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 pro... See more...

Aliases for CA12 Gene

Aliases for CA12 Gene

  • Carbonic Anhydrase 12 2 3 4 5
  • Carbonic Anhydrase XII 2 3 4
  • Tumor Antigen HOM-RCC-3.1.3 3 4
  • Carbonate Dehydratase XII 3 4
  • HsT18816 2 3
  • CA-XII 3 4
  • Carbonic Dehydratase 3
  • EC 4.2.1.1 4
  • T18816 3
  • CAXII 3
  • CA12 5

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 Degenerative Disc Disease. Among its related pathways are Metabolism and Celecoxib Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA14.

UniProtKB/Swiss-Prot Summary for CA12 Gene

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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CA12 Gene

Genomics for CA12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CA12 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
GH15J063379 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 285.6 +1.1 1139 3.4 IKZF1 ATF2 JUND ZIC2 CEBPB ZNF341 ZBTB7B ZNF217 MBD2 CTBP1 CA12 LINC02568 lnc-RPS27L-7 USP3-AS1 APH1B
GH15J063366 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 33.5 +9.7 9699 10.5 JUND ZNF592 NFIC ZIC2 CEBPB BHLHE40 MAX EP300 STAT3 ZNF316 CA12 LACTB RAB8B lnc-RPS27L-7 HSALNG0106485 APH1B
GH15J063395 Enhancer 1.3 Ensembl ENCODE dbSUPER 31.4 -14.4 -14427 1.5 NCOR1 IKZF1 ZNF592 CEBPA REST CEBPB HES1 BHLHE40 MBD2 MNT CA12 APH1B FBXL22 RAB8B lnc-APH1B-2 piR-61945-159 LINC02568 USP3
GH15J063361 Enhancer 1.1 Ensembl ENCODE dbSUPER 29.9 +18.0 18045 4.8 NCOR1 IKZF1 ZNF592 NFIC BHLHE40 FEZF1 ARNT NBN TAL1 MYNN CA12 lnc-RPS27L-7 HSALNG0106485 APH1B
GH15J063407 Enhancer 1 Ensembl ENCODE 31.2 -26.5 -26455 1.8 ZNF580 ATF2 ZNF10 ZSCAN16 CEBPB FEZF1 ZNF639 ZNF513 ZNF610 ZNF623 CA12 USP3 APH1B FBXL22 RF00017-1621 HSALNG0106487-002 LINC02568
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CA12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CA12

Top Transcription factor binding sites by QIAGEN in the CA12 gene promoter:
  • AML1a
  • AREB6
  • COUP
  • COUP-TF
  • COUP-TF1
  • E47
  • Hand1
  • HNF-4alpha1
  • HNF-4alpha2
  • MyoD

Genomic Locations for CA12 Gene

Latest Assembly
chr15:63,321,378-63,381,846
(GRCh38/hg38)
Size:
60,469 bases
Orientation:
Minus strand

Previous Assembly
chr15:63,613,577-63,674,045
(GRCh37/hg19 by Entrez Gene)
Size:
60,469 bases
Orientation:
Minus strand

chr15:63,613,577-63,674,360
(GRCh37/hg19 by Ensembl)
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

Post-translational modifications for CA12 Gene

  • Glycosylation at Asn28, Asn80, and Asn162
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CAH12_HUMAN (1064)

Other Protein References for CA12 Gene

Assay products for research

No data available for DME Specific Peptides for CA12 Gene

Domains & Families for CA12 Gene

Gene Families for CA12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted membrane proteins

Protein Domains for CA12 Gene

Suggested Antigen Peptide Sequences for CA12 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ39526 fis, clone PUAEN2003018, highly similar to CARBONIC ANHYDRASE XII (EC 4.2.1.1) (B3KUB4_HUMAN)
  • Tumor antigen HOM-RCC-3.1.3 (CAH12_HUMAN)
  • CDNA FLJ20151 fis, clone COL08412 (Q9NXM9_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Reversible hydration of carbon dioxide.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hydrogencarbonate = CO2 + H2O; Xref=Rhea:RHEA:10748, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:17544; EC=4.2.1.1;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=12.0 mM for CO(2) {ECO:0000269|PubMed:18618712};
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).
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

Enzyme Numbers (IUBMB) for CA12 Gene

Phenotypes From GWAS Catalog 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,IBA 21873635
GO:0008270 zinc ion binding IEA --
GO:0016829 lyase activity IEA --
GO:0016836 hydro-lyase activity IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CA12: view
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA12

No data available for 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. Cell membrane.

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 CA12 gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CA12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CA12 Gene

Pathways & Interactions for CA12 Gene

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

Pathways by source for CA12 Gene

2 Reactome pathways for CA12 Gene
1 PharmGKB pathway for CA12 Gene
2 KEGG pathways for CA12 Gene
2 Cell Signaling Technology pathways 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 IBA 21873635
GO:0015701 bicarbonate transport TAS --
GO:0055064 chloride ion homeostasis IMP 21035102
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zonisamide Approved, Investigational Pharma Target, inhibitor, blocker Antiepileptic with anticonvulsant and mechanistic effect 78
Topiramate Approved Pharma antagonist GluR5 receptor antagonist,anticonvulsant, GluR5 antagonist; inhibits carbonic anhydrase (CA) II and IV 289
Acetazolamide Approved, Vet_approved Pharma Target, inhibitor 120
Benzthiazide Approved Pharma Target, inhibitor 0
Hydroflumethiazide Approved, Investigational, Withdrawn Pharma Target, inhibitor 1

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen carbonate
  • [CO(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Dihydrogen carbonic acid
71-52-3
S4
1330061-67-0

(2) Tocris Compounds for CA12 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

(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

Drug products for research

Transcripts for CA12 Gene

mRNA/cDNA for CA12 Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CA12

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

Expression for CA12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CA12 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CA12

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. Expressed in sweat glands and bronchiolar epithelium (PubMed:26911677).

Evidence on tissue expression from TISSUES for CA12 Gene

  • Kidney(4.9)
  • Eye(4.8)
  • Lung(4.4)
  • Nervous system(4.3)
  • Intestine(3.8)
  • Skin(2.9)
  • Pancreas(2.2)
  • Bone(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CA12 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
genes like me logo Genes that share expression patterns with CA12: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia CA12 29 30
  • 99.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CA12 29 30
  • 85.63 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Car12 29 16 30
  • 83.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CA12 29 30
  • 82.58 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Car12 29
  • 82.15 (n)
Oppossum
(Monodelphis domestica)
Mammalia CA12 30
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CA12 30
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CA12 29 30
  • 66.57 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CA12 30
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ca12 29
  • 57.64 (n)
Str.15012 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.10362 29
Zebrafish
(Danio rerio)
Actinopterygii LOC100537787 29
  • 56.43 (n)
CA12 30
  • 48 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8628 30
  • 17 (a)
OneToMany
Species where no ortholog for CA12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CA12: view image
Alliance of Genome Resources:
Additional Orthologs for CA12

Paralogs for CA12 Gene

Paralogs for CA12 Gene

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

  • CAH12_HUMAN
  • B3KUB4_HUMAN
  • Q9NXM9_HUMAN
genes like me logo Genes that share paralogs with CA12: view

Variants for CA12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CA12 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
1030305 Uncertain Significance: Hyperchlorhidrosis, isolated 63,345,551(-) G/A
NM_001218.5(CA12):c.355C>T (p.His119Tyr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
973947 Uncertain Significance: Hyperchlorhidrosis, isolated 63,338,829(-) G/GAGGT
NM_001218.5(CA12):c.863_864insACCT (p.Phe289fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
rs114236166 Benign: not provided 63,346,612(-) G/A
NM_001218.5(CA12):c.204C>T (p.Asp68=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON
rs115949378 Benign: not provided 63,346,567(-) G/C
NM_001218.5(CA12):c.249C>G (p.Ala83=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON
rs1310072678 Likely Benign: not provided 63,338,928(-) T/C
NM_001218.5(CA12):c.765A>G (p.Thr255=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CA12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv1035441 CNV gain 25217958
nsv1563 CNV insertion 18451855
nsv1564 CNV deletion 18451855
nsv457181 CNV loss 19166990
nsv569700 CNV loss 21841781

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)

Additional Variant Information for CA12 Gene

Human Gene Mutation Database (HGMD)
CA12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CA12
Leiden Open Variation Database (LOVD)
CA12

SNP Genotyping and Copy Number Assays for research

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

Disorders for CA12 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CA12 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 (HYCHL) [MIM:143860]: An autosomal recessive 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, ECO:0000269 PubMed:21184099, ECO:0000269 PubMed:26911677}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for 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) Türeci O … Sly WS (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 22
  2. Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12. (PMID: 21184099) Muhammad E … Parvari R (Human genetics 2011) 3 4 72
  3. Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. (PMID: 21035102) Feldshtein M … Birk OS (American journal of human genetics 2010) 3 4 72
  4. 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 DA … Christianson DW (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 22
  5. Down-regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild-type von Hippel-Lindau transgenes. (PMID: 9770531) Ivanov SV … Lerman MI (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 22

Products for CA12 Gene

Sources for CA12 Gene