWSDLHNLSALQLLKMDSNELTFIPRDAFRSLRALRS
  LQLNHNRLHTLAEGTFTPLTALSHLQINENPFDCTCGIVWLKTWALTTAVSIPEQDNIACTSPHVLKGTPLSRLP
  PLPCSAPSVQLSYQPSQDGAELRPGFVLALHCDVDGQPAPQLHWHIQIPSGIVEITSPNVGTDGRALPGTPVASS
  QPRFQAFANGSLLIPDFGKLEEGTYSCLATNELGSAESSVDVALATPGEGGEDTLGRRFHGKAVEGKGCYTVDNE
  VQPSGPEDNVVIIYLSRAGNPEAAVAEGVPGQLPPGLLLLGQSLLLFFFLTSF

• Structural information:
  • Protein Domains: (19..5-)
    (/note="LRRNT-)
    (180..23-)
    (/note="LRRCT-)
    (232..34-)
    (/note="Ig-like"-)
  • Interpro: IPR000483  IPR007110  IPR036179  IPR013783  IPR013098   IPR003598  IPR001611  IPR003591  IPR032675  
  • Prosite: PS50835 PS51450
  • STRING: ENSP00000249842
• Other Databases: GeneCards:  ISLR  Malacards:  ISLR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq