• Gene id: 57497

Gene Summary

• Gene Symbol: LRFN2   Gene   UCSC   Ensembl
• Aliases: FIGLER2, KIAA1246, SALM1
• Gene name: leucine rich repeat and fibronectin type III domain containing 2
• Alternate names: leucine-rich repeat and fibronectin type-III domain-containing protein 2, fibronectin type III, immunoglobulin and leucine rich repeat domains 2, synaptic adhesion-like molecule 1,
• Gene location: 6p21.2-p21.1 (496485: 505342)     Exons: 5     NC_000019.10
• OMIM: 612808

Protein Summary

• Protein general information: Q9ULH4  
  • Name: Leucine rich repeat and fibronectin type III domain containing protein 2 (Synaptic adhesion like molecule 1)
  • Length: 789  
  • Mass: 84731
• Sequence:

  METLLGGLLAFGMAFAVVDACPKYCVCQNLSESLGTLCPSKGLLFVPPDIDRRTVELRLGGNFIIHISRQDFANM
  TGLVDLTLSRNTISHIQPFSFLDLESLRSLHLDSNRLPSLGEDTLRGLVNLQHLIVNNNQLGGIADEAFEDFLLT
  LEDLDLSYNNLHGLPWDSVRRMVNLHQLSLDHNLLDHIAEGTFADLQKLARLDLTSNRLQKLPPDPIFARSQASA
  LTATPFAPPLSFSFGGNPLHCNCELLWLRRLERDDDLETCGSPGGLKGRYFWHVREEEFVCEPPLITQHTHKLLV
  LEGQAATLKCKAIGDPSPLIHWVAPDDRLVGNSSRTAVYDNGTLDIFITTSQDSGAFTCIAANAAGEATAMVEVS
  IVQLPHLSNSTSRTAPPKSRLSDITGSSKTSRGGGGSGGGEPPKSPPERAVLVSEVTTTSALVKWSVSKSAPRVK
  MYQLQYNCSDDEVLIYRMIPASNKAFVVNNLVSGTGYDLCVLAMWDDTATTLTATNIVGCAQFFTKADYPQCQSM
  HSQILGGTMILVIGGIIVATLLVFIVILMVRYKVCNHEAPSKMAAAVSNVYSQTNGAQPPPPSSAPAGAPPQGPP
  KVVVRNELLDFTASLARASDSSSSSSLGSGEAAGLGRAPWRIPPSAPRPKPSLDRLMGAFASLDLKSQRKEELLD
  SRTPAGRGAGTSARGHHSDREPLLGPPAARARSLLPLPLEGKAKRSHSFDMGDFAAAAAGGVVPGGYSPPRKVSN
  IWTKRSLSVNGMLLPFEESDLVGARGTFGSSEWVMESTV

• Structural information:
  • Protein Domains: (21..5-)
    (/note="LRRNT-)
    (242..28-)
    (/note="LRRCT-)
    (289..37-)
    (/note="Ig-like-)
    (421..51-)
    (/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: ENSP00000345985
• Other Databases: GeneCards:  LRFN2  Malacards:  LRFN2

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:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of 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:0005886	plasma membrane	TAS	cellular component
GO:0099175	regulation of postsynapse organization	IEA	biological process
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component

Diseases

Associated diseases	References
Azoospermia, Oligozoospermia	MIK: 19478329
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)
19478329	Azoospermia, Oligozoospermia	rs4541736	Caucasi an	48 cases	Male infertility	GWAS