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Aliases for CA4 Gene

Aliases for CA4 Gene

  • Carbonic Anhydrase 4 2 3 5
  • Carbonic Anhydrase IV 2 3 4
  • Carbonate Dehydratase IV 3 4
  • CA-IV 3 4
  • Retinitis Pigmentosa 17 (Autosomal Dominant) 2
  • Carbonic Dehydratase IV 3
  • EC 4.2.1.1 4
  • CAIV 3
  • Car4 3
  • RP17 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 4) 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 Nitrogen metabolism. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA12.

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 (EC 4.2.1.1) 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.

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

Enhancers for CA4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F060151 0.5 FANTOM5 14.6 +1.6 1629 0.3 MAX KDM1A REST ETV6 HES1 MYC VMP1 USP32 CA4 PPM1D GC17M060146
GH17F060161 1.4 FANTOM5 Ensembl ENCODE 10.8 +12.6 12565 3.0 PKNOX1 ZNF493 KLF17 BMI1 RAD21 ZBTB40 GLIS2 CREM CEBPB ZEB2 VMP1 USP32 CA4 LOC100996660 RPL32P32 HEATR6 PPM1D GC17M060146
GH17F060387 1.1 FANTOM5 ENCODE 10.1 +241.2 241236 6.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 USP32 NDUFB8P2 PPM1D RPL32P32 CA4 APPBP2 HEATR6 BCAS3 RNFT1 C17orf64
GH17F059751 1.2 FANTOM5 Ensembl ENCODE 6.4 -388.5 -388452 20.4 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 RPS6KB1 NDUFB8P2 LOC101927755 MIR21 RNU6-450P TUBD1 PPM1D SMG8 CA4 DHX40
GH17F059781 1.3 VISTA FANTOM5 ENCODE 6.2 -363.4 -363447 9.5 CREB3L1 MLX ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 LOC101927755 SKA2 RPS6KB1 LOC100996660 RNU6-450P MIR21 PPM1D TRIM37 VMP1 DHX40
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CA4 on UCSC Golden Path with GeneCards custom track

Promoters for CA4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001808564 164 201 ZNF202 CTCF MAZ GLIS1 WT1 EZH2

Genomic Location for CA4 Gene

Chromosome:
17
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

Genes around CA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    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

Post-translational modifications for CA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

No data available for DME Specific Peptides for CA4 Gene

Domains & Families for CA4 Gene

Gene Families for CA4 Gene

Suggested Antigen Peptide Sequences for CA4 Gene

Graphical View of Domain Structure for InterPro Entry

P22748

UniProtKB/Swiss-Prot:

CAH4_HUMAN :
  • Contains 1 alpha-carbonic anhydrase domain.
  • Belongs to the alpha-carbonic anhydrase family.
Domain:
  • Contains 1 alpha-carbonic anhydrase domain.
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 --
GO:0016829 lyase activity IEA --
GO:0046872 metal 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

Human Phenotype Ontology for CA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CA4 Gene

MGI Knock Outs for CA4:

Animal Model Products

Inhibitory RNA Products

Clone 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

COMPARTMENTS
Jensen Localization Image for CA4 Gene COMPARTMENTS Subcellular localization image for CA4 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 5
golgi apparatus 4
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
chloroplast 1
peroxisome 1
vacuole 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 IEA,TAS --
genes like me logo Genes that share ontologies with CA4: view

Pathways & Interactions 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:0015701 bicarbonate transport IMP,TAS --
genes like me logo Genes that share ontologies with CA4: view

No data available for SIGNOR curated interactions for CA4 Gene

Drugs & Compounds for CA4 Gene

(25) Drugs for CA4 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chlorothiazide Approved, Vet_approved Pharma Inhibition, Inhibitor, inhibitor, Target Carbonic anhydrase inhibitor 7
Dichlorphenamide Approved Pharma Target, inhibitor 2
Methazolamide Approved Pharma inhibitor, Target Carbonic anhydrase inhibitor 7
Topiramate Approved Pharma antagonist, Target, inhibitor GluR5 receptor antagonist,anticonvulsant, GluR5 antagonist; inhibits carbonic anhydrase (CA) II and IV 247
Acetazolamide Approved, Vet_approved Pharma inhibitor, Target 75

