• Gene id: 84623

Gene Summary

• Gene Symbol: KIRREL3   Gene   UCSC   Ensembl
• Aliases: KIRRE, MRD4, NEPH2, PRO4502
• Gene name: kirre like nephrin family adhesion molecule 3
• Alternate names: kin of IRRE-like protein 3, kin of IRRE like 3, kin of irregular chiasm-like protein 3, nephrin-like 2, nephrin-like protein 2,
• Gene location: 11q24.2 (127003459: 126423357)     Exons: 19     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of po
• OMIM: 607761

Protein Summary

• Protein general information: Q8IZU9  
  • Name: Kin of IRRE like protein 3 (Kin of irregular chiasm like protein 3) (Nephrin like protein 2) [Cleaved into: Processed kin of IRRE like protein 3]
  • Length: 778  
  • Mass: 85255
  • Tissue specificity: Expressed in fetal and adult brain (PubMed
• Sequence:

  MKPFQLDLLFVCFFLFSQELGLQKRGCCLVLGYMAKDKFRRMNEGQVYSFSQQPQDQVVVSGQPVTLLCAIPEYD
  GFVLWIKDGLALGVGRDLSSYPQYLVVGNHLSGEHHLKILRAELQDDAVYECQAIQAAIRSRPARLTVLVPPDDP
  VILGGPVISLRAGDPLNLTCHADNAKPAASIIWLRKGEVINGATYSKTLLRDGKRESIVSTLFISPGDVENGQSI
  VCRATNKAIPGGKETSVTIDIQHPPLVNLSVEPQPVLEDNVVTFHCSAKANPAVTQYRWAKRGQIIKEASGEVYR
  TTVDYTYFSEPVSCEVTNALGSTNLSRTVDVYFGPRMTTEPQSLLVDLGSDAIFSCAWTGNPSLTIVWMKRGSGV
  VLSNEKTLTLKSVRQEDAGKYVCRAVVPRVGAGEREVTLTVNGPPIISSTQTQHALHGEKGQIKCFIRSTPPPDR
  IAWSWKENVLESGTSGRYTVETISTEEGVISTLTISNIVRADFQTIYNCTAWNSFGSDTEIIRLKEQGSEMKSGA
  GLEAESVPMAVIIGVAVGAGVAFLVLMATIVAFCCARSQRNLKGVVSAKNDIRVEIVHKEPASGREGEEHSTIKQ
  LMMDRGEFQQDSVLKQLEVLKEEEKEFQNLKDPTNGYYSVNTFKEHHSTPTISLSSCQPDLRPAGKQRVPTGMSF
  TNIYSTLSGQGRLYDYGQRFVLGMGSSSIELCEREFQRGSLSDSSSFLDTQCDSSVSSSGKQDGYVQFDKASKAS
  ASSSHHSQSSSQNSDPSRPLQRRMQTHV

• Structural information:
  • Protein Domains: (48..14-)
    1 (/note="Ig-like-C2-type)
    (147..24-)
    2 (/note="Ig-like-C2-type)
    (249..33-)
    3 (/note="Ig-like-C2-type)
    (335..41-)
    4 (/note="Ig-like-C2-type)
    (419..51-)
    5" (/note="Ig-like-C2-type)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR013098  IPR003599   IPR003598  
  • Prosite: PS50835
  • PDB: 2CRY
  • PDBsum: 2CRY
  • STRING: ENSP00000435466
• Other Databases: GeneCards:  KIRREL3  Malacards:  KIRREL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008021	synaptic vesicle	IDA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030424	axon	ISS	cellular component
GO:0021766	hippocampus development	ISS	biological process
GO:0007416	synapse assembly	ISS	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	ISS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0021766	hippocampus development	IEA	biological process
GO:0021740	principal sensory nucleus of trigeminal nerve development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0001764	neuron migration	IEA	biological process
GO:0072102	glomerulus morphogenesis	IEA	biological process
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0043198	dendritic shaft	IEA	cellular component
GO:0030097	hemopoiesis	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007416	synapse assembly	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0002121	inter-male aggressive behavior	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005576	extracellular region	ISS	cellular component
GO:0030097	hemopoiesis	ISS	biological process
GO:0016021	integral component of membrane	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq