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Aliases for CNIH2 Gene

Aliases for CNIH2 Gene

  • Cornichon Family AMPA Receptor Auxiliary Protein 2 2 3 4 5
  • CNIH-2 3 4
  • Cornichon Homolog 2 (Drosophila) 2
  • Protein Cornichon Homolog 2 3
  • Cornichon-Like Protein 4
  • Cornichon Homolog 2 3
  • Cnil 3
  • CNIL 4

External Ids for CNIH2 Gene

Previous GeneCards Identifiers for CNIH2 Gene

  • GC11P065803
  • GC11P066045
  • GC11P062375

Summaries for CNIH2 Gene

Entrez Gene Summary for CNIH2 Gene

  • 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]

GeneCards Summary for CNIH2 Gene

CNIH2 (Cornichon Family AMPA Receptor Auxiliary Protein 2) is a Protein Coding gene. Diseases associated with CNIH2 include Schizophrenia. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. An important paralog of this gene is CNIH3.

UniProtKB/Swiss-Prot for CNIH2 Gene

  • Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization. Blocks CACNG8-mediated resensitization of AMPA receptors.

Additional gene information for CNIH2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNIH2 Gene

Genomics for CNIH2 Gene

GeneHancer (GH) Regulatory Elements for CNIH2 Gene

Promoters and enhancers for CNIH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J066277 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 -0.2 -170 1.2 RB1 SIN3A ZNF2 YY1 GLIS2 EGR1 RUNX3 ZEB2 GLIS1 IKZF1 CNIH2 ENSG00000254452 PIR45363 PIR47276 GC11P066284 GC11P066282 ENSG00000245156 RAB1B ENSG00000255320 LOC105369352
GH11J066278 Enhancer 0.8 ENCODE dbSUPER 650.7 +0.8 805 0.2 FOXA2 RFX1 ZNF740 ZEB2 BMI1 RFX5 POLR2A EGR1 RFX3 PATZ1 CNIH2 ENSG00000254452 ENSG00000245156 YIF1A
GH11J066279 Enhancer 0.7 ENCODE dbSUPER 650.7 +1.0 1000 0 RFX1 RFX3 ZNF740 PATZ1 PRDM10 ZEB2 RFX5 CNIH2 ENSG00000245156 ENSG00000254452 YIF1A
GH11J066743 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 1.9 +466.5 466518 2.9 ARID4B SIN3A ZBTB7B YY1 POLR2B ZNF207 ZNF143 FOS SP3 SP5 SPTBN2 GC11M066742 C11orf80 EIF1AD ENSG00000258297 RBM14 KDM2A RBM4 MRPL11 SART1
GH11J066078 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 2.1 -196.4 -196380 7.5 HDGF PKNOX1 FOXA2 SIN3A YBX1 FEZF1 ZNF121 ZNF143 FOS RUNX3 ENSG00000255320 SF3B2 SIPA1 PACS1 CST6 EIF1AD BANF1 SART1 MAP3K11 AP5B1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNIH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CNIH2 gene promoter:
  • MAZR
  • AREB6
  • LCR-F1
  • c-Ets-1
  • RORalpha2
  • Ik-1
  • Tal-1beta
  • E47
  • Pax-4a

Genomic Locations for CNIH2 Gene

Genomic Locations for CNIH2 Gene
chr11:66,278,190-66,285,301
(GRCh38/hg38)
Size:
7,112 bases
Orientation:
Plus strand
chr11:66,045,661-66,052,772
(GRCh37/hg19)
Size:
7,112 bases
Orientation:
Plus strand

Genomic View for CNIH2 Gene

Genes around CNIH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNIH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNIH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNIH2 Gene

Proteins for CNIH2 Gene

  • Protein details for CNIH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PI25-CNIH2_HUMAN
    Recommended name:
    Protein cornichon homolog 2
    Protein Accession:
    Q6PI25

    Protein attributes for CNIH2 Gene

    Size:
    160 amino acids
    Molecular mass:
    18931 Da
    Quaternary structure:
    • Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8 (By similarity). Interacts with CACGN8 (By similarity). Interacts with GRIA1.

neXtProt entry for CNIH2 Gene

Post-translational modifications for CNIH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CNIH2 Gene

No data available for DME Specific Peptides for CNIH2 Gene

Domains & Families for CNIH2 Gene

Gene Families for CNIH2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CNIH2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNIH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PI25

UniProtKB/Swiss-Prot:

CNIH2_HUMAN :
  • Belongs to the cornichon family.
Family:
  • Belongs to the cornichon family.
genes like me logo Genes that share domains with CNIH2: view

Function for CNIH2 Gene

Molecular function for CNIH2 Gene

UniProtKB/Swiss-Prot Function:
Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by regulating their rates of activation, deactivation and desensitization. Blocks CACNG8-mediated resensitization of AMPA receptors.

