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CA8 (carbonic anhydrase 8)

Identity

Alias_namesCALS
carbonic anhydrase VIII
Alias_symbol (synonym)CARP
Other aliasCA-RP
CA-VIII
CAMRQ3
HGNC (Hugo) CA8
LocusID (NCBI) 767
Atlas_Id 47616
Location 8q12.1  [Link to chromosome band 8q12]
Location_base_pair Starts at 61101423 and ends at 61193954 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CA8 (8q12.1) / CORO2B (15q23)SCAI (9q33.3) / CA8 (8q12.1)SCAI 9q33.3 / CA8 8q12.1

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)CA8   1382
Cards
Entrez_Gene (NCBI)CA8  767  carbonic anhydrase 8
AliasesCA-RP; CA-VIII; CALS; CAMRQ3; 
CARP
GeneCards (Weizmann)CA8
Ensembl hg19 (Hinxton)ENSG00000178538 [Gene_View]  chr8:61101423-61193954 [Contig_View]  CA8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000178538 [Gene_View]  chr8:61101423-61193954 [Contig_View]  CA8 [Vega]
ICGC DataPortalENSG00000178538
TCGA cBioPortalCA8
AceView (NCBI)CA8
Genatlas (Paris)CA8
WikiGenes767
SOURCE (Princeton)CA8
Genetics Home Reference (NIH)CA8
Genomic and cartography
GoldenPath hg19 (UCSC)CA8  -     chr8:61101423-61193954 -  8q12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CA8  -     8q12.1   [Description]    (hg38-Dec_2013)
EnsemblCA8 - 8q12.1 [CytoView hg19]  CA8 - 8q12.1 [CytoView hg38]
Mapping of homologs : NCBICA8 [Mapview hg19]  CA8 [Mapview hg38]
OMIM114815   613227   
Gene and transcription
Genbank (Entrez)AK090655 AK289470 AK293999 AK314538 AY075022
RefSeq transcript (Entrez)NM_001321837 NM_001321838 NM_001321839 NM_004056
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_023193 NT_008183 NW_004929339
Consensus coding sequences : CCDS (NCBI)CA8
Cluster EST : UnigeneHs.687269 [ NCBI ]
CGAP (NCI)Hs.687269
Alternative Splicing GalleryENSG00000178538
Gene ExpressionCA8 [ NCBI-GEO ]   CA8 [ EBI - ARRAY_EXPRESS ]   CA8 [ SEEK ]   CA8 [ MEM ]
Gene Expression Viewer (FireBrowse)CA8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)767
GTEX Portal (Tissue expression)CA8
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35219   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35219  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35219
Splice isoforms : SwissVarP35219
PhosPhoSitePlusP35219
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)CA8
DMDM Disease mutations767
Blocks (Seattle)CA8
PDB (SRS)2W2J   
PDB (PDBSum)2W2J   
PDB (IMB)2W2J   
PDB (RSDB)2W2J   
Structural Biology KnowledgeBase2W2J   
SCOP (Structural Classification of Proteins)2W2J   
CATH (Classification of proteins structures)2W2J   
SuperfamilyP35219
Human Protein AtlasENSG00000178538
Peptide AtlasP35219
HPRD00266
IPIIPI00219669   
Protein Interaction databases
DIP (DOE-UCLA)P35219
IntAct (EBI)P35219
FunCoupENSG00000178538
BioGRIDCA8
STRING (EMBL)CA8
ZODIACCA8
Ontologies - Pathways
QuickGOP35219
Ontology : AmiGOcarbonate dehydratase activity  protein binding  cytoplasm  one-carbon metabolic process  zinc ion binding  phosphatidylinositol-mediated signaling  
Ontology : EGO-EBIcarbonate dehydratase activity  protein binding  cytoplasm  one-carbon metabolic process  zinc ion binding  phosphatidylinositol-mediated signaling  
Pathways : KEGGNitrogen metabolism   
NDEx NetworkCA8
Atlas of Cancer Signalling NetworkCA8
Wikipedia pathwaysCA8
Orthology - Evolution
OrthoDB767
GeneTree (enSembl)ENSG00000178538
Phylogenetic Trees/Animal Genes : TreeFamCA8
HOVERGENP35219
HOGENOMP35219
Homologs : HomoloGeneCA8
Homology/Alignments : Family Browser (UCSC)CA8
Gene fusions - Rearrangements
Fusion : MitelmanSCAI/CA8 [9q33.3/8q12.1]  [t(8;9)(q12;q33)]  
Fusion: TCGASCAI 9q33.3 CA8 8q12.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCA8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CA8
dbVarCA8
ClinVarCA8
1000_GenomesCA8 
Exome Variant ServerCA8
ExAC (Exome Aggregation Consortium)CA8 (select the gene name)
Genetic variants : HAPMAP767
Genomic Variants (DGV)CA8 [DGVbeta]
DECIPHER (Syndromes)8:61101423-61193954  ENSG00000178538
CONAN: Copy Number AnalysisCA8 
Mutations
ICGC Data PortalCA8 
TCGA Data PortalCA8 
Broad Tumor PortalCA8
OASIS PortalCA8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCA8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCA8
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 CA8
DgiDB (Drug Gene Interaction Database)CA8
DoCM (Curated mutations)CA8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CA8 (select a term)
intoGenCA8
Cancer3DCA8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114815    613227   
Orphanet1777   
MedgenCA8
Genetic Testing Registry CA8
NextProtP35219 [Medical]
TSGene767
GENETestsCA8
Huge Navigator CA8 [HugePedia]
snp3D : Map Gene to Disease767
BioCentury BCIQCA8
ClinGenCA8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD767
Chemical/Pharm GKB GenePA25997
Clinical trialCA8
Miscellaneous
canSAR (ICR)CA8 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCA8
EVEXCA8
GoPubMedCA8
iHOPCA8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:54:45 CEST 2017

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