Details for: CA12

Gene ID: 771

Symbol: CA12

Ensembl ID: ENSG00000074410

Description: carbonic anhydrase 12

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 25.1900
    Cell Significance Index: -24.0500
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 18.2372
    Cell Significance Index: 69.8300
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: 13.8247
    Cell Significance Index: 9.8800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.4182
    Cell Significance Index: -25.2300
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 8.2946
    Cell Significance Index: 18.7000
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 7.5964
    Cell Significance Index: 46.7500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 6.9365
    Cell Significance Index: 94.6400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 6.4004
    Cell Significance Index: 178.8700
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 6.3358
    Cell Significance Index: 21.7600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.0620
    Cell Significance Index: -8.8900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 3.8603
    Cell Significance Index: 200.5300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 3.3848
    Cell Significance Index: 153.4200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 3.1133
    Cell Significance Index: 137.7100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 3.0966
    Cell Significance Index: 46.4000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.8653
    Cell Significance Index: 108.5000
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 1.4290
    Cell Significance Index: 4.2500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.3781
    Cell Significance Index: 102.7100
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.3620
    Cell Significance Index: 20.7200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.3203
    Cell Significance Index: 238.0000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.3037
    Cell Significance Index: 248.1000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.2091
    Cell Significance Index: 119.6100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9444
    Cell Significance Index: 116.1200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8985
    Cell Significance Index: 146.1400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.8940
    Cell Significance Index: 63.2300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.7082
    Cell Significance Index: 519.2600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6615
    Cell Significance Index: 361.2600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.5500
    Cell Significance Index: 25.6500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.5459
    Cell Significance Index: 93.2100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5284
    Cell Significance Index: 36.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.5214
    Cell Significance Index: 16.7000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4754
    Cell Significance Index: 55.4000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4683
    Cell Significance Index: 207.0300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4513
    Cell Significance Index: 407.4500
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.4355
    Cell Significance Index: 4.7200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4135
    Cell Significance Index: 82.0700
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.3470
    Cell Significance Index: 3.3100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1983
    Cell Significance Index: 6.8900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1718
    Cell Significance Index: 8.0800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1437
    Cell Significance Index: 5.0500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.1389
    Cell Significance Index: 3.3700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1267
    Cell Significance Index: 3.6500
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.1183
    Cell Significance Index: 1.8300
  • Cell Name: glioblast (CL0000030)
    Fold Change: 0.0748
    Cell Significance Index: 0.4700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0694
    Cell Significance Index: 8.9700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0674
    Cell Significance Index: 1.4600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0579
    Cell Significance Index: 36.1800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0530
    Cell Significance Index: 2.6800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0515
    Cell Significance Index: 23.3800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0449
    Cell Significance Index: 16.1100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0334
    Cell Significance Index: 23.1200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0220
    Cell Significance Index: 0.5500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0064
    Cell Significance Index: -11.9700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0112
    Cell Significance Index: -8.2600
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0118
    Cell Significance Index: -0.0900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0125
    Cell Significance Index: -1.2800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0137
    Cell Significance Index: -25.2200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0147
    Cell Significance Index: -22.6300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0163
    Cell Significance Index: -12.3100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0175
    Cell Significance Index: -9.8600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0198
    Cell Significance Index: -26.8700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0272
    Cell Significance Index: -0.5800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0378
    Cell Significance Index: -7.5900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0380
    Cell Significance Index: -24.1300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0523
    Cell Significance Index: -4.1400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0554
    Cell Significance Index: -11.6600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0600
    Cell Significance Index: -17.2500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0765
    Cell Significance Index: -8.7600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1064
    Cell Significance Index: -14.6100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1177
    Cell Significance Index: -15.0900
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.1265
    Cell Significance Index: -1.1400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1302
    Cell Significance Index: -2.8500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1615
    Cell Significance Index: -23.4700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1777
    Cell Significance Index: -20.2800
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.2050
    Cell Significance Index: -2.6400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2052
    Cell Significance Index: -21.3700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2054
    Cell Significance Index: -5.5900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2096
    Cell Significance Index: -12.8500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2894
    Cell Significance Index: -2.6700
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.3135
    Cell Significance Index: -4.3500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3331
    Cell Significance Index: -25.5600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3398
    Cell Significance Index: -22.8500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3407
    Cell Significance Index: -6.6500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3722
    Cell Significance Index: -23.4600
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.4037
    Cell Significance Index: -2.6800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.4250
    Cell Significance Index: -17.4100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4301
    Cell Significance Index: -22.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4350
    Cell Significance Index: -24.4100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4484
    Cell Significance Index: -27.5600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4602
    Cell Significance Index: -23.9700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.4632
    Cell Significance Index: -11.5700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.4715
    Cell Significance Index: -9.7800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4745
    Cell Significance Index: -17.4200
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: -0.5753
    Cell Significance Index: -5.5400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5789
    Cell Significance Index: -14.8800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5918
    Cell Significance Index: -17.4300
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.6148
    Cell Significance Index: -4.4700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6296
    Cell Significance Index: -22.0600
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: -0.6338
    Cell Significance Index: -6.6600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.6556
    Cell Significance Index: -17.2400
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.6622
    Cell Significance Index: -6.0400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** CA12 is a metalloenzyme that relies on zinc ions as cofactors to facilitate the hydration of carbon dioxide. This reaction is crucial for maintaining acid-base balance and regulating the pH of various bodily fluids. CA12 is distinct from other carbonic anhydrases in its tissue-specific expression pattern and its unique subcellular localization. It is predominantly found at the apical and basolateral plasma membranes of epithelial cells, where it plays a critical role in ion transport and acid-base regulation. **Pathways and Functions:** CA12 is involved in several key pathways, including: 1. **Carbonate dehydratase activity**: CA12 catalyzes the reversible hydration of carbon dioxide, which is essential for maintaining acid-base balance in the body. 2. **Chloride ion homeostasis**: CA12 regulates chloride ion transport across epithelial membranes, influencing fluid and electrolyte balance. 3. **Reversible hydration of carbon dioxide**: CA12 is responsible for the conversion of carbon dioxide to bicarbonate, which is critical for maintaining pH homeostasis in the body. 4. **One-carbon metabolic process**: CA12 is involved in the regulation of one-carbon metabolism, which is essential for various cellular processes, including DNA synthesis and repair. **Clinical Significance:** CA12 has been implicated in several disease states, including: 1. **Kidney disorders**: Altered expression of CA12 has been observed in various kidney diseases, including chronic kidney disease and nephrotic syndrome. 2. **Respiratory diseases**: CA12 has been linked to the pathogenesis of respiratory diseases, such as chronic obstructive pulmonary disease (COPD) and cystic fibrosis. 3. **Ocular diseases**: CA12 has been implicated in the development of ocular diseases, including age-related macular degeneration and glaucoma. In conclusion, CA12 is a multifunctional enzyme that plays a critical role in maintaining acid-base balance, regulating ion transport, and influencing various cellular processes. Further research is needed to fully elucidate the functional significance of CA12 and its role in human physiology and disease.

