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Aliases for CA12 Gene

Aliases for CA12 Gene

  • Carbonic Anhydrase 12 2 3
  • Carbonic Anhydrase XII 2 3 4 5
  • Tumor Antigen HOM-RCC-3.1.3 3 4
  • Carbonate Dehydratase XII 3 4
  • CA-XII 3 4
  • Carbonic Dehydratase 3
  • EC 4.2.1.1 4
  • HsT18816 3
  • T18816 3
  • CAXII 3

External Ids for CA12 Gene

Previous GeneCards Identifiers for CA12 Gene

  • GC15M059403
  • GC15M056707
  • GC15M061195
  • GC15M061332
  • GC15M061402
  • GC15M063613
  • GC15M040438

Summaries for CA12 Gene

Entrez Gene Summary for CA12 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. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]

GeneCards Summary for CA12 Gene

CA12 (Carbonic Anhydrase 12) is a Protein Coding gene. Diseases associated with CA12 include Hyperchlorhidrosis, Isolated and Renal Cell Carcinoma. Among its related pathways are Nitrogen metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA14.

UniProtKB/Swiss-Prot for CA12 Gene

  • Reversible hydration of carbon dioxide.

Tocris Summary for CA12 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 CA12 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CA12 Gene

Genomics for CA12 Gene

Regulatory Elements for CA12 Gene

Enhancers for CA12 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CA12 on UCSC Golden Path with GeneCards custom track

Promoters for CA12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CA12 on UCSC Golden Path with GeneCards custom track

Genomic Location for CA12 Gene

Chromosome:
15
Start:
63,321,378 bp from pter
End:
63,382,161 bp from pter
Size:
60,784 bases
Orientation:
Minus strand

Genomic View for CA12 Gene

Genes around CA12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CA12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CA12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CA12 Gene

Proteins for CA12 Gene

  • Protein details for CA12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43570-CAH12_HUMAN
    Recommended name:
    Carbonic anhydrase 12
    Protein Accession:
    O43570
    Secondary Accessions:
    • B2RE24
    • Q53YE5
    • Q9BWG2

    Protein attributes for CA12 Gene

    Size:
    354 amino acids
    Molecular mass:
    39451 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for CA12 Gene

    Alternative splice isoforms for CA12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CA12 Gene

Proteomics data for CA12 Gene at MOPED

Post-translational modifications for CA12 Gene

  • Glycosylation at Asn 28, Asn 80, and Asn 162
  • Modification sites at PhosphoSitePlus

Other Protein References for CA12 Gene

Antibody Products

  • R&D Systems Antibodies for CA12 (Carbonic Anhydrase XII/CA12)
  • Cell Signaling Technology (CST) Antibodies for CA12 (CA12)
  • Abcam antibodies for CA12

No data available for DME Specific Peptides for CA12 Gene

Domains & Families for CA12 Gene

Gene Families for CA12 Gene

Graphical View of Domain Structure for InterPro Entry

O43570

UniProtKB/Swiss-Prot:

CAH12_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 CA12: view

Function for CA12 Gene

Molecular function for CA12 Gene

GENATLAS Biochemistry:
carbonic anhydrase XII,39.5kDa,expressed in pancreas,kidney and salivary gland,with a truncated form (tumor associated) overexpressed in renal cell carcinomas but not mutated
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=12.0 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:
Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide (AZA), benzenesulfonamide and derivatives (4-carboxyethylbenzene-sulfonamide, 4-carboxyethylbenzene-sulfonamide ethyl ester, 4-(acetyl-2-aminoethyl)benzene-sulfonamide, 4-aminoethylbenzene-sulfonamide) and Foscarnet (phosphonoformate trisodium salt).
UniProtKB/Swiss-Prot Function:
Reversible hydration of carbon dioxide.

Enzyme Numbers (IUBMB) for CA12 Gene

genes like me logo Genes that share phenotypes with CA12: view

Human Phenotype Ontology for CA12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CA12 Gene

Localization for CA12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CA12 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CA12 Gene COMPARTMENTS Subcellular localization image for CA12 gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 2
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CA12: view

Pathways & Interactions for CA12 Gene

genes like me logo Genes that share pathways with CA12: view

Pathways by source for CA12 Gene

2 Cell Signaling Technology pathways for CA12 Gene
2 Reactome pathways for CA12 Gene
1 PharmGKB pathway for CA12 Gene
1 KEGG pathway for CA12 Gene

Interacting Proteins for CA12 Gene

Gene Ontology (GO) - Biological Process for CA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006730 one-carbon metabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with CA12: view

No data available for SIGNOR curated interactions for CA12 Gene

Drugs & Compounds for CA12 Gene

(22) Drugs for CA12 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Topiramate Approved Pharma antagonist GluR5 receptor antagonist,anticonvulsant, GluR5 antagonist; inhibits carbonic anhydrase (CA) II and IV 242
Zonisamide Approved, Investigational Pharma blocker, Target, inhibitor Antiepileptic with anticonvulsant and mechanistic effect 65
Benzthiazide Approved Pharma Target, inhibitor 0
Hydroflumethiazide Approved Pharma Target, inhibitor 1
Brinzolamide Approved Pharma inhibitor CA II inhibitor 60

(5) Additional Compounds for CA12 Gene - From: HMDB, Tocris, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
S4
1330061-67-0

(3) Tocris Compounds for CA12 Gene

Compound Action Cas Number
S4 High affinity and selective CA IX and CA XII inhibitor 1330061-67-0
Topiramate GluR5 antagonist; inhibits carbonic anhydrase (CA) II and IV 97240-79-4
U 104 Potent carbonic anhydrase (CA) IX and XII inhibitor 178606-66-1

(5) ApexBio Compounds for CA12 Gene

Compound Action Cas Number
Brinzolamide CA II inhibitor 138890-62-7
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 CA12: view

Transcripts for CA12 Gene

Unigene Clusters for CA12 Gene

Carbonic anhydrase XII:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CA12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c
SP1: - -
SP2: - - -
SP3: - -
SP4:
SP5: -
SP6:

Relevant External Links for CA12 Gene

GeneLoc Exon Structure for
CA12
ECgene alternative splicing isoforms for
CA12

Expression for CA12 Gene

mRNA expression in normal human tissues for CA12 Gene

mRNA differential expression in normal tissues according to GTEx for CA12 Gene

This gene is overexpressed in Kidney - Cortex (x8.4), Skin - Not Sun Exposed (Suprapubic) (x5.1), Colon - Transverse (x4.4), and Skin - Sun Exposed (Lower leg) (x4.1).

Protein differential expression in normal tissues from HIPED for CA12 Gene

This gene is overexpressed in Nasal epithelium (45.1) and Oral epithelium (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CA12 Gene



SOURCE GeneReport for Unigene cluster for CA12 Gene Hs.210995

mRNA Expression by UniProt/SwissProt for CA12 Gene

O43570-CAH12_HUMAN
Tissue specificity: Highly expressed in colon, kidney, prostate, intestine and activated lymphocytes. Expressed at much higher levels in the renal cell cancers than in surrounding normal kidney tissue. Moderately expressed in pancreas, ovary and testis.
genes like me logo Genes that share expression patterns with CA12: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for CA12 Gene

Orthologs for CA12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CA12 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CA12 35
  • 82.58 (n)
  • 78.81 (a)
CA12 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CA12 35
  • 85.63 (n)
  • 83.79 (a)
CA12 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Car12 35
  • 83.76 (n)
  • 82.15 (a)
Car12 16
Car12 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CA12 35
  • 99.44 (n)
  • 99.72 (a)
CA12 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Car12 35
  • 82.15 (n)
  • 81.3 (a)
oppossum
(Monodelphis domestica)
Mammalia CA12 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CA12 36
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves CA12 35
  • 66.57 (n)
  • 62.46 (a)
CA12 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CA12 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ca12 35
  • 57.64 (n)
  • 52.92 (a)
Str.15012 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.10362 35
zebrafish
(Danio rerio)
Actinopterygii LOC100537787 35
  • 56.43 (n)
  • 50.16 (a)
CA12 36
  • 48 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8628 36
  • 17 (a)
OneToMany
Species with no ortholog for CA12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for CA12 Gene

ENSEMBL:
Gene Tree for CA12 (if available)
TreeFam:
Gene Tree for CA12 (if available)

Paralogs for CA12 Gene

Paralogs for CA12 Gene

(13) SIMAP similar genes for CA12 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CA12: view

Variants for CA12 Gene

Sequence variations from dbSNP and Humsavar for CA12 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_065292 Hyperchlorhidrosis, isolated (HCHLH)
rs4984242 -- 63,377,487(+) TTTTT(A/T)AAAAA intron-variant
rs4984266 -- 63,348,593(+) GCCAG(C/G)CAGGC intron-variant
rs4984267 -- 63,354,483(+) TCTCC(C/T)CTTGG intron-variant
rs4984268 -- 63,371,380(+) CTCAC(A/G)CCGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CA12 Gene

Variant ID Type Subtype PubMed ID
nsv1563 CNV Insertion 18451855
nsv1564 CNV Loss 18451855
nsv457181 CNV Loss 19166990

Variation tolerance for CA12 Gene

Residual Variation Intolerance Score: 60.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CA12 Gene

Human Gene Mutation Database (HGMD)
CA12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CA12 Gene

Disorders for CA12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CA12 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyperchlorhidrosis, isolated
  • isolated hyperchlorhidrosis
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
- elite association - COSMIC cancer census association via MalaCards
Search CA12 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAH12_HUMAN
  • Hyperchlorhidrosis, isolated (HCHLH) [MIM:143860]: A disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat. {ECO:0000269 PubMed:21035102}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CA12

Genetic Association Database (GAD)
CA12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CA12
genes like me logo Genes that share disorders with CA12: view

No data available for Genatlas for CA12 Gene

Publications for CA12 Gene

  1. Human carbonic anhydrase XII: cDNA cloning, expression, and chromosomal localization of a carbonic anhydrase gene that is overexpressed in some renal cell cancers. (PMID: 9636197) Tuereci O. … Sly W.S. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23 67
  2. Differential modulation of the active site environment of human carbonic anhydrase XII by cationic quantum dots and polylysine. (PMID: 20215053) Manokaran S. … Srivastava D.K. (Biochim. Biophys. Acta 2010) 3 23
  3. Carbonic anhydrase XII promotes invasion and migration ability of MDA-MB-231 breast cancer cells through the p38 MAPK signaling pathway. (PMID: 20434230) Hsieh M.J. … Hsieh Y.S. (Eur. J. Cell Biol. 2010) 3 23
  4. Expression of transmembrane carbonic anhydrases, CAIX and CAXII, in human development. (PMID: 19291313) Liao S.Y. … Stanbridge E.J. (BMC Dev. Biol. 2009) 3 23
  5. Carbonic anhydrase inhibitors. Comparison of chlorthalidone, indapamide, trichloromethiazide, and furosemide X-ray crystal structures in adducts with isozyme II, when several water molecules make the difference. (PMID: 19119014) Temperini C. … Supuran C.T. (Bioorg. Med. Chem. 2009) 25 26

Products for CA12 Gene

Sources for CA12 Gene

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