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

Gene ID: 254263, updated on 3-Oct-2020

Summary

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
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

Genomic context

See CNIH2 in Genome Data Viewer
Location:
11q13.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (66278175..66284206)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66045672..66051685)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene kinesin light chain 2 Neighboring gene uncharacterized LOC105369351 Neighboring gene RAB1B, member RAS oncogene family Neighboring gene uncharacterized LOC107984340 Neighboring gene Yip1 interacting factor homolog A, membrane trafficking protein Neighboring gene Sharpr-MPRA regulatory region 5915

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC50896

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
COPII vesicle coating TAS
Traceable Author Statement
more info
 
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
localization within membrane IEA
Inferred from Electronic Annotation
more info
 
negative regulation of anterograde synaptic vesicle transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of receptor localization to synapse IEA
Inferred from Electronic Annotation
more info
 
regulation of AMPA receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of AMPA receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of NMDA receptor activity IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IEA
Inferred from Electronic Annotation
more info
 
regulation of postsynaptic neurotransmitter receptor activity IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
AMPA glutamate receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
ER to Golgi transport vesicle membrane TAS
Traceable Author Statement
more info
 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic shaft ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein cornichon homolog 2
Names
cornichon homolog 2

NCBI Reference Sequences (RefSeq)

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_182553.3NP_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
    Related
    ENSP00000310003.6, ENST00000311445.7
    Conserved Domains (1) summary
    pfam03311
    Location:8151
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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