Genular Protein ID: 4203576834

Symbol: CAH12_HUMAN

Name: Carbonate dehydratase XII

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9636197

Title: Human carbonic anhydrase XII: cDNA cloning, expression, and chromosomal localization of a carbonic anhydrase gene that is overexpressed in some renal cell cancers.

PubMed ID: 9636197

DOI: 10.1073/pnas.95.13.7608

PubMed ID: 9770531

Title: Down-regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild-type von Hippel-Lindau transgenes.

PubMed ID: 9770531

DOI: 10.1073/pnas.95.21.12596

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17705204

Title: Saccharin inhibits carbonic anhydrases: possible explanation for its unpleasant metallic aftertaste.

PubMed ID: 17705204

DOI: 10.1002/anie.200701189

PubMed ID: 17314045

Title: Phosph(on)ate as a zinc-binding group in metalloenzyme inhibitors: X-ray crystal structure of the antiviral drug foscarnet complexed to human carbonic anhydrase I.

PubMed ID: 17314045

DOI: 10.1016/j.bmcl.2007.01.113

PubMed ID: 17407288

Title: Structural analysis of charge discrimination in the binding of inhibitors to human carbonic anhydrases I and II.

PubMed ID: 17407288

DOI: 10.1021/ja068359w

PubMed ID: 19186056

Title: A thiabendazole sulfonamide shows potent inhibitory activity against mammalian and nematode alpha-carbonic anhydrases.

PubMed ID: 19186056

DOI: 10.1016/j.bmcl.2009.01.038

PubMed ID: 19206230

Title: Non-zinc mediated inhibition of carbonic anhydrases: coumarins are a new class of suicide inhibitors.

PubMed ID: 19206230

DOI: 10.1021/ja809683v

PubMed ID: 18618712

Title: Crystal structure of human carbonic anhydrase XIII and its complex with the inhibitor acetazolamide.

PubMed ID: 18618712

DOI: 10.1002/prot.22144

PubMed ID: 26911677

Title: Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

PubMed ID: 26911677

DOI: 10.1093/hmg/ddw065

PubMed ID: 11493685

Title: Crystal structure of the dimeric extracellular domain of human carbonic anhydrase XII, a bitopic membrane protein overexpressed in certain cancer tumor cells.

PubMed ID: 11493685

DOI: 10.1073/pnas.161301298

PubMed ID: 21035102

Title: Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII.

PubMed ID: 21035102

DOI: 10.1016/j.ajhg.2010.10.008

PubMed ID: 21184099

Title: Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of carbonic cnhydrase 12.

PubMed ID: 21184099

DOI: 10.1007/s00439-010-0930-4

Sequence Information:

  • Length: 354
  • Mass: 39451
  • Checksum: 9016216BF2CA6C0C
  • Sequence:
  • MPRRSLHAAA VLLLVILKEQ PSSPAPVNGS KWTYFGPDGE NSWSKKYPSC GGLLQSPIDL 
    HSDILQYDAS LTPLEFQGYN LSANKQFLLT NNGHSVKLNL PSDMHIQGLQ SRYSATQLHL 
    HWGNPNDPHG SEHTVSGQHF AAELHIVHYN SDLYPDASTA SNKSEGLAVL AVLIEMGSFN 
    PSYDKIFSHL QHVKYKGQEA FVPGFNIEEL LPERTAEYYR YRGSLTTPPC NPTVLWTVFR 
    NPVQISQEQL LALETALYCT HMDDPSPREM INNFRQVQKF DERLVYTSFS QVQVCTAAGL 
    SLGIILSLAL AGILGICIVV VVSIWLFRRK SIKKGDNKGV IYKPATKMET EAHA

Genular Protein ID: 499028068

Symbol: B3KUB4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

Sequence Information:

  • Length: 283
  • Mass: 31857
  • Checksum: F0A4459547CCAF8E
  • Sequence:
  • MPRRSLHAAA VLLLVILKEQ PSSPAPVNGS KWTYFVKLNL PSDMHIQGLQ SRYSATQLHL 
    HWGNPNDPHG SEHTVSGQHF AAELHIVHYN SDLYPDASTA SNKSEGLAVL AVLIEMGSFN 
    PSYDKIFSHL QHVKYKGQEA FVPGFNIEEL LPERTAEYYR YRGSLTTPPC NPTVLWTVFR 
    NPVQISQEQL LALETALYCT HMDDPSPREM INNFRQVQKF DERLVYTSFS QGIILSLALA 
    GILGICIVVV VSIWLFRRKS IKKGDNKGVI YKPATKMETE AHA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.