Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CNIH2 (cornichon family AMPA receptor auxiliary protein 2)

Identity

Alias (NCBI)CNIH-2
Cnil
HGNC (Hugo) CNIH2
HGNC Alias symbMGC50896
Cnil
CNIH-2
HGNC Previous namecornichon homolog 2 (Drosophila)
LocusID (NCBI) 254263
Atlas_Id 61936
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 66278201 and ends at 66284214 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARFGEF2 (20q13.13) / CNIH2 (11q13.2)CNIH2 (11q13.2) / MS4A4A (11q12.2)CNIH2 (11q13.2) / PACS1 (11q13.1)
KAT2B (3p24.3) / CNIH2 (11q13.2)YIF1A (11q13.2) / CNIH2 (11q13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(11;11)(q12;q13) CNIH2/MS4A4A
t(11;20)(q13;q13) ARFGEF2/CNIH2

External links

Nomenclature
HGNC (Hugo)CNIH2   28744
Cards
Entrez_Gene (NCBI)CNIH2    cornichon family AMPA receptor auxiliary protein 2
AliasesCNIH-2; Cnil
GeneCards (Weizmann)CNIH2
Ensembl hg19 (Hinxton)ENSG00000174871 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174871 [Gene_View]  ENSG00000174871 [Sequence]  chr11:66278201-66284214 [Contig_View]  CNIH2 [Vega]
ICGC DataPortalENSG00000174871
TCGA cBioPortalCNIH2
AceView (NCBI)CNIH2
Genatlas (Paris)CNIH2
SOURCE (Princeton)CNIH2
Genetics Home Reference (NIH)CNIH2
Genomic and cartography
GoldenPath hg38 (UCSC)CNIH2  -     chr11:66278201-66284214 +  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CNIH2  -     11q13.2   [Description]    (hg19-Feb_2009)
GoldenPathCNIH2 - 11q13.2 [CytoView hg19]  CNIH2 - 11q13.2 [CytoView hg38]
ImmunoBaseENSG00000174871
genome Data Viewer NCBICNIH2 [Mapview hg19]  
OMIM611288   
Gene and transcription
Genbank (Entrez)AI928591 AY726585 BC047953 BM547951 DR760677
RefSeq transcript (Entrez)NM_182553
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CNIH2
Alternative Splicing GalleryENSG00000174871
Gene ExpressionCNIH2 [ NCBI-GEO ]   CNIH2 [ EBI - ARRAY_EXPRESS ]   CNIH2 [ SEEK ]   CNIH2 [ MEM ]
Gene Expression Viewer (FireBrowse)CNIH2 [ Firebrowse - Broad ]
GenevisibleExpression of CNIH2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)254263
GTEX Portal (Tissue expression)CNIH2
Human Protein AtlasENSG00000174871-CNIH2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6PI25   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6PI25  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6PI25
Splice isoforms : SwissVarQ6PI25
PhosPhoSitePlusQ6PI25
Domaine pattern : Prosite (Expaxy)CORNICHON (PS01340)   
Domains : Interpro (EBI)Cornichon    Cornichon_conserved   
Domain families : Pfam (Sanger)Cornichon (PF03311)   
Domain families : Pfam (NCBI)pfam03311   
Domain families : Smart (EMBL)Cornichon (SM01398)  
Conserved Domain (NCBI)CNIH2
Blocks (Seattle)CNIH2
SuperfamilyQ6PI25
Human Protein Atlas [tissue]ENSG00000174871-CNIH2 [tissue]
Peptide AtlasQ6PI25
HPRD13078
IPIIPI00335052   IPI00983151   IPI00984743   IPI00981763   
Protein Interaction databases
DIP (DOE-UCLA)Q6PI25
IntAct (EBI)Q6PI25
BioGRIDCNIH2
STRING (EMBL)CNIH2
ZODIACCNIH2
Ontologies - Pathways
QuickGOQ6PI25
Ontology : AmiGOGolgi membrane  protein binding  endoplasmic reticulum membrane  ER to Golgi vesicle-mediated transport  ER to Golgi transport vesicle membrane  postsynaptic density  cell junction  dendrite  AMPA glutamate receptor complex  endoplasmic reticulum-Golgi intermediate compartment membrane  synaptic transmission, glutamatergic  regulation of membrane potential  dendritic spine  dendritic shaft  postsynaptic membrane  COPII vesicle coating  localization within membrane  regulation of postsynaptic neurotransmitter receptor activity  glutamatergic synapse  integral component of postsynaptic density membrane  negative regulation of receptor localization to synapse  negative regulation of anterograde synaptic vesicle transport  regulation of NMDA receptor activity  regulation of AMPA receptor activity  
Ontology : EGO-EBIGolgi membrane  protein binding  endoplasmic reticulum membrane  ER to Golgi vesicle-mediated transport  ER to Golgi transport vesicle membrane  postsynaptic density  cell junction  dendrite  AMPA glutamate receptor complex  endoplasmic reticulum-Golgi intermediate compartment membrane  synaptic transmission, glutamatergic  regulation of membrane potential  dendritic spine  dendritic shaft  postsynaptic membrane  COPII vesicle coating  localization within membrane  regulation of postsynaptic neurotransmitter receptor activity  glutamatergic synapse  integral component of postsynaptic density membrane  negative regulation of receptor localization to synapse  negative regulation of anterograde synaptic vesicle transport  regulation of NMDA receptor activity  regulation of AMPA receptor activity  
NDEx NetworkCNIH2
Atlas of Cancer Signalling NetworkCNIH2
Wikipedia pathwaysCNIH2
Orthology - Evolution
OrthoDB254263
GeneTree (enSembl)ENSG00000174871
Phylogenetic Trees/Animal Genes : TreeFamCNIH2
HOGENOMQ6PI25
Homologs : HomoloGeneCNIH2
Homology/Alignments : Family Browser (UCSC)CNIH2
Gene fusions - Rearrangements
Fusion : QuiverCNIH2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCNIH2 [hg38]
dbVarCNIH2
ClinVarCNIH2
MonarchCNIH2
1000_GenomesCNIH2 
Exome Variant ServerCNIH2
GNOMAD BrowserENSG00000174871
Varsome BrowserCNIH2
Genomic Variants (DGV)CNIH2 [DGVbeta]
DECIPHERCNIH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCNIH2 
Mutations
ICGC Data PortalCNIH2 
TCGA Data PortalCNIH2 
Broad Tumor PortalCNIH2
OASIS PortalCNIH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCNIH2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCNIH2
Mutations and Diseases : HGMDCNIH2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CNIH2
DgiDB (Drug Gene Interaction Database)CNIH2
DoCM (Curated mutations)CNIH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CNIH2 (select a term)
intoGenCNIH2
Cancer3DCNIH2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611288   
Orphanet
DisGeNETCNIH2
MedgenCNIH2
Genetic Testing Registry CNIH2
NextProtQ6PI25 [Medical]
GENETestsCNIH2
Target ValidationCNIH2
Huge Navigator CNIH2 [HugePedia]
ClinGenCNIH2
Clinical trials, drugs, therapy
MyCancerGenomeCNIH2
Protein Interactions : CTD
Pharm GKB GenePA134887358
Clinical trialCNIH2
Miscellaneous
canSAR (ICR)CNIH2 (select the gene name)
HarmonizomeCNIH2
DataMed IndexCNIH2
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCNIH2
EVEXCNIH2
GoPubMedCNIH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:50:16 CET 2020
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