LRIG2 gene

leucine rich repeats and immunoglobulin like domains 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Urofacial syndrome 2

From UniProt:

Urofacial syndrome 2 (UFS2): A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. [MIM:615112]

Cytogenetic Location: 1p13.1, which is the short (p) arm of chromosome 1 at position 13.1

Molecular Location: base pairs 113,073,170 to 113,132,260 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p13.1, which is the short (p) arm of chromosome 1 at position 13.1
  • LIG-2
  • LIG2
  • UFS2