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CNIH2 cornichon family AMPA receptor auxiliary protein 2 [ Homo sapiens (human) ]

Gene ID: 254263, updated on 11-Apr-2024

Summary

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Official Symbol
CNIH2provided by HGNC
Official Full Name
cornichon family AMPA receptor auxiliary protein 2provided by HGNC
Primary source
HGNC:HGNC:28744
See related
Ensembl:ENSG00000174871 MIM:611288; AllianceGenome:HGNC:28744
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Cnil; CNIH-2
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. [provided by RefSeq, Aug 2012]
Expression
Biased expression in brain (RPKM 22.4), adrenal (RPKM 2.7) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
11q13.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66278175..66284206)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66271838..66277869)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66045646..66051677)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene kinesin light chain 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5039 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5041 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66036329-66037210 Neighboring gene KLC2 antisense RNA 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:66039357-66040556 Neighboring gene uncharacterized LOC107984340 Neighboring gene RAB1B, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66049917-66050420 Neighboring gene Sharpr-MPRA regulatory region 5915 Neighboring gene Yip1 interacting factor homolog A, membrane trafficking protein Neighboring gene transmembrane protein 151A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cornichons modify channel properties of recombinant and glial AMPA receptors. Coombs ID, et al. J Neurosci, 2012 Jul 18. PMID 22815494, Free PMC Article
  2. Cornichon2 dictates the time course of excitatory transmission at individual hippocampal synapses. Boudkkazi S, et al. Neuron, 2014 May 21. PMID 24853943
  3. AMPA receptor modulation by cornichon-2 dictated by transmembrane AMPA receptor regulatory protein isoform. Gill MB, et al. Eur J Neurosci, 2012 Jan. PMID 22211840
  4. Transmembrane AMPA receptor regulatory proteins and cornichon-2 allosterically regulate AMPA receptor antagonists and potentiators. Schober DA, et al. J Biol Chem, 2011 Apr 15. PMID 21343286, Free PMC Article
  5. Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia. Drummond JB, et al. Neuroreport, 2012 Dec 5. PMID 23103966

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Significant upregulation of CNIH-2 mRNA expression was found in schizophrenia.
    Title: Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC50896

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in regulation of AMPA receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of AMPA receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in ER to Golgi transport vesicle membrane TAS
Traceable Author Statement
more info
  
is_active_in dendrite IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in dendritic shaft ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in postsynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
protein cornichon homolog 2
Names
cornichon homolog 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_182553.3 → NP_872359.1  protein cornichon homolog 2

    See identical proteins and their annotated locations for NP_872359.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein.
    Source sequence(s)
    AP001107, BC047953, BM547951
    Consensus CDS
    CCDS8131.1
    UniProtKB/Swiss-Prot
    Q6PI25
    UniProtKB/TrEMBL
    E9PS15
    Related
    ENSP00000310003.6, ENST00000311445.7
    Conserved Domains (1) summary
    pfam03311
    Location:7 → 151
    Cornichon; Cornichon protein

RNA

  1. NR_073078.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI928591, AP001107, AY726585, BC047953, BM547951
    Related
    ENST00000528063.5

  2. NR_073079.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5'-most exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP001107, BC047953, BM547951, DR760677

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    66278175..66284206
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426708.1 → XP_047282664.1  protein cornichon homolog 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    66271838..66277869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368301.1 → XP_054224276.1  protein cornichon homolog 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PI25.1 GenPept UniProtKB/Swiss-Prot:Q6PI25

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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