Gene: CNIH2
Alternate names for this Gene: CNIH-2|Cnil
Gene Summary: The protein encoded by this gene is an auxiliary subunit of the ionotropic glutamate receptor of the AMPA subtype. AMPA receptors mediate fast synaptic neurotransmission in the central nervous system. This protein has been reported to interact with the Type I AMPA receptor regulatory protein isoform gamma-8 to control assembly of hippocampal AMPA receptor complexes, thereby modulating receptor gating and pharmacology. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 11
Location in Chromosome : 11q13.2
Description of this Gene: cornichon family AMPA receptor auxiliary protein 2
Type of Gene: protein-coding
rs4073582 in
CNIH2 gene and
Arthritis, Gouty
PMID 27899376 2017 GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.
PMID 25646370 2016 Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.
rs4073582 in
CNIH2 gene and
Gout
PMID 27899376 2017 GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.
PMID 25646370 2016 Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.
rs4073582 in
CNIH2 gene and
Uric acid measurement (procedure)
PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.