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Aliases for CA3 Gene

Aliases for CA3 Gene

  • Carbonic Anhydrase 3 2 3 3 5
  • Carbonic Anhydrase III, Muscle Specific 2 3
  • Carbonate Dehydratase III 3 4
  • Carbonic Anhydrase III 2 4
  • CA-III 3 4
  • Epididymis Secretory Sperm Binding Protein Li 167mP 3
  • HEL-S-167mP 3
  • EC 4.2.1.1 4
  • CAIII 3
  • Car3 3

External Ids for CA3 Gene

Previous GeneCards Identifiers for CA3 Gene

  • GC08P085174
  • GC08P086090
  • GC08P086425
  • GC08P086537
  • GC08P081845
  • GC08P086285

Summaries for CA3 Gene

Entrez Gene Summary for CA3 Gene

  • Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008]

GeneCards Summary for CA3 Gene

CA3 (Carbonic Anhydrase 3) is a Protein Coding gene. Diseases associated with CA3 include Laryngeal Disease and Acute Myocardial Infarction. Among its related pathways are Metabolism and Nitrogen metabolism. Gene Ontology (GO) annotations related to this gene include carbonate dehydratase activity and nickel cation binding. An important paralog of this gene is CA13.

UniProtKB/Swiss-Prot for CA3 Gene

  • Reversible hydration of carbon dioxide.

Gene Wiki entry for CA3 Gene

Additional gene information for CA3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CA3 Gene

Genomics for CA3 Gene

GeneHancer (GH) Regulatory Elements for CA3 Gene

Promoters and enhancers for CA3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J085437 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 650.2 +64.7 64699 1.7 JUND REST CA3 CA2 CA3-AS1 CA1 LRRCC1 GC08P085382
GH08J085371 Enhancer 0.5 ENCODE 650.7 -1.8 -1809 0.2 DPF2 RUNX3 RFX5 SPI1 CA3 CA2 CA3-AS1 CA1 GC08P085305
GH08J085372 Enhancer 0.5 ENCODE 650.7 -1.6 -1609 0.2 NR2F1 DPF2 IRF4 RUNX3 RFX5 SPI1 CA3 CA2 CA3-AS1 LRRCC1 CA1 GC08P085305
GH08J085459 Enhancer 0.7 FANTOM5 Ensembl ENCODE 4.8 +86.2 86158 0.9 CA13 CA3 CA2 CA3-AS1 GC08P085382
GH08J085378 Promoter 1.1 EPDnew 0.7 +4.7 4697 0.1 TAF9B RB1 ARNT CHAMP1 NCOA2 TCF12 ZNF766 GATA2 E2F8 CREM CA1 CA3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CA3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CA3 gene promoter:
  • GR-alpha
  • GR
  • Hand1
  • E47
  • GATA-2
  • Evi-1
  • CHOP-10
  • C/EBPalpha
  • ZIC2
  • HNF-1A

Genomic Locations for CA3 Gene

Genomic Locations for CA3 Gene
chr8:85,373,436-85,449,040
(GRCh38/hg38)
Size:
75,605 bases
Orientation:
Plus strand
chr8:86,285,665-86,361,269
(GRCh37/hg19)
Size:
75,605 bases
Orientation:
Plus strand

Genomic View for CA3 Gene

Genes around CA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CA3 Gene

Proteins for CA3 Gene

  • Protein details for CA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07451-CAH3_HUMAN
    Recommended name:
    Carbonic anhydrase 3
    Protein Accession:
    P07451
    Secondary Accessions:
    • B2R867
    • B3KUC8
    • O60842

    Protein attributes for CA3 Gene

    Size:
    260 amino acids
    Molecular mass:
    29557 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CA3 Gene

neXtProt entry for CA3 Gene

Post-translational modifications for CA3 Gene

  • S-glutathionylated in hepatocytes under oxidative stress.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CA3 Gene

