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Aliases for CA12 Gene

Aliases for CA12 Gene

  • Carbonic Anhydrase XII 2 3 4
  • Tumor Antigen HOM-RCC-3.1.3 3 4
  • Carbonate Dehydratase XII 3 4
  • CA-XII 3 4
  • Carbonic Anhydrase 12 3
  • Carbonic Dehydratase 3
  • EC 4.2.1.1 4
  • HsT18816 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 XII) is a Protein Coding gene. Diseases associated with CA12 include hyperchlorhidrosis, isolated and hypoxia. Among its related pathways are 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 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 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

Genomic Location for CA12 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Asn28, Asn80, and Asn162
  • Modification sites at PhosphoSitePlus

Other Protein References for CA12 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CA12 Gene

Domains for CA12 Gene

Gene Families for CA12 Gene

HGNC:
  • CA :Carbonic anhydrases

Graphical View of Domain Structure for InterPro Entry

O43570

UniProtKB/Swiss-Prot:

CAH12_HUMAN :
  • O43570
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

Gene Ontology (GO) - Molecular Function for CA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004089 carbonate dehydratase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with CA12: view

Phenotypes for CA12 Gene

MGI mutant phenotypes for CA12:
inferred from 1 alleles
GenomeRNAi human phenotypes for CA12:
genes like me logo Genes that share phenotypes with CA12: view

No data available for Animal Models , Transcription Factor Targeting 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 4
chloroplast 2
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CA12: view

Pathways 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:0015701 bicarbonate transport TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0055064 chloride ion homeostasis IMP 21035102
genes like me logo Genes that share ontologies with CA12: view

Compounds for CA12 Gene

(1) Tocris Compounds for CA12 Gene

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

(4) HMDB Compounds for CA12 Gene

Compound Synonyms Cas Number PubMed IDs
Carbon dioxide
  • Carbon oxide
124-38-9
Carbonic acid
  • acid of air
463-79-6
Water
  • Dihydrogen oxide
7732-18-5
Zinc
  • Zinc
7440-66-6

(5) Drugbank Compounds for CA12 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Benzthiazide
91-33-8 target inhibitor
Ellagic Acid
476-66-4 target inhibitor
Hydrochlorothiazide
  • Dihydrochlorothiazid
58-93-5 target inhibitor
Hydroflumethiazide
  • Dihydroflumethazide
135-09-1 target inhibitor
Zonisamide
  • Zonisamida [Spanish]
68291-97-4 target inhibitor

(3) Novoseek inferred chemical compound relationships for CA12 Gene

Compound -log(P) Hits PubMed IDs
bicarbonate 44.5 1
zinc 30.8 1
estrogen 9.31 4
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Kidney - Cortex (8.4), Skin - Not Sun Exposed (Suprapubic) (5.1), Colon - Transverse (4.4), and Skin - Sun Exposed (Lower leg) (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with CA12: view

Orthologs for CA12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CA12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CA12 35
  • 99.44 (n)
  • 99.72 (a)
CA12 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CA12 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CA12 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Car12 35
  • 82.15 (n)
  • 81.3 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.10362 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ca12 35
  • 57.64 (n)
  • 52.92 (a)
Str.15012 35
zebrafish
(Danio rerio)
Actinopterygii CA12 36
  • 48 (a)
OneToOne
LOC100537787 35
  • 56.43 (n)
  • 50.16 (a)
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

Selected 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 MAF
rs495202 -- 63,361,480(-) agatg(A/C)tagta intron-variant
rs496366 -- 63,342,755(-) aaatt(A/C)taagc intron-variant
rs499963 -- 63,340,449(-) TCTCT(A/C)TAGGC intron-variant
rs544685 -- 63,371,991(-) ACACT(C/T)TTCGG intron-variant
rs544922 -- 63,361,531(+) gtgca(C/G)gacag 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

Relevant External Links for CA12 Gene

HapMap Linkage Disequilibrium report
CA12
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

MalaCards: The human disease database. (3) Diseases for CA12 Gene including...

Search for CA12 Gene in MalaCards »

(1) OMIM Diseases for CA12 Gene (603263)

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.

(1) University of Copenhagen DISEASES for CA12 Gene

(8) Novoseek inferred disease relationships for CA12 Gene

Disease -log(P) Hits PubMed IDs
carcinoma renal cell 51.6 3
colorectal tumors 43.7 2
tumors 33.6 25
breast cancer 25 4
cancer 24.8 14

Relevant External Links for CA12

Genetic Association Database (GAD)
CA12
genes like me logo Genes that share disorders with CA12: view

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
  2. Down-regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild-type von Hippel-Lindau transgenes. (PMID: 9770531) Ivanov S.V. … Lerman M.I. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 23
  3. Crystal structure of the dimeric extracellular domain of human carbonic anhydrase XII, a bitopic membrane protein overexpressed in certain cancer tumor cells. (PMID: 11493685) Whittington D.A. … Christianson D.W. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 4 23
  4. Expression of cell surface transmembrane carbonic anhydrase genes CA9 and CA12 in the human eye: overexpression of CA12 (CAXII) in glaucoma. (PMID: 12676895) Liao S.Y. … Lerman M.I. (J. Med. Genet. 2003) 3 23
  5. Localization of carbonic anhydrase XII to the basolateral membrane of H+-secreting cells of mouse and rat kidney. (PMID: 12923247) KyllAPnen M.S. … Kaunisto K. (J. Histochem. Cytochem. 2003) 3 23

Products for CA12 Gene

Sources for CA12 Gene

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