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CA5A (carbonic anhydrase VA, mitochondrial)

Identity

Alias_namesCA5
carbonic anhydrase VA, mitochondrial
Alias_symbol (synonym)CAV
CAVA
Other aliasCA5AD
GS1-21A4.1
HGNC (Hugo) CA5A
LocusID (NCBI) 763
Atlas_Id 61342
Location 16q24.2  [Link to chromosome band 16q24]
Location_base_pair Starts at 87921625 and ends at 87970112 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SLC7A5 (16q24.2) / CA5A (16q24.2)

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)CA5A   1377
Cards
Entrez_Gene (NCBI)CA5A  763  carbonic anhydrase VA, mitochondrial
AliasesCA5; CA5AD; CAV; CAVA; 
GS1-21A4.1
GeneCards (Weizmann)CA5A
Ensembl hg19 (Hinxton) [Gene_View]  chr16:87921625-87970112 [Contig_View]  CA5A [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr16:87921625-87970112 [Contig_View]  CA5A [Vega]
TCGA cBioPortalCA5A
AceView (NCBI)CA5A
Genatlas (Paris)CA5A
WikiGenes763
SOURCE (Princeton)CA5A
Genetics Home Reference (NIH)CA5A
Genomic and cartography
GoldenPath hg19 (UCSC)CA5A  -     chr16:87921625-87970112 -  16q24.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CA5A  -     16q24.2   [Description]    (hg38-Dec_2013)
EnsemblCA5A - 16q24.2 [CytoView hg19]  CA5A - 16q24.2 [CytoView hg38]
Mapping of homologs : NCBICA5A [Mapview hg19]  CA5A [Mapview hg38]
OMIM114761   615751   
Gene and transcription
Genbank (Entrez)BC137405 BC137411 HG508462 L19297
RefSeq transcript (Entrez)NM_001739
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_033227 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)CA5A
Cluster EST : UnigeneHs.177446 [ NCBI ]
CGAP (NCI)Hs.177446
Gene ExpressionCA5A [ NCBI-GEO ]   CA5A [ EBI - ARRAY_EXPRESS ]   CA5A [ SEEK ]   CA5A [ MEM ]
Gene Expression Viewer (FireBrowse)CA5A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)763
GTEX Portal (Tissue expression)CA5A
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35218   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35218  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35218
Splice isoforms : SwissVarP35218
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 ]   
PhosPhoSitePlusP35218
Domaine pattern : Prosite (Expaxy)ALPHA_CA_1 (PS00162)    ALPHA_CA_2 (PS51144)   
Domains : Interpro (EBI)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)CA5A
DMDM Disease mutations763
Blocks (Seattle)CA5A
SuperfamilyP35218
Peptide AtlasP35218
HPRD00262
IPIIPI00017262   
Protein Interaction databases
DIP (DOE-UCLA)P35218
IntAct (EBI)P35218
BioGRIDCA5A
STRING (EMBL)CA5A
ZODIACCA5A
Ontologies - Pathways
QuickGOP35218
Ontology : AmiGOcarbonate dehydratase activity  mitochondrion  mitochondrial matrix  one-carbon metabolic process  zinc ion binding  bicarbonate transport  small molecule metabolic process  
Ontology : EGO-EBIcarbonate dehydratase activity  mitochondrion  mitochondrial matrix  one-carbon metabolic process  zinc ion binding  bicarbonate transport  small molecule metabolic process  
Pathways : KEGGNitrogen metabolism   
NDEx NetworkCA5A
Atlas of Cancer Signalling NetworkCA5A
Wikipedia pathwaysCA5A
Orthology - Evolution
OrthoDB763
Phylogenetic Trees/Animal Genes : TreeFamCA5A
HOVERGENP35218
HOGENOMP35218
Homologs : HomoloGeneCA5A
Homology/Alignments : Family Browser (UCSC)CA5A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCA5A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CA5A
dbVarCA5A
ClinVarCA5A
1000_GenomesCA5A 
Exome Variant ServerCA5A
ExAC (Exome Aggregation Consortium)CA5A (select the gene name)
Genetic variants : HAPMAP763
Genomic Variants (DGV)CA5A [DGVbeta]
DECIPHER (Syndromes)16:87921625-87970112  
CONAN: Copy Number AnalysisCA5A 
Mutations
ICGC Data PortalCA5A 
TCGA Data PortalCA5A 
Broad Tumor PortalCA5A
OASIS PortalCA5A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCA5A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCA5A
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CA5A
DgiDB (Drug Gene Interaction Database)CA5A
DoCM (Curated mutations)CA5A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CA5A (select a term)
intoGenCA5A
Cancer3DCA5A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114761    615751   
Orphanet22857   
MedgenCA5A
Genetic Testing Registry CA5A
NextProtP35218 [Medical]
TSGene763
GENETestsCA5A
Huge Navigator CA5A [HugePedia]
snp3D : Map Gene to Disease763
BioCentury BCIQCA5A
ClinGenCA5A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD763
Chemical/Pharm GKB GenePA25992
Clinical trialCA5A
Miscellaneous
canSAR (ICR)CA5A (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCA5A
EVEXCA5A
GoPubMedCA5A
iHOPCA5A
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 11:57:52 CET 2017

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