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CECR2 (cat eye syndrome chromosome region, candidate 2)

Identity

Alias_namescat eye syndrome chromosome region
Alias_symbol (synonym)KIAA1740
Other alias-
HGNC (Hugo) CECR2
LocusID (NCBI) 27443
Atlas_Id 53081
Location 22q11.1  [Link to chromosome band 22q11]
Location_base_pair Starts at 17840839 and ends at 18037856 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CECR2 (22q11.1) / METAP2 (12q22)CECR2 (22q11.1) / PCLO (7q21.11)CECR2 (22q11.1) / ZCCHC7 (9p13.2)
CECR2 (22q11.1) / ZFAND3 (6p21.2)UGP2 (2p15) / CECR2 (22q11.1)

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)CECR2   1840
Cards
Entrez_Gene (NCBI)CECR2  27443  cat eye syndrome chromosome region, candidate 2
Aliases
GeneCards (Weizmann)CECR2
Ensembl hg19 (Hinxton)ENSG00000099954 [Gene_View]  chr22:17840839-18037856 [Contig_View]  CECR2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000099954 [Gene_View]  chr22:17840839-18037856 [Contig_View]  CECR2 [Vega]
ICGC DataPortalENSG00000099954
TCGA cBioPortalCECR2
AceView (NCBI)CECR2
Genatlas (Paris)CECR2
WikiGenes27443
SOURCE (Princeton)CECR2
Genetics Home Reference (NIH)CECR2
Genomic and cartography
GoldenPath hg19 (UCSC)CECR2  -     chr22:17840839-18037856 +  22q11.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CECR2  -     22q11.1   [Description]    (hg38-Dec_2013)
EnsemblCECR2 - 22q11.1 [CytoView hg19]  CECR2 - 22q11.1 [CytoView hg38]
Mapping of homologs : NCBICECR2 [Mapview hg19]  CECR2 [Mapview hg38]
OMIM607576   
Gene and transcription
Genbank (Entrez)AB051527 AF336133 AF411609 AK055696 AK091754
RefSeq transcript (Entrez)NM_001290046 NM_001290047 NM_031413
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_033989 NT_187355 NW_004929429
Consensus coding sequences : CCDS (NCBI)CECR2
Cluster EST : UnigeneHs.658723 [ NCBI ]
CGAP (NCI)Hs.658723
Alternative Splicing GalleryENSG00000099954
Gene ExpressionCECR2 [ NCBI-GEO ]   CECR2 [ EBI - ARRAY_EXPRESS ]   CECR2 [ SEEK ]   CECR2 [ MEM ]
Gene Expression Viewer (FireBrowse)CECR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27443
GTEX Portal (Tissue expression)CECR2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXF3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BXF3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BXF3
Splice isoforms : SwissVarQ9BXF3
PhosPhoSitePlusQ9BXF3
Domaine pattern : Prosite (Expaxy)BROMODOMAIN_1 (PS00633)    BROMODOMAIN_2 (PS50014)   
Domains : Interpro (EBI)Bromodomain    Bromodomain_CS    CECR2    WHIM3_domain   
Domain families : Pfam (Sanger)Bromodomain (PF00439)    WHIM3 (PF15614)   
Domain families : Pfam (NCBI)pfam00439    pfam15614   
Domain families : Smart (EMBL)BROMO (SM00297)  
Conserved Domain (NCBI)CECR2
DMDM Disease mutations27443
Blocks (Seattle)CECR2
PDB (SRS)3NXB   
PDB (PDBSum)3NXB   
PDB (IMB)3NXB   
PDB (RSDB)3NXB   
Structural Biology KnowledgeBase3NXB   
SCOP (Structural Classification of Proteins)3NXB   
CATH (Classification of proteins structures)3NXB   
SuperfamilyQ9BXF3
Human Protein AtlasENSG00000099954
Peptide AtlasQ9BXF3
IPIIPI00848350   IPI00215838   IPI00785169   IPI00853557   IPI00251837   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXF3
IntAct (EBI)Q9BXF3
FunCoupENSG00000099954
BioGRIDCECR2
STRING (EMBL)CECR2
ZODIACCECR2
Ontologies - Pathways
QuickGOQ9BXF3
Ontology : AmiGOcytokinesis  protein binding  nucleus  apoptotic DNA fragmentation  cytoskeleton organization  vesicle-mediated transport  neural tube development  ATP-dependent chromatin remodeling  CERF complex  execution phase of apoptosis  
Ontology : EGO-EBIcytokinesis  protein binding  nucleus  apoptotic DNA fragmentation  cytoskeleton organization  vesicle-mediated transport  neural tube development  ATP-dependent chromatin remodeling  CERF complex  execution phase of apoptosis  
NDEx NetworkCECR2
Atlas of Cancer Signalling NetworkCECR2
Wikipedia pathwaysCECR2
Orthology - Evolution
OrthoDB27443
GeneTree (enSembl)ENSG00000099954
Phylogenetic Trees/Animal Genes : TreeFamCECR2
HOVERGENQ9BXF3
HOGENOMQ9BXF3
Homologs : HomoloGeneCECR2
Homology/Alignments : Family Browser (UCSC)CECR2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCECR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CECR2
dbVarCECR2
ClinVarCECR2
1000_GenomesCECR2 
Exome Variant ServerCECR2
ExAC (Exome Aggregation Consortium)CECR2 (select the gene name)
Genetic variants : HAPMAP27443
Genomic Variants (DGV)CECR2 [DGVbeta]
DECIPHER (Syndromes)22:17840839-18037856  ENSG00000099954
CONAN: Copy Number AnalysisCECR2 
Mutations
ICGC Data PortalCECR2 
TCGA Data PortalCECR2 
Broad Tumor PortalCECR2
OASIS PortalCECR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCECR2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCECR2
BioMutasearch CECR2
DgiDB (Drug Gene Interaction Database)CECR2
DoCM (Curated mutations)CECR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CECR2 (select a term)
intoGenCECR2
Cancer3DCECR2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607576   
Orphanet
MedgenCECR2
Genetic Testing Registry CECR2
NextProtQ9BXF3 [Medical]
TSGene27443
GENETestsCECR2
Huge Navigator CECR2 [HugePedia]
snp3D : Map Gene to Disease27443
BioCentury BCIQCECR2
ClinGenCECR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27443
Chemical/Pharm GKB GenePA26383
Clinical trialCECR2
Miscellaneous
canSAR (ICR)CECR2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCECR2
EVEXCECR2
GoPubMedCECR2
iHOPCECR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:59:55 CET 2017

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