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

    Gene ID: 254263, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See CNIH2 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66278175..66284206)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66271838..66277869)
    RS_2024_09 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 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. CPSF3 regulates alternative polyadenylation of CNIH2 to promote esophageal squamous cell carcinoma progression. Zhang Y, et al. Cancer Lett, 2024 Jul 1. PMID 38718887
    5. 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

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CPSF3 regulates alternative polyadenylation of CNIH2 to promote esophageal squamous cell carcinoma progression.
      Title: CPSF3 regulates alternative polyadenylation of CNIH2 to promote esophageal squamous cell carcinoma progression.
    2. 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 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of AMPA receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in synaptic transmission, glutamatergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    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_2024_08

    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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