Aliases for CNIH3 Gene

Aliases for CNIH3 Gene

  • Cornichon Family AMPA Receptor Auxiliary Protein 3 2 3 4 5
  • CNIH-3 2 3 4
  • Protein Cornichon Homolog 3 3 4
  • Cornichon Homolog 3 (Drosophila) 2
  • Cornichon Homolog 3 3
  • FLJ38993 2
  • CNIH3 5

External Ids for CNIH3 Gene

Previous GeneCards Identifiers for CNIH3 Gene

  • GC01P221111
  • GC01P222870
  • GC01P224622
  • GC01P195324

Summaries for CNIH3 Gene

GeneCards Summary for CNIH3 Gene

CNIH3 (Cornichon Family AMPA Receptor Auxiliary Protein 3) is a Protein Coding gene. Diseases associated with CNIH3 include Tarp Syndrome and Schizophrenia. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include channel regulator activity. An important paralog of this gene is CNIH2.

UniProtKB/Swiss-Prot Summary for CNIH3 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.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNIH3 Gene

Genomics for CNIH3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CNIH3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNIH3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNIH3

Top Transcription factor binding sites by QIAGEN in the CNIH3 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXO4
  • HSF2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for CNIH3 Gene

Genomic Locations for CNIH3 Gene
chr1:224,434,640-224,740,554
(GRCh38/hg38)
Size:
305,915 bases
Orientation:
Plus strand
chr1:224,622,362-224,928,251
(GRCh37/hg19)
Size:
305,890 bases
Orientation:
Plus strand

Genomic View for CNIH3 Gene

Genes around CNIH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNIH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNIH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNIH3 Gene

Proteins for CNIH3 Gene

  • Protein details for CNIH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBE1-CNIH3_HUMAN
    Recommended name:
    Protein cornichon homolog 3
    Protein Accession:
    Q8TBE1

    Protein attributes for CNIH3 Gene

    Size:
    160 amino acids
    Molecular mass:
    18976 Da
    Quaternary structure:
    • Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CACNG2, CACNG3, CACNG4, CACNG5, CACNG7 and CACNG8 (By similarity).

neXtProt entry for CNIH3 Gene

Post-translational modifications for CNIH3 Gene

No Post-translational modifications

Other Protein References for CNIH3 Gene

No data available for DME Specific Peptides for CNIH3 Gene

Domains & Families for CNIH3 Gene

Gene Families for CNIH3 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CNIH3 Gene

InterPro:
Blocks:
  • Cornichon
ProtoNet:

Suggested Antigen Peptide Sequences for CNIH3 Gene

GenScript: Design optimal peptide antigens:
  • Protein cornichon homolog 3 (CNIH3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TBE1

UniProtKB/Swiss-Prot:

CNIH3_HUMAN :
  • Belongs to the cornichon family.
Family:
  • Belongs to the cornichon family.
genes like me logo Genes that share domains with CNIH3: view

Function for CNIH3 Gene

Molecular function for CNIH3 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.

Phenotypes From GWAS Catalog for CNIH3 Gene

Gene Ontology (GO) - Molecular Function for CNIH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016247 channel regulator activity IEA --
genes like me logo Genes that share ontologies with CNIH3: view
genes like me logo Genes that share phenotypes with CNIH3: view

Animal Models for CNIH3 Gene

MGI Knock Outs for CNIH3:
  • Cnih3 Cnih3<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNIH3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CNIH3 Gene

Localization for CNIH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNIH3 Gene

Cell junction, synapse, postsynaptic cell membrane. Multi-pass membrane protein. 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 CNIH3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
extracellular 3
golgi apparatus 2
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CNIH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IEA --
GO:0012507 ER to Golgi transport vesicle membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CNIH3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNIH3 Gene

Pathways & Interactions for CNIH3 Gene

genes like me logo Genes that share pathways with CNIH3: view

Gene Ontology (GO) - Biological Process for CNIH3 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 CNIH3: view

No data available for SIGNOR curated interactions for CNIH3 Gene

Drugs & Compounds for CNIH3 Gene

No Compound Related Data Available

Transcripts for CNIH3 Gene

mRNA/cDNA for CNIH3 Gene

5 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNIH3

Alternative Splicing Database (ASD) splice patterns (SP) for CNIH3 Gene

No ASD Table

Relevant External Links for CNIH3 Gene

GeneLoc Exon Structure for
CNIH3

Expression for CNIH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CNIH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNIH3 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.0), Brain - Anterior cingulate cortex (BA24) (x5.0), Brain - Cortex (x4.7), and Brain - Hippocampus (x4.2).

Protein differential expression in normal tissues from HIPED for CNIH3 Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CNIH3 Gene



Protein tissue co-expression partners for CNIH3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNIH3

SOURCE GeneReport for Unigene cluster for CNIH3 Gene:

Hs.731723

mRNA Expression by UniProt/SwissProt for CNIH3 Gene:

Q8TBE1-CNIH3_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 CNIH3 Gene

  • Nervous system(4.2)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with CNIH3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CNIH3 Gene

Orthologs for CNIH3 Gene

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

Orthologs for CNIH3 Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia CNIH3 31
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia CNIH3 30 31
  • 99.17 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CNIH3 31
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CNIH3 30 31
  • 93.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cnih3 30
  • 92.71 (n)
Mouse
(Mus musculus)
Mammalia Cnih3 30 17 31
  • 91.04 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CNIH3 30 31
  • 90.83 (n)
OneToOne
Chicken
(Gallus gallus)
Aves CNIH3 30 31
  • 84.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CNIH3 31
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cnih3 30
  • 80.62 (n)
Zebrafish
(Danio rerio)
Actinopterygii cnih3 30 31
  • 77 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta cni 31
  • 53 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cni-1 31
  • 52 (a)
ManyToMany
Y64H9A.1 31
  • 52 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV14 31
  • 28 (a)
ManyToMany
ERV15 31
  • 25 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5635 31
  • 67 (a)
OneToMany
Species where no ortholog for CNIH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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 CNIH3 Gene

ENSEMBL:
Gene Tree for CNIH3 (if available)
TreeFam:
Gene Tree for CNIH3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNIH3: view image

Paralogs for CNIH3 Gene

Paralogs for CNIH3 Gene

(4) SIMAP similar genes for CNIH3 Gene using alignment to 1 proteins:

  • CNIH3_HUMAN
genes like me logo Genes that share paralogs with CNIH3: view

Variants for CNIH3 Gene

Additional dbSNP identifiers (rs#s) for CNIH3 Gene

Structural Variations from Database of Genomic Variants (DGV) for CNIH3 Gene

Variant ID Type Subtype PubMed ID
dgv102n67 CNV loss 20364138
esv24936 CNV gain 19812545
esv26044 CNV loss 19812545
esv2670242 CNV deletion 23128226
esv2723761 CNV deletion 23290073
esv3588977 CNV loss 21293372
nsv474794 CNV novel sequence insertion 20440878
nsv524125 CNV gain 19592680
nsv549261 CNV loss 21841781

Variation tolerance for CNIH3 Gene

Residual Variation Intolerance Score: 57.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.47; 10.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNIH3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNIH3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNIH3 Gene

Disorders for CNIH3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CNIH3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tarp syndrome
  • tarps
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards
Search CNIH3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CNIH3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CNIH3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNIH3 Gene

Publications for CNIH3 Gene

  1. Upregulation of cornichon transcripts in the dorsolateral prefrontal cortex in schizophrenia. (PMID: 23103966) Drummond JB … Meador-Woodruff JH (Neuroreport 2012) 3 4
  2. 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
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for CNIH3 Gene

Sources for CNIH3 Gene