Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CNIH3 Gene

Aliases for CNIH3 Gene

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

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. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. GO annotations related to this gene include channel regulator activity. An important paralog of this gene is CNIH2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for CNIH3 Gene

Genomics for CNIH3 Gene

Regulatory Elements for CNIH3 Gene

Enhancers for CNIH3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G224528 1.4 Ensembl ENCODE dbSUPER 16.1 +94.6 94631 1.7 ATF1 GLIS2 ELK1 GATA2 FOS ZNF263 JUNB REST ZNF518A SMARCA4 CNIH3 CNIH4 LOC102723817 GC01P224480 AKR1B1P1
GH01G224501 2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +68.7 68693 3.0 CREB3L1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 MEF2D ZNF610 CICP5 CNIH4 WDR26 CNIH3 GC01P224480 AKR1B1P1
GH01G224496 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +64.5 64524 4.4 HDGF PKNOX1 ATF1 ARNT FEZF1 ZNF2 ETS1 TCF12 CBX5 GATA2 CNIH4 CICP5 CNIH3 WDR26 GC01P224480 AKR1B1P1
GH01G224622 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +189.1 189092 2.6 ZNF133 FEZF1 ZNF2 ZNF766 ZNF302 GATA2 ZNF548 FOS SP3 TSHZ1 CICP5 GTF2IP20 CNIH3 LOC105373106 LOC102723817 ENSG00000234247
GH01G224456 1.4 Ensembl ENCODE dbSUPER 12.9 +23.6 23566 4.1 HDGF ARID4B ZNF2 RAD21 RFX5 EGR1 ZNF143 FOS RELB ZNF263 CNIH4 CNIH3 WDR26 NVL DEGS1 GC01M224438 GC01P224480
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CNIH3 on UCSC Golden Path with GeneCards custom track

Promoters for CNIH3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000020875 -860 3601 CREB3L1 DMAP1 FEZF1 YY1 ZNF143 ZNF416 ZNF548 ZNF263 SP3 MEF2D

Genomic Location for CNIH3 Gene

Chromosome:
1
Start:
224,434,660 bp from pter
End:
224,740,567 bp from pter
Size:
305,908 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

Protein Domains for CNIH3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CNIH3 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for CNIH3 Gene

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.

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

Phenotypes for CNIH3 Gene

MGI mutant phenotypes for CNIH3:
inferred from 1 alleles
GenomeRNAi human phenotypes for CNIH3:
genes like me logo Genes that share phenotypes with CNIH3: view

Animal Model Products

CRISPR Products

miRNA for CNIH3 Gene

miRTarBase miRNAs that target CNIH3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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

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

Pathways & Interactions for CNIH3 Gene

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

Interacting Proteins for CNIH3 Gene

Gene Ontology (GO) - Biological Process for CNIH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
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

Transcripts for CNIH3 Gene

Unigene Clusters for CNIH3 Gene

Cornichon homolog 3 (Drosophila):
Representative Sequences:

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

No ASD Table

Relevant External Links for CNIH3 Gene

GeneLoc Exon Structure for
CNIH3
ECgene alternative splicing isoforms for
CNIH3

Expression for CNIH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for CNIH3 Gene



Protein tissue co-expression partners for CNIH3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CNIH3 Gene:

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

  • Lung(4.1)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with CNIH3: view

Primer Products

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 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CNIH3 34 35
  • 99.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CNIH3 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CNIH3 34 35
  • 93.75 (n)
rat
(Rattus norvegicus)
Mammalia Cnih3 34
  • 92.71 (n)
mouse
(Mus musculus)
Mammalia Cnih3 34 16 35
  • 91.04 (n)
dog
(Canis familiaris)
Mammalia CNIH3 34 35
  • 90.83 (n)
chicken
(Gallus gallus)
Aves CNIH3 34 35
  • 84.58 (n)
lizard
(Anolis carolinensis)
Reptilia CNIH3 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cnih3 34
  • 80.62 (n)
zebrafish
(Danio rerio)
Actinopterygii cnih3 34 35
  • 77 (n)
fruit fly
(Drosophila melanogaster)
Insecta cni 35
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cni-1 35
  • 52 (a)
ManyToMany
Y64H9A.1 35
  • 52 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERV14 35
  • 28 (a)
ManyToMany
ERV15 35
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5635 35
  • 67 (a)
OneToMany
Species where no ortholog for CNIH3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CNIH3 Gene

Paralogs for CNIH3 Gene

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

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

Variants for CNIH3 Gene

Sequence variations from dbSNP and Humsavar for CNIH3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs796052210 Uncertain significance 224,434,047(-) AGGAG(A/G)AGGGG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1000000663 -- 224,529,421(+) TTCAG(G/T)TATGA intron-variant
rs1000011439 -- 224,493,211(+) TGTAT(A/G)TAAAC intron-variant
rs1000016082 -- 224,648,609(+) GGGCT(G/T)GGGGA intron-variant
rs1000031254 -- 224,628,005(+) CTTTT(A/C)CCTCT intron-variant

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)

Relevant External Links for CNIH3 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNIH3 Gene

Disorders for CNIH3 Gene

Relevant External Links for CNIH3

Genetic Association Database (GAD)
CNIH3
Human Genome Epidemiology (HuGE) Navigator
CNIH3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNIH3

No disorders were found for CNIH3 Gene.

No data available for MalaCards , 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 J.B. … Meador-Woodruff J.H. (Neuroreport 2012) 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Functional comparison of the effects of TARPs and cornichons on AMPA receptor trafficking and gating. (PMID: 20805473) Shi Y. … Nicoll R.A. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for CNIH3 Gene

Sources for CNIH3 Gene

Content
Loading form....