CNIH3 Gene - Cornichon Family AMPA Receptor Auxiliary Protein 3
Comprehensive gene information for CNIH3, encoding a cornichon family member involved in AMPA receptor trafficking and synaptic plasticity.
Gene Information Card
| Symbol | CNIH3 |
|---|---|
| Full Name | Cornichon family AMPA receptor auxiliary protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.2 |
| NCBI Gene ID | 149111 ncbi.nlm.nih.gov/gene/149111 |
| Ensembl ID | ENSG00000143157 |
| UniProt ID | Q8N2W9 |
| OMIM ID | 611759 |
| HGNC ID | 28489 |
| Aliases | CNIH-3, CNIH3, FLJ32658 |
Description
CNIH3 (Cornichon family AMPA receptor auxiliary protein 3) is a protein-coding gene that encodes a member of the cornichon family. The encoded protein functions as an auxiliary subunit of AMPA-type glutamate receptors, modulating receptor trafficking, gating, and synaptic plasticity. CNIH3 is primarily expressed in the brain and is involved in excitatory neurotransmission.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | CNIH3 variants may alter AMPA receptor function, affecting glutamatergic signaling and synaptic plasticity, contributing to schizophrenia risk. | GWAS studies (PMID: 25056061, 26198764) have identified CNIH3 as a susceptibility locus for schizophrenia. |
| Bipolar disorder | Similar mechanism as schizophrenia: modulation of AMPA receptor trafficking and glutamatergic neurotransmission. | Genome-wide association studies (PMID: 21926972) implicate CNIH3 in bipolar disorder. |
| Intellectual disability | Rare CNIH3 mutations may disrupt AMPA receptor function, impairing synaptic plasticity and cognitive development. | Case reports and exome sequencing studies (PMID: 25363768) suggest association. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Adrenal gland | 1.8 | Low |
| Thyroid | 1.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.7 | Neuroblastoma cell line; high expression |
| HEK293 | 2.1 | Embryonic kidney; low expression |
| HeLa | 1.3 | Cervical carcinoma; low expression |
| HepG2 | 0.4 | Hepatocellular carcinoma; not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1049636 | SNV (missense) | 0.15 (global) | p.Arg37His; may alter protein function; associated with schizophrenia risk. |
| rs10791097 | SNV (intronic) | 0.22 (global) | Non-coding; regulatory variant linked to schizophrenia. |
| rs12407621 | SNV (intronic) | 0.18 (global) | Non-coding; associated with bipolar disorder. |
Mutation functional classification
Loss of Function (LOF)
Rare nonsense or frameshift mutations predicted to cause loss of CNIH3 protein function, potentially impairing AMPA receptor trafficking and synaptic transmission.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CNIH3.
Dominant Negative (DN)
No evidence of dominant-negative effects for CNIH3 mutations.
View complete mutation data：
Gene Ontology (GO)
| • glutamate receptor binding (GO:0035254) | • neuronal cell body (GO:0043025) |
| • excitatory synapse (GO:0060076) | • scaffold protein binding (GO:0097110) |
| • glutamatergic synapse (GO:0098978) |
Pathways
• UniProt: AMPA receptor trafficking and regulation
• Reactome: R-HSA-399721 - Glutamate binding
• activation of AMPA receptors and synaptic plasticity
• KEGG: hsa04724 - Glutamatergic synapse
Protein Summary
CNIH3 is a 160-amino acid protein with three transmembrane domains, localized to the endoplasmic reticulum and plasma membrane. It forms complexes with AMPA receptors (GluA1-4) and modulates their surface expression, channel conductance, and desensitization. CNIH3 is essential for proper glutamatergic synaptic transmission and plasticity in the central nervous system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNIH3 Knockout HEK293 Cell Line | EDJ-KQ10963 | Human | 149111 | Details Get a Quote |
| CNIH3 Knockout HCT 116 Cell Line | EDJ-KQ38774 | Human | 149111 | Details Get a Quote |
| CNIH3 Knockout HeLa Cell Line | EDJ-KQ58623 | Human | 149111 | Details Get a Quote |
| CNIH3 Knockout A-549 Cell Line | EDJ-KQ67105 | Human | 149111 | Details Get a Quote |
