• Gene id: 57622

Gene Summary

• Gene Symbol: LRFN1   Gene   UCSC   Ensembl
• Aliases: SALM2
• Gene name: leucine rich repeat and fibronectin type III domain containing 1
• Alternate names: leucine-rich repeat and fibronectin type III domain-containing protein 1, CTC-246B18.8, synaptic adhesion-like molecule 2,
• Gene location: 19q13.2 (39320862: 39306565)     Exons: 6     NC_000019.10
• OMIM: 606265

Protein Summary

• Protein general information: Q9P244  
  • Name: Leucine rich repeat and fibronectin type III domain containing protein 1 (Synaptic adhesion like molecule 2)
  • Length: 771  
  • Mass: 82318
• Sequence:

  MAPGPFSSALLSPPPAALPFLLLLWAGASRGQPCPGRCICQNVAPTLTMLCAKTGLLFVPPAIDRRVVELRLTDN
  FIAAVRRRDFANMTSLVHLTLSRNTIGQVAAGAFADLRALRALHLDSNRLAEVRGDQLRGLGNLRHLILGNNQIR
  RVESAAFDAFLSTVEDLDLSYNNLEALPWEAVGQMVNLNTLTLDHNLIDHIAEGTFVQLHKLVRLDMTSNRLHKL
  PPDGLFLRSQGTGPKPPTPLTVSFGGNPLHCNCELLWLRRLTREDDLETCATPEHLTDRYFWSIPEEEFLCEPPL
  ITRQAGGRALVVEGQAVSLRCRAVGDPEPVVHWVAPDGRLLGNSSRTRVRGDGTLDVTITTLRDSGTFTCIASNA
  AGEATAPVEVCVVPLPLMAPPPAAPPPLTEPGSSDIATPGRPGANDSAAERRLVAAELTSNSVLIRWPAQRPVPG
  IRMYQVQYNSSVDDSLVYRMIPSTSQTFLVNDLAAGRAYDLCVLAVYDDGATALPATRVVGCVQFTTAGDPAPCR
  PLRAHFLGGTMIIAIGGVIVASVLVFIVLLMIRYKVYGDGDSRRVKGSRSLPRVSHVCSQTNGAGTGAAQAPALP
  AQDHYEALREVESQAAPAVAVEAKAMEAETASAEPEVVLGRSLGGSATSLCLLPSEETSGEESRAAVGPRRSRSG
  ALEPPTSAPPTLALVPGGAAARPRPQQRYSFDGDYGALFQSHSYPRRARRTKRHRSTPHLDGAGGGAAGEDGDLG
  LGSARACLAFTSTEWMLESTV

• Structural information:
  • Protein Domains: (32..6-)
    (/note="LRRNT-)
    (252..29-)
    (/note="LRRCT-)
    (299..38-)
    (/note="Ig-like-)
    (424..52-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR000483  IPR003961  IPR036116  IPR007110  IPR036179   IPR013783  IPR013098  IPR003599  IPR003598  IPR001611  IPR003591  IPR032675  
  • Prosite: PS50853 PS50835 PS51450
  • CDD: cd00063
  • STRING: ENSP00000248668
• Other Databases: GeneCards:  LRFN1  Malacards:  LRFN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009986	cell surface	IBA	cellular component
GO:0099061	integral component of postsynaptic density membrane	IBA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0099151	regulation of postsynaptic density assembly	IEA	biological process
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	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