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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 4.2.1.1 4
  • CAIV 3
  • Car4 3

External Ids for CA4 Gene

Previous Symbols for CA4 Gene

  • RP17

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 herpangina. 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

Genomic Location for CA4 Gene

Start:
60,149,936 bp from pter
End:
60,170,899 bp from pter
Size:
20,964 bases
Orientation:
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

Regulatory Elements for CA4 Gene

Proteins for CA4 Gene

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

    Protein Symbol:
    P22748-CAH4_HUMAN
    Recommended name:
    Carbonic anhydrase 4
    Protein Accession:
    P22748
    Secondary Accessions:
    • B4DQA4
    • Q6FHI7

    Protein attributes for CA4 Gene

    Size:
    312 amino acids
    Molecular mass:
    35032 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

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:

No data available for DME Specific Peptides for CA4 Gene

Domains for CA4 Gene

Gene Families for CA4 Gene

HGNC:
  • CA :Carbonic anhydrases

UniProtKB/Swiss-Prot:

CAH4_HUMAN
Family:
  • Belongs to the alpha-carbonic anhydrase family.:
    • P22748
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:

No data available for miRNA , Transcription Factor Targeting 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

COMPARTMENTS
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

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

Compounds for CA4 Gene

(1) Tocris Compounds for CA4 Gene

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

(8) HMDB Compounds for CA4 Gene

Compound Synonyms Cas Number PubMed IDs
Carbon dioxide
  • Carbon oxide
124-38-9
Carbonic acid
  • acid of air
463-79-6
Hydrochlorothiazide
  • 3,4-Dihydrochlorothiazide
58-93-5
Hydrogen carbonate
  • Bicarbonate
71-52-3
Sodium
  • Sodium
7440-23-5

(17) Drugbank Compounds for CA4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Acetazolamide
  • Acetamidothiadiazolesulfonamide
59-66-5 target inhibitor
Bendroflumethiazide
  • Bendrofluazide
73-48-3 target inhibitor
Benzthiazide
91-33-8 target inhibitor
Brinzolamide
138890-62-7 target inhibitor
Chlorothiazide
  • Chlorothiazid
58-94-6 target inhibitor

(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:

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
CA4
ECgene alternative splicing isoforms for
CA4

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).

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

P22748-CAH4_HUMAN
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

Orthologs for CA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for CA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CA4 36
  • 99.47 (n)
  • 98.72 (a)
CA4 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CA4 36
  • 79.04 (n)
  • 69.76 (a)
CA4 37
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CA4 36
  • 79.42 (n)
  • 70.1 (a)
CA4 37
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Car4 36
  • 69.31 (n)
  • 55.86 (a)
Car4 16
Car4 37
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 48 (a)
OneToMany
-- 37
  • 37 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Car4 36
  • 70.75 (n)
  • 58.16 (a)
chicken
(Gallus gallus)
Aves CA4 36
  • 51.08 (n)
  • 41.98 (a)
CA4 37
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CA4 37
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ca4 36
  • 48.08 (n)
  • 39.93 (a)
zebrafish
(Danio rerio)
Actinopterygii ca15a 37
  • 31 (a)
OneToMany
ca15b 37
  • 31 (a)
OneToMany
ca15c 37
  • 30 (a)
OneToMany
CA4 (7 of 8) 37
  • 31 (a)
OneToMany
CA4 (8 of 8) 37
  • 33 (a)
OneToMany
ca4a 37
  • 39 (a)
OneToMany
ca4b 36
  • 51.71 (n)
  • 42.59 (a)
ca4b 37
  • 34 (a)
OneToMany
ca4c 37
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CAH2 37
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cah-3 37
  • 31 (a)
ManyToMany
cah-5 37
  • 29 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for CA4 (if available)
TreeFam:
Gene Tree for CA4 (if available)

Paralogs for CA4 Gene

Paralogs for CA4 Gene

Selected 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
CA4
Human Gene Mutation Database (HGMD)
CA4

Disorders for CA4 Gene

(1) OMIM Diseases for CA4 Gene (114760)

UniProtKB/Swiss-Prot

CAH4_HUMAN
  • 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)
CA4
Human Genome Epidemiology (HuGE) Navigator
CA4
genes like me logo Genes that share disorders with CA4: view

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. Carbonic anhydrase IV from human lung. Purification, characterization, and comparison with membrane carbonic anhydrase from human kidney. (PMID: 2111324) Zhu X.L. … Sly W.S. (J. Biol. Chem. 1990) 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. Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranes. (PMID: 1311094) Okuyama T. … Sly W.S. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 23
  5. Carbonic anhydrase IV: role of removal of C-terminal domain in glycosylphosphatidylinositol anchoring and realization of enzyme activity. (PMID: 7625839) Okuyama T. … Sly W.S. (Arch. Biochem. Biophys. 1995) 3 4 23

Products for CA4 Gene

Sources for CA4 Gene

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