• Gene id: 57611

Gene Summary

• Gene Symbol: ISLR2   Gene   UCSC   Ensembl
• Aliases: LINX
• Gene name: immunoglobulin superfamily containing leucine rich repeat 2
• Alternate names: immunoglobulin superfamily containing leucine-rich repeat protein 2, leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein,
• Gene location: 15q24.1 (74100313: 74141825)     Exons: 14     NC_000015.10
• OMIM: 614179

Protein Summary

• Protein general information: Q6UXK2  
  • Name: Immunoglobulin superfamily containing leucine rich repeat protein 2 (Leucine rich repeat domain and immunoglobulin domain containing axon extension protein)
  • Length: 745  
  • Mass: 78990
• Sequence:

  MFPLRALWLVWALLGVAGSCPEPCACVDKYAHQFADCAYKELREVPEGLPANVTTLSLSANKITVLRRGAFADVT
  QVTSLWLAHNEVRTVEPGALAVLSQLKNLDLSHNFISSFPWSDLRNLSALQLLKMNHNRLGSLPRDALGALPDLR
  SLRINNNRLRTLAPGTFDALSALSHLQLYHNPFHCGCGLVWLQAWAASTRVSLPEPDSIACASPPALQGVPVYRL
  PALPCAPPSVHLSAEPPLEAPGTPLRAGLAFVLHCIADGHPTPRLQWQLQIPGGTVVLEPPVLSGEDDGVGAEEG
  EGEGDGDLLTQTQAQTPTPAPAWPAPPATPRFLALANGSLLVPLLSAKEAGVYTCRAHNELGANSTSIRVAVAAT
  GPPKHAPGAGGEPDGQAPTSERKSTAKGRGNSVLPSKPEGKIKGQGLAKVSILGETETEPEEDTSEGEEAEDQIL
  ADPAEEQRCGNGDPSRYVSNHAFNQSAELKPHVFELGVIALDVAEREARVQLTPLAARWGPGPGGAGGAPRPGRR
  PLRLLYLCPAGGGAAVQWSRVEEGVNAYWFRGLRPGTNYSVCLALAGEACHVQVVFSTKKELPSLLVIVAVSVFL
  LVLATVPLLGAACCHLLAKHPGKPYRLILRPQAPDPMEKRIAADFDPRASYLESEKSYPAGGEAGGEEPEDVQGE
  GLDEDAEQGDPSGDLQREESLAACSLVESQSKANQEEFEAGSEYSDRLPLGAEAVNIAQEINGNYRQTAG

• Structural information:
  • Protein Domains: (19..5-)
    (/note="LRRNT-)
    (181..23-)
    (/note="LRRCT-)
    (233..37-)
    (/note="Ig-like"-)
  • Interpro: IPR000483  IPR007110  IPR036179  IPR013783  IPR001611   IPR003591  IPR032675  
  • Prosite: PS50835 PS51450
  • STRING: ENSP00000355402
• Other Databases: GeneCards:  ISLR2  Malacards:  ISLR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009986	cell surface	IBA	cellular component
GO:0045773	positive regulation of axon extension	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0009986	cell surface	ISS	cellular component
GO:0045773	positive regulation of axon extension	ISS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq