KIRREL3 Chromosome 11
Kirre like nephrin family adhesion molecule 3
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What This Gene Does
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 podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
"C2-set domain containing|I-set domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q24.2
Ensembl
ENSG00000149571
Associated Conditions (3)
Autism spectrum disorder
Intellectual disability
autosomal dominant 4
Key Variants
RS773312950
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS138978113
Conflicting classifications of pathogenicity
Health Risk
RS35152573
Conflicting classifications of pathogenicity
Health Risk
RS1057519593
Likely pathogenic
Intellectual disability, autosomal dominant 4, Intellectual disability
Health Risk
RS1064795581
Likely pathogenic
Health Risk
RS2539919317
Likely pathogenic
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS773312950 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS138978113 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS35152573 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057519593 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 4, Intellectual disability |
| RS1064795581 | Health Risk | Likely pathogenic | — |
| RS2539919317 | Health Risk | Likely pathogenic | — |