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Aliases for CA4 Gene

Aliases for CA4 Gene

  • Carbonic Anhydrase IV 2 3 4
  • Carbonate Dehydratase IV 3 4
  • CA-IV 3 4
  • RP17 3 6
  • Retinitis Pigmentosa 17 (Autosomal Dominant) 2
  • Carbonic Dehydratase IV 3
  • Carbonic Anhydrase 4 3
  • EC 4
  • CAIV 3
  • Car4 3

External Ids for CA4 Gene

Previous HGNC Symbols for CA4 Gene

  • RP17

Previous GeneCards Identifiers for CA4 Gene

  • GC17M057703
  • GC17P060677
  • GC17P058569
  • GC17P058701
  • GC17P055582
  • GC17P058227
  • GC17P053598

Summaries for CA4 Gene

Entrez Gene Summary for CA4 Gene

  • Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]

GeneCards Summary for CA4 Gene

CA4 (Carbonic Anhydrase IV) is a Protein Coding gene. Diseases associated with CA4 include retinitis pigmentosa 17 and ca4-related retinitis pigmentosa. Among its related pathways are Metabolism and Proximal tubule bicarbonate reclamation. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA14.

UniProtKB/Swiss-Prot for CA4 Gene

  • Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid.

Tocris Summary for CA4 Gene

  • Carbonic anhydrases are zinc-containing enzymes belonging to the lyases family, and are primarily responsible for catalyzing the reversible hydration of carbon dioxide to form bicarbonate (HCO3-) and hydrogen (H+) ions. There are several different carbonic anhydrase isoforms; these can be broadly grouped into cytosolic (CA I, CA II, CA III, CA VII, CA XIII), mitochondrial (CA VA, CA VB), secreted (CA VI) and membrane-associated (CA IV, CA IX, CA XII, CA XIV) carbonic anhydrases. The functions of the remaining carbonic anhydrases are yet to be elucidated. Expression of the membrane-bound carbonic anhydrase, CA IX, has been reported in hypoxic tumors where its activity is linked to promoting survival of tumor cells and aiding cancer progression. This is thought to occur through the carbonic anhyrase-mediated production of bicarbonate ions, which neutralizes the abnormally acidic pH of the extracellular environment induced during hypoxia. Furthermore, as CA IX is a hypoxia- and HIF-1-inducible enzyme, its expression can be used as a biomarker for hypoxic tumors.

Gene Wiki entry for CA4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CA4 Gene

Genomics for CA4 Gene

Regulatory Elements for CA4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CA4 Gene

60,149,936 bp from pter
60,170,899 bp from pter
20,964 bases
Plus strand

Genomic View for CA4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CA4 Gene

Proteins for CA4 Gene

  • Protein details for CA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Carbonic anhydrase 4
    Protein Accession:
    Secondary Accessions:
    • B4DQA4
    • Q6FHI7

    Protein attributes for CA4 Gene

    312 amino acids
    Molecular mass:
    35032 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with SLC4A4.

    Three dimensional structures from OCA and Proteopedia for CA4 Gene

    Alternative splice isoforms for CA4 Gene


neXtProt entry for CA4 Gene

Proteomics data for CA4 Gene at MOPED

Post-translational modifications for CA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CA4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CA4 (Carbonic Anhydrase IV/CA4)

No data available for DME Specific Peptides for CA4 Gene

Domains for CA4 Gene

Gene Families for CA4 Gene

Suggested Antigen Peptide Sequences for CA4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the alpha-carbonic anhydrase family.
  • Belongs to the alpha-carbonic anhydrase family.
genes like me logo Genes that share domains with CA4: view

Function for CA4 Gene

Molecular function for CA4 Gene

GENATLAS Biochemistry:
carbonic anhydrase IV,cell surface membrane,expressed in lung capillaries and kidney
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=21.5 mM for CO(2) {ECO:0000269 PubMed:18618712};
UniProtKB/Swiss-Prot CatalyticActivity:
H(2)CO(3) = CO(2) + H(2)O
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by histamine, L-adrenaline, D-phenylalanine, L- and D-histidine. Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide and Foscarnet (phosphonoformate trisodium salt).
UniProtKB/Swiss-Prot Function:
Reversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid.

Enzyme Numbers (IUBMB) for CA4 Gene

Gene Ontology (GO) - Molecular Function for CA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004089 carbonate dehydratase activity TAS --
GO:0005515 protein binding IPI 15563508
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with CA4: view
genes like me logo Genes that share phenotypes with CA4: view

Animal Models for CA4 Gene

MGI Knock Outs for CA4:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CA4

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for CA4 Gene

Localization for CA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CA4 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

Jensen Localization Image for CA4 Gene COMPARTMENTS Subcellular localization image for CA4 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
golgi apparatus 4
cytoskeleton 2
extracellular 2
nucleus 2
chloroplast 1
cytosol 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005791 rough endoplasmic reticulum IDA 17409381
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 17409381
GO:0005794 Golgi apparatus IDA 17409381
GO:0005802 trans-Golgi network IDA 17409381
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CA4: view

Pathways for CA4 Gene

genes like me logo Genes that share pathways with CA4: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IEA --
GO:0008152 metabolic process --
GO:0015701 bicarbonate transport TAS --
GO:0042493 response to drug IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with CA4: view

Drugs for CA4 Gene

(17) Drugbank Compounds for CA4 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • 1,2-Benzisoxazole-3-methanesulfonamide
68291-97-4 5734 Target inhibitor approved, investigational
  • 2-acetylamino-1,3,4-Thiadiazole-5-sulfonamide
59-66-5 1986 Target inhibitor approved
  • +--3-Benzyl-3,4-dihydro-6-(trifluoromethyl)-2H-1,2,4-benzothiadiazine-7-sulfonamide 1,1-dioxide
73-48-3 2315 Target inhibitor approved
  • 3-((Benzylthio)methyl)-6-chloro-7-sulfamoyl-2H-benzo-1,2,4-thiadiazine 1,1-dioxide
91-33-8 2343 Target inhibitor approved
  • Azopt
138890-62-7 68844 Target inhibitor approved

(1) Tocris Compounds for CA4 Gene

Compound Action Cas Number
U 104 Potent carbonic anhydrase (CA) IX and XII inhibitor [178606-66-1]

(7) ApexBio Compounds for CA4 Gene

Compound Action Cas Number
Brinzolamide CA II inhibitor [138890-62-7]
Chlorothiazide Carbonic anhydrase inhibitor [58-94-6]
Dichlorphenamide [120-97-8]
Dorzolamide HCl Carbonic anhydrase inhibitor [130693-82-2]
Methazolamide Carbonic anhydrase inhibitor [554-57-4]
Topiramate GluR5 receptor antagonist,anticonvulsant [97240-79-4]
U-104 CAIX inhibitor [178606-66-1]

(22) HMDB Compounds for CA4 Gene

(12) Novoseek inferred chemical compound relationships for CA4 Gene

Compound -log(P) Hits PubMed IDs
benzolamide 73.5 1
bicarbonate 67.6 14
sulfonamide 60.8 1
acetazolamide 58.2 3
halide 41.8 1
genes like me logo Genes that share compounds with CA4: view

Transcripts for CA4 Gene

Unigene Clusters for CA4 Gene

Carbonic anhydrase IV:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CA4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CA4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
SP1: - -
SP2: -
SP3: -

Relevant External Links for CA4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CA4 Gene

mRNA expression in normal human tissues for CA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CA4 Gene

This gene is overexpressed in Whole Blood (10.4), Colon - Transverse (6.4), Brain - Cerebellar Hemisphere (4.5), and Brain - Cerebellum (4.5).

Protein differential expression in normal tissues for CA4 Gene

This gene is overexpressed in Lung (18.0), Brain (8.0), Urine (7.9), Seminal vesicle (7.9), and Heart (6.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CA4 Gene

SOURCE GeneReport for Unigene cluster for CA4 Gene Hs.89485

mRNA Expression by UniProt/SwissProt for CA4 Gene

Tissue specificity: Expressed in the endothelium of the choriocapillaris in eyes (at protein level). Not expressed in the retinal epithelium at detectable levels.
genes like me logo Genes that share expressions with CA4: view