Domains & Families for CA3 Gene

Gene Families for CA3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P07451

UniProtKB/Swiss-Prot:

CAH3_HUMAN :
  • Belongs to the alpha-carbonic anhydrase family.
Family:
  • Belongs to the alpha-carbonic anhydrase family.
genes like me logo Genes that share domains with CA3: view

Function for CA3 Gene

Molecular function for CA3 Gene

UniProtKB/Swiss-Prot Function:
Reversible hydration of carbon dioxide.
UniProtKB/Swiss-Prot CatalyticActivity:
H(2)CO(3) = CO(2) + H(2)O.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by proton donors such as imidazole and the dipeptide histidylhistidine. Inhibited by coumarins and sulfonamide derivatives such as acetazolamide.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=52.0 mM for CO(2) {ECO:0000269 PubMed:18618712};
GENATLAS Biochemistry:
carbonic anhydrase III,cytosolic,expressed in skeletal muscle and notochord,involved in cellular ion transport and PH homeostasis

Enzyme Numbers (IUBMB) for CA3 Gene

Phenotypes From GWAS Catalog for CA3 Gene

Gene Ontology (GO) - Molecular Function for CA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004089 carbonate dehydratase activity TAS --
GO:0008270 zinc ion binding IEA --
GO:0016151 nickel cation binding IEA --
GO:0016791 phosphatase activity IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with CA3: view
genes like me logo Genes that share phenotypes with CA3: view

Animal Models for CA3 Gene

MGI Knock Outs for CA3:
  • Car3 Car3<tm1Gkim>

Animal Model Products

CRISPR Products

miRNA for CA3 Gene

miRTarBase miRNAs that target CA3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CA3 Gene

Localization for CA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CA3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CA3 gene
Compartment Confidence
cytosol 5
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,TAS --
genes like me logo Genes that share ontologies with CA3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CA3 Gene

Pathways & Interactions for CA3 Gene

genes like me logo Genes that share pathways with CA3: view

Pathways by source for CA3 Gene

2 Reactome pathways for CA3 Gene
1 KEGG pathway for CA3 Gene

Gene Ontology (GO) - Biological Process for CA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IEA --
GO:0006979 response to oxidative stress IEA --
GO:0015701 bicarbonate transport TAS --
GO:0016311 dephosphorylation IEA --
GO:0045471 response to ethanol IEA --
genes like me logo Genes that share ontologies with CA3: view

No data available for SIGNOR curated interactions for CA3 Gene

Drugs & Compounds for CA3 Gene

(26) Drugs for CA3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetazolamide Approved, Vet_approved Pharma Target, inhibitor 86
Zonisamide Approved, Investigational Pharma Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 69
Dichlorphenamide Approved, Investigational Pharma Target, inhibitor 2
Zinc Approved, Investigational Pharma 2430
Brinzolamide Approved Pharma Target, inhibitor CA II inhibitor 63

(8) Additional Compounds for CA3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
463-79-6
genes like me logo Genes that share compounds with CA3: view

Transcripts for CA3 Gene

mRNA/cDNA for CA3 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(234) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CA3 Gene

Carbonic anhydrase III, muscle specific:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA3

Alternative Splicing Database (ASD) splice patterns (SP) for CA3 Gene

No ASD Table

Relevant External Links for CA3 Gene

GeneLoc Exon Structure for
CA3
ECgene alternative splicing isoforms for
CA3

Expression for CA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CA3 Gene

This gene is overexpressed in Muscle - Skeletal (x49.4).

Protein differential expression in normal tissues from HIPED for CA3 Gene

This gene is overexpressed in Tonsil (18.8), Oral epithelium (14.1), Cerebral cortex (7.8), and Prostate (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CA3 Gene



Protein tissue co-expression partners for CA3 Gene

NURSA nuclear receptor signaling pathways regulating expression of CA3 Gene:

CA3

SOURCE GeneReport for Unigene cluster for CA3 Gene:

Hs.82129

mRNA Expression by UniProt/SwissProt for CA3 Gene:

P07451-CAH3_HUMAN
Tissue specificity: Muscle specific.

Evidence on tissue expression from TISSUES for CA3 Gene

  • Muscle(5)
  • Liver(4.5)
  • Heart(4.3)
  • Nervous system(2.4)
  • Kidney(2)
genes like me logo Genes that share expression patterns with CA3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CA3 Gene

Orthologs for CA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CA3 34 33
  • 99.74 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CA3 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CA3 34 33
  • 89.74 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Car3 33
  • 87.56 (n)
mouse
(Mus musculus)
Mammalia Car3 16 34 33
  • 87.05 (n)
cow
(Bos Taurus)
Mammalia CA3 34 33
  • 84.87 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CA3 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves CA3 34 33
  • 69.27 (n)
OneToMany
-- 34
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia CA3 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ca3 33
  • 64.58 (n)
zebrafish
(Danio rerio)
Actinopterygii cahz 34
  • 56 (a)
ManyToMany
ca2 34
  • 53 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CAH1 34 35
  • 39 (a)
OneToMany
CG6906 35
  • 31 (a)
CG6074 35
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea cah-3 35
  • 32 (a)
Species where no ortholog for CA3 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)
  • 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 CA3 Gene

ENSEMBL:
Gene Tree for CA3 (if available)
TreeFam:
Gene Tree for CA3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CA3: view image

Paralogs for CA3 Gene

Paralogs for CA3 Gene

(16) SIMAP similar genes for CA3 Gene using alignment to 2 proteins:

  • CAH3_HUMAN
  • E5RHI4_HUMAN
genes like me logo Genes that share paralogs with CA3: view

Variants for CA3 Gene

Sequence variations from dbSNP and Humsavar for CA3 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000139317 -- 85,448,617(+) C/A 3_prime_UTR_variant
rs1000184320 -- 85,440,520(+) C/T intron_variant
rs1000346313 -- 85,441,299(+) A/G intron_variant
rs1000411101 -- 85,448,048(+) G/A coding_sequence_variant, synonymous_variant
rs1000590530 -- 85,439,200(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CA3 Gene

Variant ID Type Subtype PubMed ID
esv2761206 CNV gain 21179565
nsv1028148 CNV gain 25217958
nsv483126 CNV gain+loss 15286789
nsv831377 CNV gain 17160897

Variation tolerance for CA3 Gene

Residual Variation Intolerance Score: 40.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.10; 93.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CA3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CA3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CA3 Gene

Disorders for CA3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CA3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
laryngeal disease
  • laryngeal diseases
acute myocardial infarction
hordeolum
  • hordeolum externum
hypotrichosis 7
  • hypt7
myocardial infarction
  • myocardial infarction, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search CA3 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CA3 Gene

Publications for CA3 Gene

  1. Sequence comparisons and functional studies of the proximal promoter of the carbonic anhydrase 3 (CA3) gene. (PMID: 9651514) Sowden J … Edwards Y (Gene 1998) 3 4 22 58
  2. Carbonic anhydrase III is insufficient in muscles of myasthenia gravis patients. (PMID: 19301202) Du AL … Sun YA (Autoimmunity 2009) 3 22 58
  3. A novel renal carbonic anhydrase type III plays a role in proximal tubule dysfunction. (PMID: 18322545) Gailly P … Devuyst O (Kidney international 2008) 3 22 58
  4. Carbonic anhydrase III promotes transformation and invasion capability in hepatoma cells through FAK signaling pathway. (PMID: 18444244) Dai HY … Chuang SE (Molecular carcinogenesis 2008) 3 22 58
  5. Structural and kinetic analysis of proton shuttle residues in the active site of human carbonic anhydrase III. (PMID: 17427958) Elder I … Silverman DN (Proteins 2007) 4 22 58

Products for CA3 Gene

Sources for CA3 Gene

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