Human Gene CNIH2 (uc001ohi.2)
  Description: Homo sapiens cornichon homolog 2 (Drosophila) (CNIH2), transcript variant 1, mRNA.
RefSeq Summary (NM_182553): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:66,045,672-66,051,685 Size: 6,014 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr11:66,045,928-66,051,068 Size: 5,141 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:66,045,672-66,051,685)mRNA (may differ from genome)Protein (160 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CNIH2_HUMAN
DESCRIPTION: RecName: Full=Protein cornichon homolog 2; AltName: Full=Cornichon-like protein;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein (By similarity). Cell projection, dendrite (By similarity). Cell projection, dendritic spine (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Note=Also localizes to the cell membrane of extrasynaptic sites (dendritic shafts, spines of pyramidal cells) (By similarity).
SIMILARITY: Belongs to the cornichon family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CNIH2
Diseases sorted by gene-association score: schizophrenia (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 168.24 RPKM in Brain - Hippocampus
Total median expression: 951.78 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -157.30256-0.614 Picture PostScript Text
3' UTR -285.70617-0.463 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003377 - Cornichon

Pfam Domains:
PF03311 - Cornichon protein

ModBase Predicted Comparative 3D Structure on Q6PI25
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0016192 vesicle-mediated transport
GO:0035249 synaptic transmission, glutamatergic
GO:0042391 regulation of membrane potential
GO:0048208 COPII vesicle coating
GO:0051668 localization within membrane
GO:1902684 negative regulation of receptor localization to synapse
GO:1903743 negative regulation of anterograde synaptic vesicle transport
GO:2000310 regulation of N-methyl-D-aspartate selective glutamate receptor activity
GO:2000311 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity

Cellular Component:
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0012507 ER to Golgi transport vesicle membrane
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030425 dendrite
GO:0032281 AMPA glutamate receptor complex
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0042995 cell projection
GO:0043197 dendritic spine
GO:0043198 dendritic shaft
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  BC047953 - Homo sapiens cornichon homolog 2 (Drosophila), mRNA (cDNA clone IMAGE:6020681), complete cds.
JD210602 - Sequence 191626 from Patent EP1572962.
BC160083 - Synthetic construct Homo sapiens clone IMAGE:100064019, MGC:193198 cornichon homolog 2 (Drosophila) (CNIH2) mRNA, encodes complete protein.
CU690544 - Synthetic construct Homo sapiens gateway clone IMAGE:100021256 5' read CNIH2 mRNA.
HQ448517 - Synthetic construct Homo sapiens clone IMAGE:100071951; CCSB011420_02 cornichon homolog 2 (Drosophila) (CNIH2) gene, encodes complete protein.
KJ895905 - Synthetic construct Homo sapiens clone ccsbBroadEn_05299 CNIH2 gene, encodes complete protein.
AY726585 - Homo sapiens clone MO-01 mRNA sequence.
LF211158 - JP 2014500723-A/18661: Polycomb-Associated Non-Coding RNAs.
JD203324 - Sequence 184348 from Patent EP1572962.
JD394271 - Sequence 375295 from Patent EP1572962.
JD368861 - Sequence 349885 from Patent EP1572962.
JD387607 - Sequence 368631 from Patent EP1572962.
JD380170 - Sequence 361194 from Patent EP1572962.
JD378665 - Sequence 359689 from Patent EP1572962.
JD291022 - Sequence 272046 from Patent EP1572962.
JD389429 - Sequence 370453 from Patent EP1572962.
JD115892 - Sequence 96916 from Patent EP1572962.
JD157468 - Sequence 138492 from Patent EP1572962.
JD271015 - Sequence 252039 from Patent EP1572962.
JD397675 - Sequence 378699 from Patent EP1572962.
JD418413 - Sequence 399437 from Patent EP1572962.
JD298316 - Sequence 279340 from Patent EP1572962.
JD393676 - Sequence 374700 from Patent EP1572962.
JD172497 - Sequence 153521 from Patent EP1572962.
MA446735 - JP 2018138019-A/18661: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q6PI25 (Reactome details) participates in the following event(s):

R-HSA-5694442 CNIH2,3 bind GRIA1
R-HSA-5694522 Inner coat assembly and cargo binding
R-HSA-5694527 Loss of SAR1B GTPase
R-HSA-5694446 BET1:GOSR2:STX5 bind v-SNARES on tethered vesicle
R-HSA-5694417 SEC16 complex binds SAR1B:GTP:SEC23:SEC24
R-HSA-5694441 CSNK1D phosphorylates SEC23
R-HSA-5694439 COPII coat binds TRAPPCII and RAB1:GDP
R-HSA-203973 Vesicle budding
R-HSA-204008 SEC31:SEC13 and v-SNARE recruitment
R-HSA-5694418 RAB1:GTP binds USO1 and GORASP1:GOLGA2
R-HSA-5694409 Nucleotide exchange on RAB1
R-HSA-5694530 Cargo concentration in the ER
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: CNIH2_HUMAN, CNIL, NM_182553, NP_872359, Q6PI25, uc001ohi.1
UCSC ID: uc001ohi.2
RefSeq Accession: NM_182553
Protein: Q6PI25 (aka CNIH2_HUMAN)
CCDS: CCDS8131.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_182553.2
exon count: 6CDS single in 3' UTR: no RNA size: 1356
ORF size: 483CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 972.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.