Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CCBL2 (cysteine conjugate-beta lyase 2)

Identity

Other aliasKAT3
KATIII
HGNC (Hugo) CCBL2
LocusID (NCBI) 56267
Atlas_Id 61458
Location 1p22.2  [Link to chromosome band 1p22]
Location_base_pair Starts at 89401456 and ends at 89458643 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GTF2B (1p22.2) / CCBL2 (1p22.2)

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

 


External links

Nomenclature
HGNC (Hugo)CCBL2   33238
Cards
Entrez_Gene (NCBI)CCBL2  56267  cysteine conjugate-beta lyase 2
AliasesKAT3; KATIII
GeneCards (Weizmann)CCBL2
Ensembl hg19 (Hinxton)ENSG00000137944 [Gene_View]  chr1:89401456-89458643 [Contig_View]  CCBL2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000137944 [Gene_View]  chr1:89401456-89458643 [Contig_View]  CCBL2 [Vega]
ICGC DataPortalENSG00000137944
TCGA cBioPortalCCBL2
AceView (NCBI)CCBL2
Genatlas (Paris)CCBL2
WikiGenes56267
SOURCE (Princeton)CCBL2
Genetics Home Reference (NIH)CCBL2
Genomic and cartography
GoldenPath hg19 (UCSC)CCBL2  -     chr1:89401456-89458643 -  1p22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CCBL2  -     1p22.2   [Description]    (hg38-Dec_2013)
EnsemblCCBL2 - 1p22.2 [CytoView hg19]  CCBL2 - 1p22.2 [CytoView hg38]
Mapping of homologs : NCBICCBL2 [Mapview hg19]  CCBL2 [Mapview hg38]
OMIM610656   
Gene and transcription
Genbank (Entrez)AF091090 AI478599 AK057176 AK301326 AK315917
RefSeq transcript (Entrez)NM_001008661 NM_001008662
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)CCBL2
Cluster EST : UnigeneHs.481898 [ NCBI ]
CGAP (NCI)Hs.481898
Alternative Splicing GalleryENSG00000137944
Gene ExpressionCCBL2 [ NCBI-GEO ]   CCBL2 [ EBI - ARRAY_EXPRESS ]   CCBL2 [ SEEK ]   CCBL2 [ MEM ]
Gene Expression Viewer (FireBrowse)CCBL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56267
GTEX Portal (Tissue expression)CCBL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6YP21   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6YP21  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6YP21
Splice isoforms : SwissVarQ6YP21
Catalytic activity : Enzyme2.6.1.7 [ Enzyme-Expasy ]   2.6.1.72.6.1.7 [ IntEnz-EBI ]   2.6.1.7 [ BRENDA ]   2.6.1.7 [ KEGG ]   
PhosPhoSitePlusQ6YP21
Domains : Interpro (EBI)Aminotransferase_I/II    PyrdxlP-dep_Trfase    PyrdxlP-dep_Trfase_major_sub1    PyrdxlP-dep_Trfase_major_sub2   
Domain families : Pfam (Sanger)Aminotran_1_2 (PF00155)   
Domain families : Pfam (NCBI)pfam00155   
Conserved Domain (NCBI)CCBL2
DMDM Disease mutations56267
Blocks (Seattle)CCBL2
SuperfamilyQ6YP21
Human Protein AtlasENSG00000137944
Peptide AtlasQ6YP21
HPRD13752
IPIIPI00465373   IPI00465006   IPI00553183   IPI00647840   
Protein Interaction databases
DIP (DOE-UCLA)Q6YP21
IntAct (EBI)Q6YP21
FunCoupENSG00000137944
BioGRIDCCBL2
STRING (EMBL)CCBL2
ZODIACCCBL2
Ontologies - Pathways
QuickGOQ6YP21
Ontology : AmiGOmitochondrion  2-oxoglutarate metabolic process  cellular amino acid metabolic process  tryptophan catabolic process  biosynthetic process  kynurenine-oxoglutarate transaminase activity  pyridoxal phosphate binding  cellular nitrogen compound metabolic process  protein homodimerization activity  small molecule metabolic process  poly(A) RNA binding  kynurenine-glyoxylate transaminase activity  cysteine-S-conjugate beta-lyase activity  kynurenine metabolic process  L-kynurenine metabolic process  L-kynurenine metabolic process  
Ontology : EGO-EBImitochondrion  2-oxoglutarate metabolic process  cellular amino acid metabolic process  tryptophan catabolic process  biosynthetic process  kynurenine-oxoglutarate transaminase activity  pyridoxal phosphate binding  cellular nitrogen compound metabolic process  protein homodimerization activity  small molecule metabolic process  poly(A) RNA binding  kynurenine-glyoxylate transaminase activity  cysteine-S-conjugate beta-lyase activity  kynurenine metabolic process  L-kynurenine metabolic process  L-kynurenine metabolic process  
Pathways : KEGGTryptophan metabolism    Selenocompound metabolism    Chemical carcinogenesis   
NDEx NetworkCCBL2
Atlas of Cancer Signalling NetworkCCBL2
Wikipedia pathwaysCCBL2
Orthology - Evolution
OrthoDB56267
GeneTree (enSembl)ENSG00000137944
Phylogenetic Trees/Animal Genes : TreeFamCCBL2
HOVERGENQ6YP21
HOGENOMQ6YP21
Homologs : HomoloGeneCCBL2
Homology/Alignments : Family Browser (UCSC)CCBL2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCCBL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CCBL2
dbVarCCBL2
ClinVarCCBL2
1000_GenomesCCBL2 
Exome Variant ServerCCBL2
ExAC (Exome Aggregation Consortium)CCBL2 (select the gene name)
Genetic variants : HAPMAP56267
Genomic Variants (DGV)CCBL2 [DGVbeta]
DECIPHER (Syndromes)1:89401456-89458643  ENSG00000137944
CONAN: Copy Number AnalysisCCBL2 
Mutations
ICGC Data PortalCCBL2 
TCGA Data PortalCCBL2 
Broad Tumor PortalCCBL2
OASIS PortalCCBL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCCBL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCCBL2
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 CCBL2
DgiDB (Drug Gene Interaction Database)CCBL2
DoCM (Curated mutations)CCBL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CCBL2 (select a term)
intoGenCCBL2
Cancer3DCCBL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610656   
Orphanet
MedgenCCBL2
Genetic Testing Registry CCBL2
NextProtQ6YP21 [Medical]
TSGene56267
GENETestsCCBL2
Huge Navigator CCBL2 [HugePedia]
snp3D : Map Gene to Disease56267
BioCentury BCIQCCBL2
ClinGenCCBL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56267
Chemical/Pharm GKB GenePA162381274
Clinical trialCCBL2
Miscellaneous
canSAR (ICR)CCBL2 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCCBL2
EVEXCCBL2
GoPubMedCCBL2
iHOPCCBL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 11:58:16 CET 2017

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