LRIG2 Chromosome 1
Leucine rich repeats and immunoglobulin like domains 2
Upload your DNA to see your personal genotypes for variants in LRIG2.
What This Gene Does
This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
I-set domain containing
Locus Type
gene with protein product
Location
1p13.2
Ensembl
ENSG00000198799
Associated Conditions (3)
LRIG2-related disorder
Urofacial syndrome 2
Global developmental delay
Key Variants
RS201038287
Conflicting classifications of pathogenicity
LRIG2-related disorder, LRIG2-related disorder
Health Risk
RS201326654
Conflicting classifications of pathogenicity
Health Risk
RS61751735
Conflicting classifications of pathogenicity
Health Risk
RS1364461144
Likely pathogenic
Health Risk
RS1399525051
Likely pathogenic
Health Risk
RS1557914199
Likely pathogenic
Health Risk
RS1570764426
Likely pathogenic
Urofacial syndrome 2, Urofacial syndrome 2
Health Risk
RS1189543766
Pathogenic
Health Risk
RS1199575794
Pathogenic
Global developmental delay, Global developmental delay
Health Risk
RS587776945
Pathogenic
Urofacial syndrome 2, Urofacial syndrome 2
Health Risk
RS587776946
Pathogenic
Urofacial syndrome 2, Urofacial syndrome 2
Health Risk
RS587776947
Pathogenic
Urofacial syndrome 2, Urofacial syndrome 2
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201038287 | Health Risk | Conflicting classifications of pathogenicity | LRIG2-related disorder, LRIG2-related disorder |
| RS201326654 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61751735 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1364461144 | Health Risk | Likely pathogenic | — |
| RS1399525051 | Health Risk | Likely pathogenic | — |
| RS1557914199 | Health Risk | Likely pathogenic | — |
| RS1570764426 | Health Risk | Likely pathogenic | Urofacial syndrome 2, Urofacial syndrome 2 |
| RS1189543766 | Health Risk | Pathogenic | — |
| RS1199575794 | Health Risk | Pathogenic | Global developmental delay, Global developmental delay |
| RS587776945 | Health Risk | Pathogenic | Urofacial syndrome 2, Urofacial syndrome 2 |
| RS587776946 | Health Risk | Pathogenic | Urofacial syndrome 2, Urofacial syndrome 2 |
| RS587776947 | Health Risk | Pathogenic | Urofacial syndrome 2, Urofacial syndrome 2 |