• Gene id: 84063

Gene Summary

• Gene Symbol: KIRREL2   Gene   UCSC   Ensembl
• Aliases: FILTRIN, NEPH3, NLG1
• Gene name: kirre like nephrin family adhesion molecule 2
• Alternate names: kin of IRRE-like protein 2, kin of IRRE like 2, kin of irregular chiasm-like protein 2, nephrin-like gene 1, nephrin-like protein 3,
• Gene location: 19q13.12 (35851634: 35867145)     Exons: 16     NC_000019.10
• Gene summary(Entrez): This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against

Protein Summary

• Protein general information: Q6UWL6  
  • Name: Kin of IRRE like protein 2 (Kin of irregular chiasm like protein 2) (Nephrin like protein 3)
  • Length: 708  
  • Mass: 75092
  • Tissue specificity: Highly expressed in beta-cells of the pancreatic islets. {ECO
• Sequence:

  MLRMRVPALLVLLFCFRGRAGPSPHFLQQPEDLVVLLGEEARLPCALGAYWGLVQWTKSGLALGGQRDLPGWSRY
  WISGNAANGQHDLHIRPVELEDEASYECQATQAGLRSRPAQLHVLVPPEAPQVLGGPSVSLVAGVPANLTCRSRG
  DARPTPELLWFRDGVLLDGATFHQTLLKEGTPGSVESTLTLTPFSHDDGATFVCRARSQALPTGRDTAITLSLQY
  PPEVTLSASPHTVQEGEKVIFLCQATAQPPVTGYRWAKGGSPVLGARGPRLEVVADASFLTEPVSCEVSNAVGSA
  NRSTALDVLFGPILQAKPEPVSVDVGEDASFSCAWRGNPLPRVTWTRRGGAQVLGSGATLRLPSVGPEDAGDYVC
  RAEAGLSGLRGGAAEARLTVNAPPVVTALHSAPAFLRGPARLQCLVFASPAPDAVVWSWDEGFLEAGSQGRFLVE
  TFPAPESRGGLGPGLISVLHISGTQESDFSRSFNCSARNRLGEGGAQASLGRRDLLPTVRIVAGVAAATTTLLMV
  ITGVALCCWRHSKASASFSEQKNLMRIPGSSDGSSSRGPEEEETGSREDRGPIVHTDHSDLVLEEKGTLETKDPT
  NGYYKVRGVSVSLSLGEAPGGGLFLPPPSPLGPPGTPTFYDFNPHLGMVPPCRLYRARAGYLTTPHPRAFTSYIK
  PTSFGPPDLAPGTPPFPYAAFPTPSHPRLQTHV

• Structural information:
  • Protein Domains: (24..11-)
    1 (/note="Ig-like-C2-type)
    (123..22-)
    2 (/note="Ig-like-C2-type)
    (227..30-)
    3 (/note="Ig-like-C2-type)
    (312..39-)
    4 (/note="Ig-like-C2-type)
    (398..50-)
    5" (/note="Ig-like-C2-type)
  • Interpro: IPR013162  IPR007110  IPR036179  IPR013783  IPR013098   IPR003599  IPR003598  
  • Prosite: PS50835
  • STRING: ENSP00000353331
• Other Databases: GeneCards:  KIRREL2  Malacards:  KIRREL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005911	cell-cell junction	ISS	cellular component
GO:0042802	identical protein binding	ISS	molecular function
GO:0005886	plasma membrane	ISS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098609	cell-cell adhesion	IEA	biological process
GO:0036057	slit diaphragm	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0007155	cell adhesion	NAS	biological process

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray