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CA4 (carbonic anhydrase 4)

Identity

Alias_namesRP17
retinitis pigmentosa 17 (autosomal dominant)
carbonic anhydrase IV
Alias_symbol (synonym)CAIV
Car4
Other alias
HGNC (Hugo) CA4
LocusID (NCBI) 762
Atlas_Id 54890
Location 17q23.1  [Link to chromosome band 17q23]
Location_base_pair Starts at 58227302 and ends at 58236906 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COIL (17q22) / CA4 (17q23.1)TANC2 (17q23.2) / CA4 (17q23.1)COIL 17q22 / CA4 17q23.1

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)CA4   1375
Cards
Entrez_Gene (NCBI)CA4  762  carbonic anhydrase 4
AliasesCAIV; Car4; RP17
GeneCards (Weizmann)CA4
Ensembl hg19 (Hinxton)ENSG00000167434 [Gene_View]  chr17:58227302-58236906 [Contig_View]  CA4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000167434 [Gene_View]  chr17:58227302-58236906 [Contig_View]  CA4 [Vega]
ICGC DataPortalENSG00000167434
TCGA cBioPortalCA4
AceView (NCBI)CA4
Genatlas (Paris)CA4
WikiGenes762
SOURCE (Princeton)CA4
Genetics Home Reference (NIH)CA4
Genomic and cartography
GoldenPath hg19 (UCSC)CA4  -     chr17:58227302-58236906 +  17q23.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CA4  -     17q23.1   [Description]    (hg38-Dec_2013)
EnsemblCA4 - 17q23.1 [CytoView hg19]  CA4 - 17q23.1 [CytoView hg38]
Mapping of homologs : NCBICA4 [Mapview hg19]  CA4 [Mapview hg38]
OMIM114760   600852   
Gene and transcription
Genbank (Entrez)AI990988 AK289715 AK298710 BC057792 BC069649
RefSeq transcript (Entrez)NM_000717
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_012050 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)CA4
Cluster EST : UnigeneHs.89485 [ NCBI ]
CGAP (NCI)Hs.89485
Alternative Splicing GalleryENSG00000167434
Gene ExpressionCA4 [ NCBI-GEO ]   CA4 [ EBI - ARRAY_EXPRESS ]   CA4 [ SEEK ]   CA4 [ MEM ]
Gene Expression Viewer (FireBrowse)CA4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)762
GTEX Portal (Tissue expression)CA4
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22748   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22748  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22748
Splice isoforms : SwissVarP22748
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 ]   
PhosPhoSitePlusP22748
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    Carbonic_anhydrase_CA4   
Domain families : Pfam (Sanger)Carb_anhydrase (PF00194)   
Domain families : Pfam (NCBI)pfam00194   
Domain families : Smart (EMBL)Carb_anhydrase (SM01057)  
Conserved Domain (NCBI)CA4
DMDM Disease mutations762
Blocks (Seattle)CA4
PDB (SRS)1ZNC    3F7B    3F7U    3FW3   
PDB (PDBSum)1ZNC    3F7B    3F7U    3FW3   
PDB (IMB)1ZNC    3F7B    3F7U    3FW3   
PDB (RSDB)1ZNC    3F7B    3F7U    3FW3   
Structural Biology KnowledgeBase1ZNC    3F7B    3F7U    3FW3   
SCOP (Structural Classification of Proteins)1ZNC    3F7B    3F7U    3FW3   
CATH (Classification of proteins structures)1ZNC    3F7B    3F7U    3FW3   
SuperfamilyP22748
Human Protein AtlasENSG00000167434
Peptide AtlasP22748
HPRD00261
IPIIPI00027466   IPI00909328   
Protein Interaction databases
DIP (DOE-UCLA)P22748
IntAct (EBI)P22748
FunCoupENSG00000167434
BioGRIDCA4
STRING (EMBL)CA4
ZODIACCA4
Ontologies - Pathways
QuickGOP22748
Ontology : AmiGOcarbonate dehydratase activity  protein binding  rough endoplasmic reticulum  endoplasmic reticulum-Golgi intermediate compartment  Golgi apparatus  trans-Golgi network  plasma membrane  plasma membrane  one-carbon metabolic process  zinc ion binding  cell surface  bicarbonate transport  bicarbonate transport  membrane  basolateral plasma membrane  apical plasma membrane  transport vesicle membrane  secretory granule membrane  anchored component of external side of plasma membrane  brush border membrane  perinuclear region of cytoplasm  extracellular exosome  
Ontology : EGO-EBIcarbonate dehydratase activity  protein binding  rough endoplasmic reticulum  endoplasmic reticulum-Golgi intermediate compartment  Golgi apparatus  trans-Golgi network  plasma membrane  plasma membrane  one-carbon metabolic process  zinc ion binding  cell surface  bicarbonate transport  bicarbonate transport  membrane  basolateral plasma membrane  apical plasma membrane  transport vesicle membrane  secretory granule membrane  anchored component of external side of plasma membrane  brush border membrane  perinuclear region of cytoplasm  extracellular exosome  
Pathways : KEGGNitrogen metabolism    Proximal tubule bicarbonate reclamation   
NDEx NetworkCA4
Atlas of Cancer Signalling NetworkCA4
Wikipedia pathwaysCA4
Orthology - Evolution
OrthoDB762
GeneTree (enSembl)ENSG00000167434
Phylogenetic Trees/Animal Genes : TreeFamCA4
HOVERGENP22748
HOGENOMP22748
Homologs : HomoloGeneCA4
Homology/Alignments : Family Browser (UCSC)CA4
Gene fusions - Rearrangements
Fusion : MitelmanCOIL/CA4 [17q22/17q23.1]  [t(17;17)(q22;q23)]  
Fusion: TCGACOIL 17q22 CA4 17q23.1 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCA4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CA4
dbVarCA4
ClinVarCA4
1000_GenomesCA4 
Exome Variant ServerCA4
ExAC (Exome Aggregation Consortium)CA4 (select the gene name)
Genetic variants : HAPMAP762
Genomic Variants (DGV)CA4 [DGVbeta]
DECIPHER (Syndromes)17:58227302-58236906  ENSG00000167434
CONAN: Copy Number AnalysisCA4 
Mutations
ICGC Data PortalCA4 
TCGA Data PortalCA4 
Broad Tumor PortalCA4
OASIS PortalCA4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCA4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCA4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch CA4
DgiDB (Drug Gene Interaction Database)CA4
DoCM (Curated mutations)CA4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CA4 (select a term)
intoGenCA4
Cancer3DCA4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM114760    600852   
Orphanet659   
MedgenCA4
Genetic Testing Registry CA4
NextProtP22748 [Medical]
TSGene762
GENETestsCA4
Huge Navigator CA4 [HugePedia]
snp3D : Map Gene to Disease762
BioCentury BCIQCA4
ClinGenCA4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD762
Chemical/Pharm GKB GenePA25991
Clinical trialCA4
Miscellaneous
canSAR (ICR)CA4 (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCA4
EVEXCA4
GoPubMedCA4
iHOPCA4
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 12:58:23 CET 2017

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