KIRREL3 (kirre like nephrin family adhesion molecule 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84623
Gene name Kirre like nephrin family adhesion molecule 3
Gene symbol KIRREL3
Synonyms (NCBI Gene)
KIRREMRD4NEPH2PRO4502
Chromosome 11
Chromosome location 11q24.2
Summary 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
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs1057519593 C>A,T Likely-pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs1064795581 C>T Likely-pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
34
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (34)
miRTarBase ID miRNA Experiments Reference
MIRT440363 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440363 hsa-miR-218-5p HITS-CLIP 23212916
MIRT1095296 hsa-miR-1251 CLIP-seq
MIRT1095297 hsa-miR-1273f CLIP-seq
MIRT1095298 hsa-miR-3613-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (31)
GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IEA
GO:0002121 Process Inter-male aggressive behavior IEA
GO:0005515 Function Protein binding IPI 12424224, 25902260, 34799561
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607761 23204 ENSG00000149571
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZU9
Protein 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]
Protein function Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures c
PDB 2CRY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 48 → 145 Immunoglobulin I-set domain Domain
PF13895 Ig_2 149 → 246 Immunoglobulin domain Domain
PF07679 I-set 335 → 416 Immunoglobulin I-set domain Domain
PF13927 Ig_3 419 → 503 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal and adult brain (PubMed:19012874). Also expressed in kidney, specifically in podocytes of kidney glomeruli (PubMed:12424224). Also expressed in skeletal muscle (PubMed:25488023). {ECO:0000269|PubMed:12424224, ECO:000
Sequence 
MKPFQLDLLFVCFFLFSQELGLQKRGCCLVLGYMAKDKFRRMNEGQVYSFSQQPQDQVVV
SGQPVTLLCAIPEYDGFVLWIKDGLALGVGRDLSSYPQYLVVGNHLSGEHHLKILRAELQ
DDAVYECQAIQAAIRSRPARLTVLVPPDDPVILGGPVISLRAGDPLNLTCHADNAKPAAS
IIWLRKGEVINGATYSKTLLRDGKRESIVSTLFISPGDVENGQSIVCRATNKAIPGGKET
SVTIDIQHPPLVNLSVEPQPVLEDNVVTFHCSAKANPAVTQYRWAKRGQIIKEASGEVYR
TTVDYTYFSEPVSCEVTNALGSTNLSRTVDVYFGPRMTTEPQSLLVDLGSDAIFSCAWTG
NPSLTIVWMKRGSGVVLSNEKTLTLKSVRQEDAGKYVCRAVVPRVGAGEREVTLTVNGPP
IISSTQTQHALHGEKGQIKCFIRSTPPPDRIAWSWKENVLESGTSGRYTVETISTEEGVI
STLTISNIVRADFQTIYNCTAWNSFGSDTEIIRLKEQGSEMKSGAGLEAESVPMAVIIGV
AVGAGVAFLVLMATIVAFCCARSQRNLKGVVSAKNDIRVEIVHKEPASGREGEEHSTIKQ
LMMDRGEFQQDSVLKQLEVLKEEEKEFQNLKDPTNGYYSVNTFKEHHSTPTISLSSCQPD
LRPAGKQRVPTGMSFTNIYSTLSGQGRLYDYGQRFVLGMGSSSIELCEREFQRGSLSDSS
SFLDTQCDSSVSSSGKQDGYVQFDKASKASASSSHHSQSSSQNSDPSRPLQRRMQTHV
Sequence length 778
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Nephrin family interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
33
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability, autosomal dominant 4 Likely pathogenic rs1057519593 RCV000417096
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Absent speech Uncertain significance rs1555100391 RCV000626770
Autism spectrum disorder Uncertain significance; association rs370309110, rs773312950 RCV003225263
RCV001291392
Developmental disorder Likely benign rs368469108 RCV001843724
Difficulty walking Uncertain significance rs1555100391 RCV000626770
Show/Hide Text Mining Associations (16)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Apraxias Associate 37605258
Autism Spectrum Disorder Associate 29271092, 37605258
Autistic Disorder Associate 22521361, 23575222
Carcinoma Hepatocellular Associate 30945699
Central Nervous System Vascular Malformations Associate 19012874
Cerebellar Diseases Associate 37605258
Cerebellar Hypoplasia Associate 37605258
Chromosome Aberrations Associate 22521361
Colorectal Neoplasms Associate 38092774
Congenital Abnormalities Associate 37605258