(12) Additional Compounds for CA4 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
71-52-3
sodium
  • Sodium
  • Sodium ion
7440-23-5
S4
1330061-67-0

(2) Tocris Compounds for CA4 Gene

Compound Action Cas Number
S4 High affinity and selective CA IX and CA XII inhibitor 1330061-67-0
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
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:

Inhibitory RNA Products

Clone Products

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
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 (x10.4), Colon - Transverse (x6.4), Brain - Cerebellar Hemisphere (x4.5), and Brain - Cerebellum (x4.5).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB and MOPED for CA4 Gene



NURSA nuclear receptor signaling pathways regulating expression of CA4 Gene:

CA4

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 expression patterns with CA4: view

Primer Products

No data available for Protein tissue co-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
chimpanzee
(Pan troglodytes)
Mammalia CA4 34 35
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia CA4 34 35
  • 79.42 (n)
cow
(Bos Taurus)
Mammalia CA4 34 35
  • 79.04 (n)
rat
(Rattus norvegicus)
Mammalia Car4 34
  • 70.75 (n)
mouse
(Mus musculus)
Mammalia Car4 34 16 35
  • 69.31 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 48 (a)
OneToMany
-- 35
  • 37 (a)
OneToMany
chicken
(Gallus gallus)
Aves CA4 34 35
  • 51.08 (n)
lizard
(Anolis carolinensis)
Reptilia CA4 35
  • 38 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ca4 34
  • 48.08 (n)
zebrafish
(Danio rerio)
Actinopterygii ca4b 34 35
  • 51.71 (n)
ca4a 35
  • 39 (a)
OneToMany
ca4c 35
  • 34 (a)
OneToMany
CA4 (8 of 8) 35
  • 33 (a)
OneToMany
ca15a 35
  • 31 (a)
OneToMany
ca15b 35
  • 31 (a)
OneToMany
CA4 (7 of 8) 35
  • 31 (a)
OneToMany
ca15c 35
  • 30 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CAH2 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cah-3 35
  • 31 (a)
ManyToMany
cah-5 35
  • 29 (a)
ManyToMany
Species where no ortholog for CA4 was found in the sources mined by GeneCards:
  • 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

(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
rs104894559 Retinitis pigmentosa 17 (RP17) [MIM:600852], Pathogenic 60,150,074(+) CGGCG(C/T)GGCCA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs121434551 Retinitis pigmentosa 17 (RP17) [MIM:600852], Pathogenic 60,158,357(+) ACTTC(A/C/T)GCTAC nc-transcript-variant, reference, missense
rs121434552 Retinitis pigmentosa 17 (RP17) [MIM:600852], Pathogenic 60,156,653(+) GGGAC(A/G)CTTCT nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_071430 Retinitis pigmentosa 17 (RP17) [MIM:600852]
rs117704637 untested 60,158,402(+) AGGTC(A/G)TCTGG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv3365847 CNV insertion 20981092
nsv519766 CNV loss 19592680
nsv527094 CNV loss 19592680
nsv528050 CNV gain 19592680
nsv7295 OTHER inversion 18451855
nsv833504 CNV gain 17160897
nsv9579 CNV gain+loss 18304495

Variation tolerance for CA4 Gene

Residual Variation Intolerance Score: 72.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CA4 Gene

Human Gene Mutation Database (HGMD)
CA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CA4

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

Disorders for CA4 Gene

MalaCards: The human disease database

(10) MalaCards diseases for CA4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 17
  • rp17
ca4-related retinitis pigmentosa
  • retinitis pigmentosa 17
retinitis pigmentosa
  • retinitis pigmentosa 1
herpangina
  • vesicular pharyngitis
liver rhabdomyosarcoma
  • rhabdomyosarcoma of liver
- elite association - COSMIC cancer census association via MalaCards
Search CA4 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for CA4

Genetic Association Database (GAD)
CA4
Human Genome Epidemiology (HuGE) Navigator
CA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CA4
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 22 64
  2. Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients. (PMID: 20450258) Tian Y. … Zhu X. (Curr. Eye Res. 2010) 3 4 22 64
  3. 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 22 64
  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 22 64
  5. 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 22 64

Products for CA4 Gene

Sources for CA4 Gene

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