Phenotypes From GWAS Catalog for CNIH2 Gene

Gene Ontology (GO) - Molecular Function for CNIH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20805473
genes like me logo Genes that share ontologies with CNIH2: view
genes like me logo Genes that share phenotypes with CNIH2: view

Animal Model Products

CRISPR Products

miRNA for CNIH2 Gene

miRTarBase miRNAs that target CNIH2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNIH2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CNIH2 Gene

Localization for CNIH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNIH2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell projection, dendrite. Cell projection, dendritic spine. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Note=Also localizes to the cell membrane of extrasynaptic sites (dendritic shafts, spines of pyramidal cells). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNIH2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
extracellular 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for CNIH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IEA --
GO:0012507 ER to Golgi transport vesicle membrane TAS --
genes like me logo Genes that share ontologies with CNIH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNIH2 Gene

Pathways & Interactions for CNIH2 Gene

genes like me logo Genes that share pathways with CNIH2: view

Gene Ontology (GO) - Biological Process for CNIH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0016192 vesicle-mediated transport IEA --
GO:0035249 synaptic transmission, glutamatergic IEA --
GO:0042391 regulation of membrane potential IEA --
GO:0048208 COPII vesicle coating TAS --
genes like me logo Genes that share ontologies with CNIH2: view

No data available for SIGNOR curated interactions for CNIH2 Gene

Drugs & Compounds for CNIH2 Gene

No Compound Related Data Available

Transcripts for CNIH2 Gene

mRNA/cDNA for CNIH2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(60) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CNIH2 Gene

Cornichon homolog 2 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNIH2

Alternative Splicing Database (ASD) splice patterns (SP) for CNIH2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e
SP1: - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: - -
SP6:

Relevant External Links for CNIH2 Gene

GeneLoc Exon Structure for
CNIH2
ECgene alternative splicing isoforms for
CNIH2

Expression for CNIH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CNIH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNIH2 Gene

This gene is overexpressed in Brain - Hippocampus (x11.0), Brain - Amygdala (x5.4), Brain - Nucleus accumbens (basal ganglia) (x4.7), Brain - Anterior cingulate cortex (BA24) (x4.5), Brain - Putamen (basal ganglia) (x4.4), and Brain - Caudate (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for CNIH2 Gene

This gene is overexpressed in Fetal Brain (59.7) and Frontal cortex (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CNIH2 Gene



Protein tissue co-expression partners for CNIH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CNIH2 Gene:

CNIH2

SOURCE GeneReport for Unigene cluster for CNIH2 Gene:

Hs.437072

mRNA Expression by UniProt/SwissProt for CNIH2 Gene:

Q6PI25-CNIH2_HUMAN
Tissue specificity: Expression is up-regulated in dorsolateral prefrontal cortex of patients with schizophrenia (postmortem brain study).

Evidence on tissue expression from TISSUES for CNIH2 Gene

  • Pancreas(4.2)
  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with CNIH2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CNIH2 Gene

Orthologs for CNIH2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CNIH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNIH2 34 33
  • 99.79 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cnih2 33
  • 97.5 (n)
mouse
(Mus musculus)
Mammalia Cnih2 16 34 33
  • 97.29 (n)
dog
(Canis familiaris)
Mammalia CNIH2 34 33
  • 89.37 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNIH2 34
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNIH2 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cnih2 33
  • 76.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17156 33
zebrafish
(Danio rerio)
Actinopterygii cnih2 34 33
  • 80 (n)
OneToOne
Dr.15131 33
fruit fly
(Drosophila melanogaster)
Insecta cni 34
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cni-1 34
  • 50 (a)
ManyToMany
Y64H9A.1 34
  • 46 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV14 34
  • 32 (a)
ManyToMany
ERV15 34
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5635 34
  • 65 (a)
OneToMany
Species where no ortholog for CNIH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNIH2 Gene

ENSEMBL:
Gene Tree for CNIH2 (if available)
TreeFam:
Gene Tree for CNIH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNIH2: view image

Paralogs for CNIH2 Gene

Paralogs for CNIH2 Gene

(3) SIMAP similar genes for CNIH2 Gene using alignment to 4 proteins:

  • CNIH2_HUMAN
  • E9PIT8_HUMAN
  • E9PJQ8_HUMAN
  • E9PS15_HUMAN
genes like me logo Genes that share paralogs with CNIH2: view

Variants for CNIH2 Gene

Sequence variations from dbSNP and Humsavar for CNIH2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000735819 -- 66,278,028(+) G/A/T upstream_transcript_variant
rs1001063872 -- 66,279,639(+) C/T intron_variant
rs1001210720 -- 66,278,150(+) G/C upstream_transcript_variant
rs1001305418 -- 66,277,729(+) G/A upstream_transcript_variant
rs1001397293 -- 66,282,626(+) G/ intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CNIH2 Gene

Variant ID Type Subtype PubMed ID
nsv1070967 CNV deletion 25765185
nsv1118214 CNV deletion 24896259
nsv1121838 CNV deletion 24896259
nsv555223 CNV loss 21841781
nsv825956 CNV gain 20364138

Variation tolerance for CNIH2 Gene

Residual Variation Intolerance Score: 47.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNIH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNIH2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNIH2 Gene

Disorders for CNIH2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CNIH2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards
Search CNIH2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CNIH2

genes like me logo Genes that share disorders with CNIH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNIH2 Gene

Publications for CNIH2 Gene

  1. Cornichon2 dictates the time course of excitatory transmission at individual hippocampal synapses. (PMID: 24853943) Boudkkazi S … Fakler B (Neuron 2014) 2 3 58
  2. Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia. (PMID: 23103966) Drummond JB … Meador-Woodruff JH (Neuroreport 2012) 3 4 58
  3. Functional comparison of the effects of TARPs and cornichons on AMPA receptor trafficking and gating. (PMID: 20805473) Shi Y … Nicoll RA (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. AMPA receptor modulation by cornichon-2 dictated by transmembrane AMPA receptor regulatory protein isoform. (PMID: 22211840) Gill MB … Bredt DS (The European journal of neuroscience 2012) 3 58

Products for CNIH2 Gene

Sources for CNIH2 Gene

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