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CHRND (cholinergic receptor nicotinic delta subunit)

Identity

Alias_namesACHRD
cholinergic receptor, nicotinic, delta
cholinergic receptor, nicotinic, delta (muscle)
cholinergic receptor, nicotinic delta
Other aliasCMS2A
CMS3A
CMS3B
CMS3C
FCCMS
SCCMS
HGNC (Hugo) CHRND
LocusID (NCBI) 1144
Atlas_Id 61817
Location 2q37.1  [Link to chromosome band 2q37]
Location_base_pair Starts at 232526160 and ends at 232536665 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GIGYF2 (2q37.1) / CHRND (2q37.1)

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

 


External links

Nomenclature
HGNC (Hugo)CHRND   1965
Cards
Entrez_Gene (NCBI)CHRND  1144  cholinergic receptor nicotinic delta subunit
AliasesACHRD; CMS2A; CMS3A; CMS3B; 
CMS3C; FCCMS; SCCMS
GeneCards (Weizmann)CHRND
Ensembl hg19 (Hinxton)ENSG00000135902 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135902 [Gene_View]  chr2:232526160-232536665 [Contig_View]  CHRND [Vega]
ICGC DataPortalENSG00000135902
TCGA cBioPortalCHRND
AceView (NCBI)CHRND
Genatlas (Paris)CHRND
WikiGenes1144
SOURCE (Princeton)CHRND
Genetics Home Reference (NIH)CHRND
Genomic and cartography
GoldenPath hg38 (UCSC)CHRND  -     chr2:232526160-232536665 +  2q37.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHRND  -     2q37.1   [Description]    (hg19-Feb_2009)
EnsemblCHRND - 2q37.1 [CytoView hg19]  CHRND - 2q37.1 [CytoView hg38]
Mapping of homologs : NCBICHRND [Mapview hg19]  CHRND [Mapview hg38]
OMIM100720   253290   616321   616322   616323   
Gene and transcription
Genbank (Entrez)AK291526 AK296704 AK300109 AK304890 AK315297
RefSeq transcript (Entrez)NM_000751 NM_001256657 NM_001311195 NM_001311196
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHRND
Cluster EST : UnigeneHs.156289 [ NCBI ]
CGAP (NCI)Hs.156289
Alternative Splicing GalleryENSG00000135902
Gene ExpressionCHRND [ NCBI-GEO ]   CHRND [ EBI - ARRAY_EXPRESS ]   CHRND [ SEEK ]   CHRND [ MEM ]
Gene Expression Viewer (FireBrowse)CHRND [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1144
GTEX Portal (Tissue expression)CHRND
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ07001   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ07001  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ07001
Splice isoforms : SwissVarQ07001
PhosPhoSitePlusQ07001
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)Acetylcholine_rcpt_TM    Neur_chan_lig-bd    Neur_channel    Neurotrans-gated_channel_TM    Neurotransmitter_ion_chnl_CS    Nicotinic_acetylcholine_rcpt   
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
Conserved Domain (NCBI)CHRND
DMDM Disease mutations1144
Blocks (Seattle)CHRND
SuperfamilyQ07001
Human Protein AtlasENSG00000135902
Peptide AtlasQ07001
HPRD01516
IPIIPI00014192   IPI00915865   IPI00910167   IPI00910587   IPI00917116   IPI00916662   
Protein Interaction databases
DIP (DOE-UCLA)Q07001
IntAct (EBI)Q07001
FunCoupENSG00000135902
BioGRIDCHRND
STRING (EMBL)CHRND
ZODIACCHRND
Ontologies - Pathways
QuickGOQ07001
Ontology : AmiGOskeletal muscle contraction  plasma membrane  acetylcholine-gated channel complex  transport  muscle contraction  signal transduction  synaptic transmission, cholinergic  neuromuscular synaptic transmission  ligand-gated ion channel activity  acetylcholine-gated cation-selective channel activity  cell junction  response to nicotine  acetylcholine binding  postsynaptic membrane  skeletal muscle tissue growth  musculoskeletal movement  neuromuscular process  excitatory postsynaptic potential  cation transmembrane transport  
Ontology : EGO-EBIskeletal muscle contraction  plasma membrane  acetylcholine-gated channel complex  transport  muscle contraction  signal transduction  synaptic transmission, cholinergic  neuromuscular synaptic transmission  ligand-gated ion channel activity  acetylcholine-gated cation-selective channel activity  cell junction  response to nicotine  acetylcholine binding  postsynaptic membrane  skeletal muscle tissue growth  musculoskeletal movement  neuromuscular process  excitatory postsynaptic potential  cation transmembrane transport  
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkCHRND
Atlas of Cancer Signalling NetworkCHRND
Wikipedia pathwaysCHRND
Orthology - Evolution
OrthoDB1144
GeneTree (enSembl)ENSG00000135902
Phylogenetic Trees/Animal Genes : TreeFamCHRND
HOVERGENQ07001
HOGENOMQ07001
Homologs : HomoloGeneCHRND
Homology/Alignments : Family Browser (UCSC)CHRND
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHRND [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHRND
dbVarCHRND
ClinVarCHRND
1000_GenomesCHRND 
Exome Variant ServerCHRND
ExAC (Exome Aggregation Consortium)CHRND (select the gene name)
Genetic variants : HAPMAP1144
Genomic Variants (DGV)CHRND [DGVbeta]
DECIPHERCHRND [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHRND 
Mutations
ICGC Data PortalCHRND 
TCGA Data PortalCHRND 
Broad Tumor PortalCHRND
OASIS PortalCHRND [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHRND  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHRND
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHRND
DgiDB (Drug Gene Interaction Database)CHRND
DoCM (Curated mutations)CHRND (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHRND (select a term)
intoGenCHRND
Cancer3DCHRND(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM100720    253290    616321    616322    616323   
Orphanet10308    13930    13930   
MedgenCHRND
Genetic Testing Registry CHRND
NextProtQ07001 [Medical]
TSGene1144
GENETestsCHRND
Target ValidationCHRND
Huge Navigator CHRND [HugePedia]
snp3D : Map Gene to Disease1144
BioCentury BCIQCHRND
ClinGenCHRND
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1144
Chemical/Pharm GKB GenePA26497
Clinical trialCHRND
Miscellaneous
canSAR (ICR)CHRND (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHRND
EVEXCHRND
GoPubMedCHRND
iHOPCHRND
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:04:48 CEST 2017

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