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CA5B (carbonic anhydrase 5B)

Identity

Alias_namescarbonic anhydrase VB, mitochondrial
Other aliasCA-VB
HGNC (Hugo) CA5B
LocusID (NCBI) 11238
Atlas_Id 61343
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 15738289 and ends at 15787625 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)
LOC100507412 (-) / CA5B (Xp22.2)

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)CA5B   1378
Cards
Entrez_Gene (NCBI)CA5B  11238  carbonic anhydrase 5B
AliasesCA-VB
GeneCards (Weizmann)CA5B
Ensembl hg19 (Hinxton)ENSG00000169239 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169239 [Gene_View]  chrX:15738289-15787625 [Contig_View]  CA5B [Vega]
ICGC DataPortalENSG00000169239
TCGA cBioPortalCA5B
AceView (NCBI)CA5B
Genatlas (Paris)CA5B
WikiGenes11238
SOURCE (Princeton)CA5B
Genetics Home Reference (NIH)CA5B
Genomic and cartography
GoldenPath hg38 (UCSC)CA5B  -     chrX:15738289-15787625 +  Xp22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CA5B  -     Xp22.2   [Description]    (hg19-Feb_2009)
EnsemblCA5B - Xp22.2 [CytoView hg19]  CA5B - Xp22.2 [CytoView hg38]
Mapping of homologs : NCBICA5B [Mapview hg19]  CA5B [Mapview hg38]
OMIM300230   
Gene and transcription
Genbank (Entrez)AA811880 AB021660 AK057568 AK291050 BC028142
RefSeq transcript (Entrez)NM_007220
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CA5B
Cluster EST : UnigeneHs.653287 [ NCBI ]
CGAP (NCI)Hs.653287
Alternative Splicing GalleryENSG00000169239
Gene ExpressionCA5B [ NCBI-GEO ]   CA5B [ EBI - ARRAY_EXPRESS ]   CA5B [ SEEK ]   CA5B [ MEM ]
Gene Expression Viewer (FireBrowse)CA5B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11238
GTEX Portal (Tissue expression)CA5B
Human Protein AtlasENSG00000169239-CA5B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2D0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2D0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2D0
Splice isoforms : SwissVarQ9Y2D0
Catalytic activity : Enzyme4.2.1.1 [ Enzyme-Expasy ]   4.2.1.14.2.1.1 [ IntEnz-EBI ]   4.2.1.1 [ BRENDA ]   4.2.1.1 [ KEGG ]   
PhosPhoSitePlusQ9Y2D0
Domaine pattern : Prosite (Expaxy)ALPHA_CA_1 (PS00162)    ALPHA_CA_2 (PS51144)   
Domains : Interpro (EBI)CA-VB_mt    Carbonic_anhydrase_a    Carbonic_anhydrase_a-class    Carbonic_anhydrase_a-class_CS   
Domain families : Pfam (Sanger)Carb_anhydrase (PF00194)   
Domain families : Pfam (NCBI)pfam00194   
Domain families : Smart (EMBL)Carb_anhydrase (SM01057)  
Conserved Domain (NCBI)CA5B
DMDM Disease mutations11238
Blocks (Seattle)CA5B
SuperfamilyQ9Y2D0
Human Protein Atlas [tissue]ENSG00000169239-CA5B [tissue]
Peptide AtlasQ9Y2D0
HPRD02207
IPIIPI00032055   IPI00947361   IPI00946652   IPI00946988   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2D0
IntAct (EBI)Q9Y2D0
FunCoupENSG00000169239
BioGRIDCA5B
STRING (EMBL)CA5B
ZODIACCA5B
Ontologies - Pathways
QuickGOQ9Y2D0
Ontology : AmiGOcarbonate dehydratase activity  mitochondrion  mitochondrial matrix  one-carbon metabolic process  zinc ion binding  bicarbonate transport  
Ontology : EGO-EBIcarbonate dehydratase activity  mitochondrion  mitochondrial matrix  one-carbon metabolic process  zinc ion binding  bicarbonate transport  
Pathways : KEGGNitrogen metabolism   
NDEx NetworkCA5B
Atlas of Cancer Signalling NetworkCA5B
Wikipedia pathwaysCA5B
Orthology - Evolution
OrthoDB11238
GeneTree (enSembl)ENSG00000169239
Phylogenetic Trees/Animal Genes : TreeFamCA5B
HOVERGENQ9Y2D0
HOGENOMQ9Y2D0
Homologs : HomoloGeneCA5B
Homology/Alignments : Family Browser (UCSC)CA5B
Gene fusions - Rearrangements
Tumor Fusion PortalCA5B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCA5B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CA5B
dbVarCA5B
ClinVarCA5B
1000_GenomesCA5B 
Exome Variant ServerCA5B
ExAC (Exome Aggregation Consortium)ENSG00000169239
GNOMAD BrowserENSG00000169239
Genetic variants : HAPMAP11238
Genomic Variants (DGV)CA5B [DGVbeta]
DECIPHERCA5B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCA5B 
Mutations
ICGC Data PortalCA5B 
TCGA Data PortalCA5B 
Broad Tumor PortalCA5B
OASIS PortalCA5B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCA5B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCA5B
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CA5B
DgiDB (Drug Gene Interaction Database)CA5B
DoCM (Curated mutations)CA5B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CA5B (select a term)
intoGenCA5B
Cancer3DCA5B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300230   
Orphanet
DisGeNETCA5B
MedgenCA5B
Genetic Testing Registry CA5B
NextProtQ9Y2D0 [Medical]
TSGene11238
GENETestsCA5B
Target ValidationCA5B
Huge Navigator CA5B [HugePedia]
snp3D : Map Gene to Disease11238
BioCentury BCIQCA5B
ClinGenCA5B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11238
Chemical/Pharm GKB GenePA25993
Clinical trialCA5B
Miscellaneous
canSAR (ICR)CA5B (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCA5B
EVEXCA5B
GoPubMedCA5B
iHOPCA5B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:59:16 CET 2017

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