Primer Products

In Situ Assay Products

No data available for Expression partners for CA4 Gene

Orthologs for CA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CA4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CA4 35
  • 79.04 (n)
  • 69.76 (a)
CA4 36
  • 69 (a)
(Canis familiaris)
Mammalia CA4 35
  • 79.42 (n)
  • 70.1 (a)
CA4 36
  • 70 (a)
(Mus musculus)
Mammalia Car4 35
  • 69.31 (n)
  • 55.86 (a)
Car4 16
Car4 36
  • 57 (a)
(Pan troglodytes)
Mammalia CA4 35
  • 99.47 (n)
  • 98.72 (a)
CA4 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Car4 35
  • 70.75 (n)
  • 58.16 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 48 (a)
-- 36
  • 37 (a)
(Gallus gallus)
Aves CA4 35
  • 51.08 (n)
  • 41.98 (a)
CA4 36
  • 37 (a)
(Anolis carolinensis)
Reptilia CA4 36
  • 38 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ca4 35
  • 48.08 (n)
  • 39.93 (a)
(Danio rerio)
Actinopterygii ca4b 35
  • 51.71 (n)
  • 42.59 (a)
ca15a 36
  • 31 (a)
ca15b 36
  • 31 (a)
ca15c 36
  • 30 (a)
CA4 (7 of 8) 36
  • 31 (a)
CA4 (8 of 8) 36
  • 33 (a)
ca4a 36
  • 39 (a)
ca4b 36
  • 34 (a)
ca4c 36
  • 34 (a)
fruit fly
(Drosophila melanogaster)
Insecta CAH2 36
  • 27 (a)
(Caenorhabditis elegans)
Secernentea cah-3 36
  • 31 (a)
cah-5 36
  • 29 (a)
Species with no ortholog for CA4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CA4 Gene

Gene Tree for CA4 (if available)
Gene Tree for CA4 (if available)

Paralogs for CA4 Gene

Paralogs for CA4 Gene

(6) SIMAP similar genes for CA4 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CA4: view

Variants for CA4 Gene

Sequence variations from dbSNP and Humsavar for CA4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs171104 -- 60,150,867(+) CTTGC(C/G)CCTGA intron-variant
rs180777 -- 60,150,725(+) GCCTT(A/C/G/T)TTTTC intron-variant
rs191502 -- 60,150,712(+) CGCCT(A/C)AACGC intron-variant
rs193205 -- 60,150,823(+) GCGGT(C/G)TGGCA intron-variant
rs193206 -- 60,150,732(+) TTTCT(A/C)ACCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CA4 Gene

Variant ID Type Subtype PubMed ID
nsv7295 OTHER Inversion 18451855
nsv833504 CNV Gain 17160897
nsv9579 CNV Gain+Loss 18304495
nsv527094 CNV Loss 19592680
nsv519766 CNV Loss 19592680
nsv528050 CNV Gain 19592680

Relevant External Links for CA4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CA4 Gene

Disorders for CA4 Gene

(1) OMIM Diseases for CA4 Gene (114760)


  • Retinitis pigmentosa 17 (RP17) [MIM:600852]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:15563508, ECO:0000269 PubMed:17652713, ECO:0000269 PubMed:20450258}. Note=The disease is caused by mutations affecting the gene represented in this entry. Defective acid overload removal from retina and retinal epithelium, due to mutant CA4, is responsible for photoreceptor degeneration, indicating that impaired pH homeostasis is the most likely cause underlying the RP17 phenotype.

(4) Novoseek inferred disease relationships for CA4 Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 71.9 7
glaucoma 37.9 3
cystic fibrosis 14.2 1
pancreatitis 9.38 2

Relevant External Links for CA4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CA4: view

No data available for Genatlas for CA4 Gene

Publications for CA4 Gene

  1. Genomic organization and localization of gene for human carbonic anhydrase IV to chromosome 17q. (PMID: 8325641) Okuyama T. … Sly W.S. (Genomics 1993) 2 3 4 23
  2. Crystal structure of the secretory form of membrane-associated human carbonic anhydrase IV at 2.8-A resolution. (PMID: 8942978) Stams T. … Christianson D.W. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 23
  3. Carbonic anhydrase IV: purification of a secretory form of the recombinant human enzyme and identification of the positions and importance of its disulfide bonds. (PMID: 8809084) Waheed A. … Sly W.S. (Arch. Biochem. Biophys. 1996) 3 4 23
  4. Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. (PMID: 15563508) Yang Z. … Zhang K. (Hum. Mol. Genet. 2005) 3 4 23
  5. Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. (PMID: 17652713) Alvarez B.V. … Casey J.R. (Invest. Ophthalmol. Vis. Sci. 2007) 3 4 23

Products for CA4 Gene

Sources for CA4 Gene

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